Variant report

Variant	nsv826953
Chromosome Location	chr1:228191929-228196867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:228192012-228192223	K562	blood:	n/a	n/a
2	BRCA1	chr1:228192045-228192445	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr1:228191975-228192134	HepG2	liver:	n/a	n/a
4	CHD2	chr1:228195016-228195184	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr1:228192630-228192828	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr1:228191942-228194483	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr1:228194818-228196031	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:228191987-228192321	GM19238	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
9	CTCF	chr1:228192100-228192250	NHDF-neo	bronchial:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
10	CTCF	chr1:228192080-228192230	HPF	lung:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
11	CTCF	chr1:228192120-228192270	HCPEpiC	choroid plexus:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
12	CTCF	chr1:228192100-228192250	NHLF	lung:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
13	CTCF	chr1:228192720-228192870	HEK293	kidney:	n/a	chr1:228192794-228192815 chr1:228192792-228192810
14	CTCF	chr1:228192080-228192230	HEK293	kidney:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
15	CTCF	chr1:228192760-228192910	HBMEC	blood vessel:	n/a	chr1:228192794-228192815 chr1:228192792-228192810
16	CTCF	chr1:228192007-228192313	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
17	CTCF	chr1:228191852-228192602	HCT-116	colon:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171 chr1:228192546-228192559
18	CTCF	chr1:228192080-228192230	GM12869	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
19	CTCF	chr1:228192080-228192230	HVMF	connective:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
20	CTCF	chr1:228192040-228192190	GM12864	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
21	CTCF	chr1:228192080-228192230	GM12872	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
22	CTCF	chr1:228192100-228192250	WERI-Rb-1	eye:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
23	CTCF	chr1:228192100-228192250	BJ	skin:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
24	CTCF	chr1:228192060-228192210	AG09319	gingival:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
25	CTCF	chr1:228192060-228192210	HCFaa	heart:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
26	CTCF	chr1:228192026-228192275	MCF-7	breast:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
27	CTCF	chr1:228192880-228193030	GM06990	blood:	n/a	n/a
28	CTCF	chr1:228192060-228192210	HL-60	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
29	CTCF	chr1:228192820-228192970	HEK293	kidney:	n/a	n/a
30	CTCF	chr1:228192700-228192850	HUVEC	blood vessel:	n/a	chr1:228192794-228192815 chr1:228192792-228192810
31	CTCF	chr1:228192080-228192230	GM12874	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
32	CTCF	chr1:228191938-228192347	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
33	CTCF	chr1:228192800-228192950	HepG2	liver:	n/a	n/a
34	CTCF	chr1:228192013-228192293	MCF-7	breast:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
35	CTCF	chr1:228192060-228192210	GM12871	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
36	CTCF	chr1:228192060-228192210	GM12868	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
37	CTCF	chr1:228192040-228192190	HFF-Myc	foreskin:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
38	CTCF	chr1:228192060-228192210	GM12867	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
39	CTCF	chr1:228192780-228192930	A549	lung:	n/a	chr1:228192794-228192815 chr1:228192792-228192810
40	CTCF	chr1:228191833-228191930	NHEK	skin:	n/a	n/a
41	CTCF	chr1:228192036-228192465	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
42	CTCF	chr1:228192044-228192266	A549	lung:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
43	CTCF	chr1:228192714-228192775	K562	blood:	n/a	n/a
44	CTCF	chr1:228192100-228192250	Hela-S3	cervix:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
45	CTCF	chr1:228192060-228192210	BE2_C	brain:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
46	CTCF	chr1:228192080-228192230	GM12873	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
47	CTCF	chr1:228192120-228192270	NHEK	skin:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
48	CTCF	chr1:228192080-228192230	HBMEC	blood vessel:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
49	CTCF	chr1:228192760-228192910	GM12864	blood:	n/a	chr1:228192794-228192815 chr1:228192792-228192810
50	CTCF	chr1:228192037-228192313	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228193585-228193635	AoSMC	blood vessel:	n/a
2	chr1:228193237-228193287	NHBE	bronchial:	n/a
3	chr1:228193585-228193635	SKMC	muscle:	n/a
4	chr1:228193585-228193635	AoSMC	blood vessel:	n/a
5	chr1:228193237-228193287	NHBE	bronchial:	n/a
6	chr1:228193585-228193635	SKMC	muscle:	n/a
7	chr1:228194036-228194086	AoSMC	blood vessel:	n/a
8	chr1:228196198-228196248	HCM	heart:	n/a
9	chr1:228194916-228194966	SAEC	small airway:	n/a
10	chr1:228196198-228196248	HRE	kidney:	n/a
11	chr1:228195779-228195829	AG09319	gingival:	n/a
12	chr1:228195794-228195844	BE2_C	brain:	n/a
13	chr1:228196376-228196426	GM06990	blood:	n/a
14	chr1:228196376-228196426	HCPEpiC	choroid plexus:	n/a
15	chr1:228196376-228196426	LNCaP	prostate:	n/a
16	chr1:228195794-228195844	PANC-1	pancreas:	n/a
17	chr1:228195779-228195829	AoSMC	blood vessel:	n/a
18	chr1:228195083-228195133	HAEpiC	amniotic membrane:	n/a
19	chr1:228193585-228193635	U87	brain:	n/a
