Variant report

Variant	nsv892001
Chromosome Location	chr9:686753-841152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2178)
CpG islands
(count:550)
Chromatin interactive
region (count:65)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:2178 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
11	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
13	ATF2	chr9:840342-840725	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
15	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
17	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
18	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
19	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
20	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:840410-840568	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
23	BHLHE40	chr9:761513-761762	HepG2	liver:	n/a	n/a
24	BHLHE40	chr9:734758-735070	HepG2	liver:	n/a	n/a
25	BHLHE40	chr9:755691-756354	HepG2	liver:	n/a	n/a
26	BHLHE40	chr9:706697-706897	GM12878	blood:	n/a	n/a
27	BHLHE40	chr9:694893-695215	A549	lung:	n/a	n/a
28	BRCA1	chr9:763966-764464	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr9:756272-756352	HepG2	liver:	n/a	n/a
30	CBX3	chr9:763894-764606	HCT-116	colon:	n/a	n/a
31	CEBPB	chr9:737825-737895	K562	blood:	n/a	n/a
32	CEBPB	chr9:761496-761741	IMR90	lung:	n/a	n/a
33	CEBPB	chr9:819807-820076	A549	lung:	n/a	chr9:819810-819821
34	CEBPB	chr9:799183-799446	HepG2	liver:	n/a	chr9:799301-799312
35	CEBPB	chr9:737754-737954	A549	lung:	n/a	n/a
36	CEBPB	chr9:694740-695175	A549	lung:	n/a	n/a
37	CEBPB	chr9:756016-756351	H1-hESC	embryonic stem cell:	n/a	chr9:756184-756197 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195
38	CEBPB	chr9:710023-710247	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:710012-710271	IMR90	lung:	n/a	n/a
40	CEBPB	chr9:702920-703098	HepG2	liver:	n/a	n/a
41	CEBPB	chr9:792618-793073	HepG2	liver:	n/a	chr9:792818-792829 chr9:792819-792830
42	CEBPB	chr9:819922-820082	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr9:755941-756381	HepG2	liver:	n/a	chr9:756184-756197 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195
44	CEBPB	chr9:755785-756371	A549	lung:	n/a	chr9:756184-756197 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195 chr9:756186-756195
45	CEBPB	chr9:792649-793016	IMR90	lung:	n/a	chr9:792818-792829 chr9:792819-792830
46	CEBPB	chr9:812281-812423	HepG2	liver:	n/a	chr9:812339-812350
47	CEBPB	chr9:745733-746086	HepG2	liver:	n/a	chr9:745902-745913
48	CEBPB	chr9:761422-761787	HepG2	liver:	n/a	n/a
49	CEBPB	chr9:752051-752501	IMR90	lung:	n/a	chr9:752259-752270
50	CEBPB	chr9:709989-710223	HepG2	liver:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:707166-707216	PrEC	prostate:	n/a
2	chr9:707166-707216	PrEC	prostate:	n/a
3	chr9:705143-705193	ovcar-3	ovarian:	n/a
4	chr9:839126-839176	BJ	skin:	n/a
5	chr9:707410-707460	AG09319	gingival:	n/a
6	chr9:761482-761532	MCF10A-Er-Src	breast:	n/a
7	chr9:705143-705193	U87	brain:	n/a
8	chr9:707387-707437	HMEC	breast:	n/a
9	chr9:761482-761532	SK-N-SH	brain:	n/a
10	chr9:705143-705193	HAEpiC	amniotic membrane:	n/a
11	chr9:714269-714319	GM12878	blood:	n/a
12	chr9:761482-761532	HIPEpiC	eye:	n/a
13	chr9:707387-707437	T-47D	breast:	n/a
14	chr9:761482-761532	IMR90	lung:	fetal
15	chr9:839126-839176	AoSMC	blood vessel:	n/a
16	chr9:714269-714319	Caco-2	colon:	n/a
17	chr9:707387-707437	NT2-D1	testis:	n/a
18	chr9:707166-707216	BJ	skin:	n/a
19	chr9:707410-707460	PrEC	prostate:	n/a
20	chr9:761482-761532	GM19239	blood:	n/a
21	chr9:826657-826707	BJ	skin:	n/a
22	chr9:714269-714319	RPTEC	kidney:	n/a
23	chr9:714269-714319	HPAEpiC	pulmonary alveolar:	n/a
24	chr9:714269-714319	HRPEpiC	eye:	n/a
25	chr9:839557-839607	A549	lung:	n/a
26	chr9:707166-707216	HRCEpiC	kidney:	n/a
27	chr9:839557-839607	U87	brain:	n/a
28	chr9:707410-707460	ovcar-3	ovarian:	n/a
29	chr9:826657-826707	H1-hESC	embryonic stem cell:	embryo
30	chr9:839557-839607	HCPEpiC	choroid plexus:	n/a
31	chr9:705143-705193	HPAEpiC	pulmonary alveolar:	n/a
32	chr9:826657-826707	GM12878	blood:	n/a
33	chr9:839126-839176	HCM	heart:	n/a
34	chr9:707166-707216	HCT-116	colon:	n/a
