Variant report

Variant	nsv1024648
Chromosome Location	chr5:118608175-118678268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2692)
CpG islands
(count:732)
Chromatin interactive
region (count:154)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2692 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118660065-118660496	K562	blood:	n/a	n/a
2	ARID3A	chr5:118667440-118667954	K562	blood:	n/a	n/a
3	ARID3A	chr5:118675431-118676059	K562	blood:	n/a	n/a
4	ARID3A	chr5:118673259-118673296	K562	blood:	n/a	n/a
5	ARID3A	chr5:118655094-118655523	K562	blood:	n/a	n/a
6	ARID3A	chr5:118658356-118658597	K562	blood:	n/a	n/a
7	ARID3A	chr5:118663927-118664031	K562	blood:	n/a	n/a
8	ARID3A	chr5:118664564-118664861	K562	blood:	n/a	n/a
9	ARID3A	chr5:118657288-118657781	K562	blood:	n/a	n/a
10	ARID3A	chr5:118651348-118651670	K562	blood:	n/a	n/a
11	ARID3A	chr5:118665689-118666797	K562	blood:	n/a	n/a
12	ARID3A	chr5:118638541-118639268	HepG2	liver:	n/a	n/a
13	ARID3A	chr5:118658800-118659154	K562	blood:	n/a	n/a
14	ARID3A	chr5:118653617-118654445	K562	blood:	n/a	n/a
15	ARID3A	chr5:118670705-118671029	HepG2	liver:	n/a	n/a
16	ATF1	chr5:118655167-118655680	K562	blood:	n/a	n/a
17	ATF1	chr5:118667517-118667956	K562	blood:	n/a	n/a
18	ATF1	chr5:118644542-118644901	K562	blood:	n/a	n/a
19	ATF1	chr5:118677891-118678079	K562	blood:	n/a	n/a
20	ATF1	chr5:118676333-118677014	K562	blood:	n/a	n/a
21	ATF1	chr5:118626054-118626933	K562	blood:	n/a	n/a
22	ATF1	chr5:118657270-118657692	K562	blood:	n/a	n/a
23	ATF1	chr5:118665638-118666756	K562	blood:	n/a	n/a
24	ATF1	chr5:118658357-118659078	K562	blood:	n/a	n/a
25	ATF1	chr5:118653922-118654160	K562	blood:	n/a	n/a
26	ATF1	chr5:118623207-118623663	K562	blood:	n/a	n/a
27	ATF1	chr5:118670279-118670327	K562	blood:	n/a	n/a
28	ATF1	chr5:118645235-118645417	K562	blood:	n/a	n/a
29	ATF1	chr5:118659999-118660428	K562	blood:	n/a	n/a
30	ATF1	chr5:118621241-118621642	K562	blood:	n/a	n/a
31	ATF1	chr5:118638544-118639090	K562	blood:	n/a	n/a
32	ATF2	chr5:118662713-118663170	GM12878	blood:	n/a	n/a
33	ATF2	chr5:118651246-118651732	GM12878	blood:	n/a	n/a
34	ATF2	chr5:118623132-118623611	GM12878	blood:	n/a	n/a
35	ATF2	chr5:118659919-118660370	GM12878	blood:	n/a	n/a
36	ATF2	chr5:118623096-118623896	GM12878	blood:	n/a	n/a
37	ATF2	chr5:118644463-118645102	GM12878	blood:	n/a	n/a
38	ATF2	chr5:118644465-118645009	GM12878	blood:	n/a	n/a
39	ATF2	chr5:118675651-118678448	GM12878	blood:	n/a	n/a
40	ATF2	chr5:118653921-118654312	GM12878	blood:	n/a	n/a
41	ATF2	chr5:118610850-118611870	GM12878	blood:	n/a	n/a
42	ATF2	chr5:118670480-118670949	GM12878	blood:	n/a	n/a
43	ATF2	chr5:118653798-118654365	GM12878	blood:	n/a	n/a
44	ATF2	chr5:118675485-118677940	GM12878	blood:	n/a	n/a
45	ATF2	chr5:118667855-118669525	GM12878	blood:	n/a	n/a
46	ATF2	chr5:118625839-118626272	GM12878	blood:	n/a	n/a
47	ATF3	chr5:118658658-118659215	K562	blood:	n/a	n/a
48	ATF3	chr5:118657277-118657663	K562	blood:	n/a	n/a
49	ATF3	chr5:118665949-118666593	K562	blood:	n/a	n/a
50	ATF3	chr5:118638490-118639297	A549	lung:	n/a	chr5:118638653-118638666