20	chr1:228196376-228196426	U87	brain:	n/a
21	chr1:228195779-228195829	NHBE	bronchial:	n/a
22	chr1:228194476-228194526	HNPCEpiC	eye:	n/a
23	chr1:228195083-228195133	SK-N-SH_RA	brain:	n/a
24	chr1:228195779-228195829	PFSK-1	brain:	n/a
25	chr1:228196198-228196248	HCT-116	colon:	n/a
26	chr1:228196376-228196426	ovcar-3	ovarian:	n/a
27	chr1:228193587-228193637	PANC-1	pancreas:	n/a
28	chr1:228195779-228195829	NB4	blood:	n/a
29	chr1:228196198-228196248	Jurkat	blood:	n/a
30	chr1:228193585-228193635	HRCEpiC	kidney:	n/a
31	chr1:228193587-228193637	HCM	heart:	n/a
32	chr1:228195377-228195427	GM12892	blood:	n/a
33	chr1:228195522-228195572	SKMC	muscle:	n/a
34	chr1:228194443-228194493	A549	lung:	n/a
35	chr1:228193529-228193579	HNPCEpiC	eye:	n/a
36	chr1:228195794-228195844	HCF	heart:	n/a
37	chr1:228194036-228194086	SK-N-SH_RA	brain:	n/a
38	chr1:228193237-228193287	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:228195779-228195829	HNPCEpiC	eye:	n/a
40	chr1:228193529-228193579	HCM	heart:	n/a
41	chr1:228195522-228195572	AG09309	skin:	n/a
42	chr1:228195794-228195844	NB4	blood:	n/a
43	chr1:228196227-228196277	GM19239	blood:	n/a
44	chr1:228194036-228194086	MCF10A-Er-Src	breast:	n/a
45	chr1:228195794-228195844	CMK	blood:	n/a
46	chr1:228193237-228193287	T-47D	breast:	n/a
47	chr1:228195779-228195829	HCM	heart:	n/a
48	chr1:228196198-228196248	HEK293	kidney:	embryo
49	chr1:228195083-228195133	HIPEpiC	eye:	n/a
50	chr1:228195377-228195427	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228196689..228198399-chr1:228395610..228397329,2	MCF-7	breast:
2	chr1:228193720..228196616-chr1:228296879..228298469,2	MCF-7	breast:
3	chr1:228191736..228192588-chr1:228261257..228262099,3	K562	blood:
4	chr1:228195432..228198403-chr1:228200183..228201767,2	K562	blood:
5	chr1:228191722..228192673-chr1:228250185..228251379,8	MCF-7	breast:
6	chr1:228184192..228186220-chr1:228191479..228194171,2	MCF-7	breast:
7	chr1:228194958..228197764-chr1:228296157..228297740,2	K562	blood:
8	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
9	chr1:228191780..228193444-chr1:228317568..228320348,2	MCF-7	breast:
10	chr1:228190941..228192847-chr1:228260763..228262214,8	MCF-7	breast:
11	chr1:228190431..228192672-chr1:228192836..228195791,3	K562	blood:
12	chr1:228191659..228192604-chr1:228250180..228251187,13	MCF-7	breast:
13	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
14	chr1:228190517..228193309-chr1:228296399..228298991,3	K562	blood:
15	chr1:228183425..228185730-chr1:228191246..228193322,2	K562	blood:
16	chr1:228191286..228192801-chr1:228197982..228200475,2	K562	blood:
17	chr1:228191411..228193255-chr1:228202404..228204319,2	MCF-7	breast:
18	chr1:228191722..228192636-chr1:228703111..228703660,2	K562	blood:
19	chr1:228194854..228196535-chr1:228199538..228201142,2	MCF-7	breast:
20	chr1:228196561..228199539-chr1:228260175..228262293,2	MCF-7	breast:
21	chr1:228191198..228193021-chr1:228266290..228268211,2	MCF-7	breast:
22	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
23	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
24	chr1:228191350..228193786-chr1:228257693..228259549,2	MCF-7	breast:
25	chr1:228192133..228194243-chr1:228287809..228289393,2	K562	blood:
26	chr1:228185587..228188986-chr1:228190632..228193211,3	MCF-7	breast:
27	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
28	chr1:228191745..228192555-chr1:228261259..228261971,3	MCF-7	breast:
29	chr1:228190330..228192732-chr1:228296220..228298722,2	MCF-7	breast:
30	chr1:228191864..228192376-chr1:228290175..228290810,2	MCF-7	breast:

Variant related genes	Relation type
WNT3A	TF binding region
WNT3A	CpG island
ENSG00000154358	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000154342	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000143793	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377308160	chr1:228191959-228191960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs568300004	chr1:228191989-228191990	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs140354160	chr1:228192004-228192005	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs113304793	chr1:228192033-228192034	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556902373	chr1:228192083-228192084	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573372326	chr1:228192096-228192097	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540673682	chr1:228192115-228192116	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562075005	chr1:228192116-228192117	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs570591888	chr1:228192129-228192130	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs192779550	chr1:228192173-228192174	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs563144100	chr1:228192198-228192199	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs562785318	chr1:228192227-228192228	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs533008193	chr1:228192229-228192230	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs184164995	chr1:228192349-228192350	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs190717922	chr1:228192394-228192395	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs697761	chr1:228192397-228192398	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs697762	chr1:228192410-228192411	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs566941867	chr1:228192414-228192415	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537412038	chr1:228192427-228192428	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs708112	chr1:228192452-228192453	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs569515042	chr1:228192460-228192461	