35	chr9:714269-714319	H1-hESC	embryonic stem cell:	embryo
36	chr9:826657-826707	SKMC	muscle:	n/a
37	chr9:707410-707460	NB4	blood:	n/a
38	chr9:714269-714319	BJ	skin:	n/a
39	chr9:826657-826707	HEK293	kidney:	embryo
40	chr9:761482-761532	Jurkat	blood:	n/a
41	chr9:707387-707437	Jurkat	blood:	n/a
42	chr9:826657-826707	SAEC	small airway:	n/a
43	chr9:707166-707216	Hepatocyte	liver:	n/a
44	chr9:761482-761532	GM12878	blood:	n/a
45	chr9:826657-826707	ovcar-3	ovarian:	n/a
46	chr9:707166-707216	MCF-7	breast:	n/a
47	chr9:707166-707216	GM12892	blood:	n/a
48	chr9:839557-839607	HRCEpiC	kidney:	n/a
49	chr9:826657-826707	BE2_C	brain:	n/a
50	chr9:707166-707216	NHBE	bronchial:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
2	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
3	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
4	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
5	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
6	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
7	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
8	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
9	chr9:705245..708353-chr9:743847..747461,3	MCF-7	breast:
10	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
11	chr9:826413..827016-chr9:1004866..1005745,2	MCF-7	breast:
12	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
13	chr9:581871..582698-chr9:763741..764739,5	MCF-7	breast:
14	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
15	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
16	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
17	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
18	chr9:682966..685572-chr9:709711..712587,2	MCF-7	breast:
19	chr9:704209..707068-chr9:719899..721523,2	MCF-7	breast:
20	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:
21	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
22	chr17:17584235..17586582-chr9:741151..743803,2	MCF-7	breast:
23	chr9:693477..696151-chr9:698863..701082,2	MCF-7	breast:
24	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
25	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
26	chr9:693477..696151-chr9:698863..701082,2	MCF-7	breast:
27	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
28	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
29	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
30	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
31	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
32	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
33	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
34	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
35	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
36	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
37	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
38	chr9:706307..708254-chr9:737100..740465,4	MCF-7	breast:
39	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
40	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
41	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
42	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
43	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
44	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
45	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
46	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
47	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
48	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
49	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
50	chr9:691921..694076-chr9:697704..699992,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
2	lnc-C9orf66-4	chr9:749336-749509	XLOC_007628
3	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
4	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
5	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
6	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
7	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
8	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
9	lnc-KANK1-1	chr9:747272-747365	NONHSAT129937
10	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
11	lnc-C9orf66-4	chr9:749336-749496	XLOC_007628