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118638618-118638668	T-47D	breast:	n/a
2	chr5:118638618-118638668	K562	blood:	n/a
3	chr5:118609467-118609517	ProgFib	skin:	n/a
4	chr5:118609258-118609308	HPAEpiC	pulmonary alveolar:	n/a
5	chr5:118658343-118658393	HEEpiC	esophagus:	n/a
6	chr5:118609467-118609517	IMR90	lung:	fetal
7	chr5:118677172-118677222	U87	brain:	n/a
8	chr5:118638618-118638668	HCPEpiC	choroid plexus:	n/a
9	chr5:118626530-118626580	HNPCEpiC	eye:	n/a
10	chr5:118676053-118676103	HIPEpiC	eye:	n/a
11	chr5:118635650-118635700	HMEC	breast:	n/a
12	chr5:118676053-118676103	GM12892	blood:	n/a
13	chr5:118635650-118635700	Hepatocyte	liver:	n/a
14	chr5:118608672-118608722	GM12878	blood:	n/a
15	chr5:118608672-118608722	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:118626530-118626580	HRCEpiC	kidney:	n/a
17	chr5:118676053-118676103	SAEC	small airway:	n/a
18	chr5:118609965-118610015	AG10803	skin:	n/a
19	chr5:118609467-118609517	AoSMC	blood vessel:	n/a
20	chr5:118677172-118677222	PANC-1	pancreas:	n/a
21	chr5:118609258-118609308	BE2_C	brain:	n/a
22	chr5:118676053-118676103	HEK293	kidney:	embryo
23	chr5:118676053-118676103	HNPCEpiC	eye:	n/a
24	chr5:118638618-118638668	BJ	skin:	n/a
25	chr5:118608672-118608722	MCF-7	breast:	n/a
26	chr5:118665275-118665325	ECC-1	luminal epithelium:	n/a
27	chr5:118623661-118623711	HNPCEpiC	eye:	n/a
28	chr5:118609467-118609517	ovcar-3	ovarian:	n/a
29	chr5:118635650-118635700	NT2-D1	testis:	n/a
30	chr5:118676053-118676103	H1-hESC	embryonic stem cell:	embryo
31	chr5:118677172-118677222	Hepatocyte	liver:	n/a
32	chr5:118608672-118608722	NHBE	bronchial:	n/a
33	chr5:118609258-118609308	ProgFib	skin:	n/a
34	chr5:118609965-118610015	U87	brain:	n/a
35	chr5:118623661-118623711	GM12878	blood:	n/a
36	chr5:118635650-118635700	Hela-S3	cervix:	n/a
37	chr5:118609258-118609308	K562	blood:	n/a
38	chr5:118626530-118626580	BE2_C	brain:	n/a
39	chr5:118658343-118658393	SK-N-SH	brain:	n/a
40	chr5:118626530-118626580	AG04450	lung:	fetal
41	chr5:118609467-118609517	PANC-1	pancreas:	n/a
42	chr5:118609258-118609308	AG04450	lung:	fetal
43	chr5:118658343-118658393	PFSK-1	brain:	n/a
44	chr5:118608672-118608722	IMR90	lung:	fetal
45	chr5:118609965-118610015	HAEpiC	amniotic membrane:	n/a
46	chr5:118623661-118623711	BE2_C	brain:	n/a
47	chr5:118626530-118626580	GM12892	blood:	n/a
48	chr5:118658343-118658393	HIPEpiC	eye:	n/a
49	chr5:118676053-118676103	BE2_C	brain:	n/a
50	chr5:118635650-118635700	HRCEpiC	kidney:	n/a

(count:154 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:118658870..118659716-chr5:118670433..118671147,2	MCF-7	breast:
2	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
3	chr5:118675434..118678874-chr5:118679948..118684456,6	K562	blood:
4	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:
5	chr5:118604332..118606095-chr5:118657146..118658949,2	K562	blood:
6	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
7	chr5:118603582..118605779-chr5:118616439..118618624,3	K562	blood:
8	chr5:118322721..118325566-chr5:118647562..118649989,2	K562	blood:
9	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
10	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
11	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:
12	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
13	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
14	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
15	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:
16	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:
17	chr5:118636676..118639200-chr5:118642747..118645465,2	MCF-7	breast:
18	chr5:118650696..118652254-chr5:118657366..118659634,2	K562	blood:
19	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
20	chr5:118607471..118609020-chr5:118732482..118735110,2	MCF-7	breast:
21	chr5:118651451..118652140-chr5:118670433..118670936,2	MCF-7	breast:
22	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:
23	chr5:118636247..118638488-chr5:118660209..118662344,2	K562	blood:
24	chr5:118655262..118657300-chr5:118715734..118717406,2	K562	blood:
25	chr5:118657545..118660417-chr5:118661567..118663865,2	MCF-7	breast:
26	chr5:118623648..118626074-chr5:118666762..118668589,2	MCF-7	breast:
27	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
28	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:
29	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:
30	chr5:118609066..118610745-chr5:118637168..118638991,2	K562	blood:
31	chr5:118602770..118605467-chr5:118650194..118652085,2	MCF-7	breast:
32	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
33	chr5:118617115..118620555-chr5:118621915..118624851,4	MCF-7	breast:
34	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:
35	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
36	chr5:118604371..118606578-chr5:118640818..118642432,2	K562	blood:
37	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
38	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
39	chr5:118603356..118604946-chr5:118636631..118638796,2	K562	blood:
40	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
41	chr5:118657545..118660417-chr5:118661567..118663865,2	MCF-7	breast:
42	chr5:118603937..118605815-chr5:118625009..118626718,2	K562	blood:
43	chr5:118603726..118606822-chr5:118616119..118619037,3	MCF-7	breast:
44	chr5:118603550..118606082-chr5:118645592..118647525,2	MCF-7	breast:
45	chr5:118634440..118637446-chr5:118640302..118642986,4	K562	blood:
46	chr5:118660112..118661671-chr5:118661964..118664780,2	MCF-7	breast:
47	chr5:118647069..118648702-chr5:118653056..118655905,2	K562	blood:
48	chr5:118642887..118645092-chr5:118652182..118653944,2	K562	blood:
49	chr5:118626131..118628093-chr5:118660275..118662389,2	K562	blood:
50	chr5:118603499..118605082-chr5:118615782..118618540,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-8	chr5:118677271-118680524	NONHSAT103433
2	lnc-DTWD2-9	chr5:118642039-118642326	NONHSAT103432

