Variant report

Variant	nsv529311
Chromosome Location	chr3:138665250-138667190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:980)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:138665913-138665957	K562	blood:	n/a	n/a
2	ATF1	chr3:138665829-138666172	K562	blood:	n/a	chr3:138666004-138666018
3	BACH1	chr3:138665821-138666009	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr3:138665062-138666787	K562	blood:	n/a	chr3:138665604-138665620
5	BRCA1	chr3:138665645-138665802	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr3:138665775-138666607	K562	blood:	n/a	n/a
7	CBX3	chr3:138665027-138665486	K562	blood:	n/a	n/a
8	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
9	CEBPB	chr3:138665919-138666064	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:138666552-138667023	K562	blood:	n/a	n/a
11	CEBPB	chr3:138665832-138666199	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:138665858-138666184	K562	blood:	n/a	n/a
13	CHD1	chr3:138665620-138665820	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr3:138666096-138666298	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr3:138664743-138666192	K562	blood:	n/a	chr3:138665882-138665892
16	CHD2	chr3:138665688-138665957	H1-hESC	embryonic stem cell:	n/a	chr3:138665882-138665892
17	CHD2	chr3:138665016-138666333	Hela-S3	cervix:	n/a	chr3:138665882-138665892
18	CHD2	chr3:138666639-138666740	K562	blood:	n/a	n/a
19	CHD2	chr3:138665042-138665404	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr3:138665913-138666105	A549	lung:	n/a	n/a
21	CREB1	chr3:138665770-138666184	A549	lung:	n/a	n/a
22	CTBP2	chr3:138663148-138666770	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:138665142-138665322	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr3:138665160-138665310	NB4	blood:	n/a	n/a
25	CTCF	chr3:138665160-138665310	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr3:138665460-138665610	NHEK	skin:	n/a	n/a
27	CTCF	chr3:138665260-138665410	HAc	cerebellar:	n/a	n/a
28	CTCF	chr3:138665160-138665310	Caco-2	colon:	n/a	n/a
29	CTCF	chr3:138665128-138665326	GM19238	blood:	n/a	n/a
30	CTCF	chr3:138665160-138665310	HMF	breast:	n/a	n/a
31	CTCF	chr3:138665160-138665310	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr3:138665120-138665270	GM12871	blood:	n/a	n/a
33	CTCF	chr3:138665120-138665270	RPTEC	kidney:	n/a	n/a
34	CTCF	chr3:138665160-138665310	GM12878	blood:	n/a	n/a
35	CTCF	chr3:138665120-138665270	GM12872	blood:	n/a	n/a
36	CTCF	chr3:138665120-138665270	AG04449	skin:	n/a	n/a
37	CTCF	chr3:138665120-138665270	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr3:138665145-138665255	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr3:138665160-138665310	HEK293	kidney:	n/a	n/a
40	CTCF	chr3:138665200-138665350	GM12865	blood:	n/a	n/a
41	CTCF	chr3:138665140-138665290	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr3:138665091-138665353	Fibrobl	skin:	n/a	n/a
43	CTCF	chr3:138665140-138665290	HCM	heart:	n/a	n/a
44	CTCF	chr3:138665140-138665290	HFF	foreskin:	n/a	n/a
45	CTCF	chr3:138665120-138665270	AG09319	gingival:	n/a	n/a
46	CTCF	chr3:138665140-138665290	AG04449	skin:	n/a	n/a
47	CTCF	chr3:138664970-138665421	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr3:138665103-138665344	IMR90	lung:	n/a	n/a
49	CTCF	chr3:138665160-138665310	GM12875	blood:	n/a	n/a
50	CTCF	chr3:138665120-138665270	AG04450	lung:	n/a	n/a

(count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138665654-138665704	IMR90	lung:	fetal
2	chr3:138666054-138666104	HIPEpiC	eye:	n/a
3	chr3:138666318-138666368	SK-N-MC	brain:	n/a
4	chr3:138666318-138666368	MCF-7	breast:	n/a
5	chr3:138665654-138665704	IMR90	lung:	fetal
6	chr3:138666054-138666104	HIPEpiC	eye:	n/a
7	chr3:138666318-138666368	SK-N-MC	brain:	n/a
8	chr3:138666318-138666368	MCF-7	breast:	n/a
9	chr3:138666144-138666194	Jurkat	blood:	n/a
10	chr3:138666050-138666100	U87	brain:	n/a
11	chr3:138665930-138665980	HEEpiC	esophagus:	n/a
12	chr3:138666054-138666104	K562	blood:	n/a
13	chr3:138666732-138666782	HEEpiC	esophagus:	n/a
14	chr3:138666048-138666098	GM06990	blood:	n/a
15	chr3:138666118-138666168	Jurkat	blood:	n/a
16	chr3:138666473-138666523	PFSK-1	brain:	n/a
17	chr3:138665930-138665980	HRCEpiC	kidney:	n/a
18	chr3:138666144-138666194	HEK293	kidney:	embryo
19	chr3:138666050-138666100	AG10803	skin:	n/a
20	chr3:138666144-138666194	RPTEC	kidney:	n/a
21	chr3:138665654-138665704	MCF10A-Er-Src	breast:	n/a
22	chr3:138665957-138666007	GM12892	blood:	n/a
23	chr3:138666050-138666100	MCF-7	breast:	n/a
24	chr3:138666050-138666100	IMR90	lung:	fetal
25	chr3:138666118-138666168	ECC-1	luminal epithelium:	n/a
26	chr3:138666885-138666935	ovcar-3	ovarian:	n/a