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KANK1	hsa-miR-124-3p	chr9:746043-746062
2	KANK1	hsa-miR-335-5p	chr9:746049-746071
3	KANK1	hsa-miR-10a-5p	chr9:745092-745115
4	KANK1	hsa-miR-335-5p	chr9:746085-746104
5	KANK1	hsa-miR-124-3p	chr9:746055-746062

Variant related genes	Relation type
ENSG00000227914	TF binding region
KANK1	TF binding region
DMRT1	TF binding region
ENSG00000227914	CpG island
KANK1	CpG island
DMRT1	CpG island
ENSG00000107104	chromatin interactions
ENSG00000227914	chromatin interactions
ENSG00000108557	chromatin interactions
PPM1A	miRNA target sites
FAM123B	miRNA target sites
SOD2	miRNA target sites

Extended variants
information (count: 7380 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:7380 , 50 per page) page: 1 2 3 4 5 6 7 ... 148

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4742236	chr9:686753-686754	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148494163	chr9:686772-686773	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574098451	chr9:686787-686788	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531061591	chr9:686833-686834	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs191879724	chr9:686840-686841	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142668390	chr9:686851-686852	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576557242	chr9:686854-686855	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553533537	chr9:686866-686867	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150940551	chr9:686883-686884	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7864576	chr9:686909-686910	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149329858	chr9:686946-686947	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149693109	chr9:686954-686955	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184164023	chr9:686974-686975	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368198829	chr9:686990-686991	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560940961	chr9:687002-687003	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs140432651	chr9:687021-687022	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375529907	chr9:687022-687023	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144038355	chr9:687035-687036	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs60015547	chr9:687039-687040	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73642805	chr9:687040-687041	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550968506	chr9:687072-687073	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570839318	chr9:687171-687172	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147786854	chr9:687183-687184	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7034698	chr9:687205-687206	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs188516929	chr9:687225-687226	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs116824731	chr9:687230-687231	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376678349	chr9:687237-687238	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546860663	chr9:687238-687239	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560473263	chr9:687258-687259	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7044480	chr9:687265-687266	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs575499346	chr9:687266-687267	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141219438	chr9:687294-687295	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9408679	chr9:687327-687328	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs7044607	chr9:687333-687334	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs545626601	chr9:687409-687410	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs16922561	chr9:687413-687414	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs572960643	chr9:687433-687434	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs76205855	chr9:687449-687450	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs79779617	chr9:687505-687506	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191428261	chr9:687524-687525	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544505633	chr9:687555-687556	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2361111	chr9:687592-687593	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs533360475	chr9:687648-687649	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs138457364	chr9:687684-687685	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs16922562	chr9:687693-687694	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143375191	chr9:687698-687699	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs59858868	chr9:687719-687720	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548262569	chr9:687758-687759	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs568455861	chr9:687762-687763	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs569093887	chr9:687766-687767	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:3997 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:653400-698000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:670800-706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:674400-693200	Weak transcription	Primary T cells from cord blood	blood
4	chr9:677800-689400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:678000-688000	Weak transcription	Gastric	stomach
6	chr9:678000-695200	Weak transcription	Colonic Mucosa	Colon
7	chr9:680800-692800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:682600-686800	Enhancers	Fetal Heart	heart
9	chr9:682600-687600	Flanking Active TSS	HUVEC	blood vessel
10	chr9:682800-687200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:682800-688000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr9:682800-696800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:683000-686800	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:683000-688000	Active TSS	Aorta	Aorta
15	chr9:683200-687400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:683600-692000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:683600-694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:683800-687200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:683800-689000	Enhancers	Placenta	Placenta
20	chr9:684000-687400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:684000-687400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr9:684000-687400	Enhancers	Brain Angular Gyrus	brain
23	chr9:684400-688200	Enhancers	Stomach Mucosa	stomach
24	chr9:684600-687000	Enhancers	Fetal Intestine Large	intestine
25	chr9:684600-690400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:684600-692800	Weak transcription	Ovary	ovary
27	chr9:684800-686800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:684800-686800	Enhancers	HSMM	muscle
29	chr9:684800-687000	Enhancers	Rectal Smooth Muscle	rectum
30	chr9:684800-687000	Enhancers	NHLF	lung
31	chr9:684800-687600	Enhancers	Brain Substantia Nigra	brain
32	chr9:684800-688200	Weak transcription	Fetal Kidney	kidney
33	chr9:684800-689200	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:684800-689600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:684800-692800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:685000-686800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr9:685200-689400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:685200-689400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:685200-689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr9:685200-692800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:685200-692800	Weak transcription	Fetal Stomach	stomach
42	chr9:685200-693000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:685400-687000	Flanking Active TSS	NHDF-Ad	bronchial
44	chr9:685400-688400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:685400-688400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:685400-688400	Flanking Active TSS	NHEK	skin
47	chr9:685400-690200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:685600-688800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:685600-693200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:685800-686800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links