No data

Variant related genes	Relation type
RN7SL174P	TF binding region
TNFAIP8	TF binding region
RN7SL174P	CpG island
TNFAIP8	CpG island
ENSG00000243333	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000249494	chromatin interactions

Extended variants
information (count: 3061 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3061 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13361153	chr5:118608175-118608176	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556436885	chr5:118608191-118608192	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549080843	chr5:118608220-118608221	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562618581	chr5:118608226-118608227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1995554	chr5:118608240-118608241	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141829132	chr5:118608304-118608305	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551156814	chr5:118608307-118608308	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571015334	chr5:118608309-118608310	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539736523	chr5:118608331-118608332	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146287142	chr5:118608404-118608405	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566507263	chr5:118608407-118608408	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7709638	chr5:118608427-118608428	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139028223	chr5:118608430-118608431	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182564055	chr5:118608484-118608485	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537599420	chr5:118608486-118608487	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557942661	chr5:118608517-118608518	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149881028	chr5:118608520-118608521	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540509242	chr5:118608547-118608548	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554140133	chr5:118608561-118608562	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573641996	chr5:118608572-118608573	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542665814	chr5:118608577-118608578	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562396522	chr5:118608616-118608617	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187217531	chr5:118608626-118608627	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545315751	chr5:118608672-118608673	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114646703	chr5:118608673-118608674	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564700552	chr5:118608714-118608715	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533377713	chr5:118608737-118608738	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191646482	chr5:118608744-118608745	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566842101	chr5:118608751-118608752	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529223927	chr5:118608776-118608777	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549364210	chr5:118608805-118608806	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113611625	chr5:118608820-118608821	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148644575	chr5:118608833-118608834	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34755328	chr5:118608839-118608840	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543027314	chr5:118608846-118608847	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76647330	chr5:118608849-118608850	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373010152	chr5:118608858-118608859	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533990668	chr5:118608881-118608882	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564351526	chr5:118608896-118608897	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554080674	chr5:118608958-118608959	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116741705	chr5:118608960-118608961	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542216938	chr5:118608990-118608991	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145520094	chr5:118609119-118609120	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183531890	chr5:118609146-118609147	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200781192	chr5:118609147-118609148	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545066993	chr5:118609154-118609155	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564674179	chr5:118609155-118609156	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533315046	chr5:118609202-118609203	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79894500	chr5:118609232-118609233	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115825945	chr5:118609252-118609253	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Prostate cancer	22341455	CNVD
Gastric cancer	17229543	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3018 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118608400	Weak transcription	Esophagus	oesophagus
4	chr5:118605400-118609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:118605400-118609000	Enhancers	Fetal Heart	heart
6	chr5:118605400-118609200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:118605400-118609200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:118605400-118609400	Weak transcription	Colonic Mucosa	Colon
9	chr5:118605400-118609600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:118605400-118609800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:118605400-118609800	Weak transcription	NH-A	brain
12	chr5:118605400-118609800	Weak transcription	Osteobl	bone
13	chr5:118605400-118610000	Weak transcription	Liver	Liver
14	chr5:118605400-118610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:118605400-118611200	Weak transcription	Lung	lung
17	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:118605600-118608400	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:118605600-118608400	Weak transcription	Right Ventricle	heart
20	chr5:118605600-118608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:118605600-118608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:118605600-118608800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:118605600-118608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:118605600-118608800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:118605600-118608800	Weak transcription	HMEC	breast
26	chr5:118605600-118609000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:118605600-118609200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:118605600-118609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:118605600-118609200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:118605600-118609400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
33	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
34	chr5:118606000-118608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:118606000-118608800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:118606000-118608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:118606000-118609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:118606000-118609200	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:118606000-118609200	Weak transcription	HUVEC	blood vessel
40	chr5:118606000-118609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:118606000-118610000	Weak transcription	NHLF	lung
42	chr5:118606000-118610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:118606200-118608400	Weak transcription	Left Ventricle	heart
44	chr5:118606200-118608800	Weak transcription	NHEK	skin
45	chr5:118606200-118609200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
47	chr5:118606400-118608400	Genic enhancers	A549	lung
48	chr5:118606400-118610200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr5:118606600-118608200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr5:118606600-118608200	Flanking Active TSS	Thymus	Thymus

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