27	chr3:138666050-138666100	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:138666473-138666523	AG10803	skin:	n/a
29	chr3:138666054-138666104	GM12892	blood:	n/a
30	chr3:138666040-138666090	HEK293	kidney:	embryo
31	chr3:138666054-138666104	NH-A	brain:	n/a
32	chr3:138666118-138666168	HCPEpiC	choroid plexus:	n/a
33	chr3:138666719-138666769	HCPEpiC	choroid plexus:	n/a
34	chr3:138666040-138666090	Hela-S3	cervix:	n/a
35	chr3:138665654-138665704	HepG2	liver:	n/a
36	chr3:138666118-138666168	HIPEpiC	eye:	n/a
37	chr3:138665957-138666007	Caco-2	colon:	n/a
38	chr3:138666473-138666523	SKMC	muscle:	n/a
39	chr3:138666048-138666098	HRPEpiC	eye:	n/a
40	chr3:138666719-138666769	HNPCEpiC	eye:	n/a
41	chr3:138666318-138666368	BE2_C	brain:	n/a
42	chr3:138665930-138665980	Hela-S3	cervix:	n/a
43	chr3:138665816-138665866	NB4	blood:	n/a
44	chr3:138666054-138666104	HepG2	liver:	n/a
45	chr3:138666318-138666368	K562	blood:	n/a
46	chr3:138666732-138666782	GM12891	blood:	n/a
47	chr3:138666054-138666104	Hepatocyte	liver:	n/a
48	chr3:138666473-138666523	U87	brain:	n/a
49	chr3:138665654-138665704	U87	brain:	n/a
50	chr3:138666473-138666523	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:138667185..138669200-chr3:139015942..139017731,2	K562	blood:
2	chr3:138552568..138555141-chr3:138666105..138668600,2	K562	blood:
3	chr3:138663376..138665458-chr3:138892996..138895666,2	K562	blood:
4	chr3:138552263..138555163-chr3:138665790..138667540,3	K562	blood:
5	chr3:138663277..138665291-chr3:138920079..138922965,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS22-3	chr3:138666454-138666849	NONHSAT092347

No data

Variant related genes	Relation type
ENSG00000244578	TF binding region
C3orf72	TF binding region
FOXL2	TF binding region
ENSG00000244578	CpG island
C3orf72	CpG island
FOXL2	CpG island
ENSG00000051382	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs121908358	chr3:138665270-138665271	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs200435826	chr3:138665311-138665312	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs28937884	chr3:138665314-138665315	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs371946395	chr3:138665322-138665323	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs387906920	chr3:138665360-138665361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs555936408	chr3:138665361-138665362	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs104893737	chr3:138665408-138665409	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs368729164	chr3:138665436-138665437	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs187147226	chr3:138665439-138665440	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs369525308	chr3:138665451-138665452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs569790915	chr3:138665466-138665467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs551580060	chr3:138665475-138665476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs111967494	chr3:138665483-138665484	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs571473577	chr3:138665548-138665549	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs534227199	chr3:138665571-138665572	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs547635156	chr3:138665576-138665577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs567696496	chr3:138665598-138665599	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs200169078	chr3:138665605-138665606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs556654191	chr3:138665684-138665685	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs576439625	chr3:138665710-138665711	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs539109610	chr3:138665724-138665725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs558805988	chr3:138665728-138665729	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs11924939	chr3:138665796-138665797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145924266	chr3:138665815-138665816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561023238	chr3:138665842-138665843	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs574415705	chr3:138665901-138665902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs192325010	chr3:138665905-138665906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs563265663	chr3:138665951-138665952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs532092423	chr3:138666021-138666022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs551814994	chr3:138666042-138666043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs565138229	chr3:138666081-138666082	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs527874109	chr3:138666114-138666115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs570070730	chr3:138666118-138666119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs567847009	chr3:138666254-138666255	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs60136395	chr3:138666277-138666278	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549931903	chr3:138666285-138666286	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371206426	chr3:138666298-138666299	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs570002073	chr3:138666345-138666346	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs79487589	chr3:138666394-138666395	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs376935374	chr3:138666427-138666428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538538293	chr3:138666548-138666549	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs148229276	chr3:138666565-138666566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs565930675	chr3:138666604-138666605	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs534801540	chr3:138666666-138666667	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs554875372	chr3:138666696-138666697	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs574665254	chr3:138666733-138666734	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs543667088	chr3:138666807-138666808	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs556691969	chr3:138666827-138666828	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs558916545	chr3:138666860-138666861	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115865576	chr3:138666863-138666864	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Disorders of sex development	22315593	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	21321671	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
6	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
8	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:138663600-138665400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:138663800-138665400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:138663800-138665800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
17	chr3:138663800-138666200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr3:138663800-138666400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:138663800-138666400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:138663800-138666400	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr3:138664000-138666200	Bivalent/Poised TSS	HSMM	muscle
22	chr3:138664200-138665800	Enhancers	Gastric	stomach
23	chr3:138664200-138666400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:138664200-138666600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:138664400-138665400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr3:138664400-138666000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr3:138664400-138666400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:138664400-138666600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:138664400-138666600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr3:138664400-138666800	Active TSS	NHDF-Ad	bronchial
31	chr3:138664600-138665400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr3:138664600-138665600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:138664600-138665800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr3:138664600-138666000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr3:138664600-138666400	Active TSS	Aorta	Aorta
36	chr3:138664600-138666600	Active TSS	K562	blood
37	chr3:138664600-138668800	Active TSS	Ovary	ovary
38	chr3:138664800-138665400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:138664800-138665400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
40	chr3:138664800-138665400	Bivalent/Poised TSS	Esophagus	oesophagus
41	chr3:138664800-138665400	Flanking Active TSS	HMEC	breast
42	chr3:138664800-138665600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
43	chr3:138664800-138665600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:138664800-138665800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr3:138664800-138665800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:138664800-138665800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
47	chr3:138664800-138666000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr3:138664800-138666000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr3:138664800-138666200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:138664800-138666200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links