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs539694434	chr1:228192517-228192518	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs697763	chr1:228192622-228192623	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs573435900	chr1:228192640-228192641	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs150352640	chr1:228192648-228192649	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs34418181	chr1:228192743-228192744	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76129308	chr1:228192746-228192747	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs708113	chr1:228192753-228192754	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544572485	chr1:228192770-228192771	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs530614914	chr1:228192773-228192774	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs562687013	chr1:228192813-228192814	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138015941	chr1:228192881-228192882	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544933764	chr1:228192885-228192886	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs559916915	chr1:228192898-228192899	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs527453644	chr1:228192938-228192939	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs76270158	chr1:228192967-228192968	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138403478	chr1:228192988-228192989	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567003999	chr1:228193014-228193015	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs531237442	chr1:228193030-228193031	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549750457	chr1:228193053-228193054	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs552294123	chr1:228193078-228193079	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs181772526	chr1:228193092-228193093	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs540136811	chr1:228193186-228193187	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551742332	chr1:228193238-228193239	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs368257945	chr1:228193263-228193264	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs186128231	chr1:228193368-228193369	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555932588	chr1:228193379-228193380	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574178364	chr1:228193391-228193392	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs74672629	chr1:228193393-228193394	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112871589	chr1:228193412-228193413	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228191000-228194400	Weak transcription	Right Atrium	heart
2	chr1:228191600-228192200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr1:228191600-228192200	Bivalent Enhancer	Right Ventricle	heart
4	chr1:228191800-228192000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228191800-228192000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:228191800-228192000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:228191800-228193000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr1:228191800-228193200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:228191800-228193800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:228191800-228194000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:228191800-228194200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:228192000-228192200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:228192000-228192200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
14	chr1:228192000-228192200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:228192000-228192200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr1:228192000-228192200	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr1:228192000-228192200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr1:228192000-228192200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr1:228192000-228192400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:228192000-228192600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:228192000-228192800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr1:228192000-228192800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:228192000-228192800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr1:228192000-228192800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr1:228192000-228193200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr1:228192000-228194000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:228192000-228194600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr1:228192000-228194600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr1:228192200-228192400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:228192200-228192400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
31	chr1:228192200-228192400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr1:228192200-228192400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:228192200-228192400	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr1:228192200-228192400	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr1:228192200-228192400	Bivalent Enhancer	Placenta	Placenta
36	chr1:228192200-228192400	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr1:228192200-228192600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:228192200-228192600	Bivalent Enhancer	HepG2	liver
39	chr1:228192200-228192800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr1:228192200-228192800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr1:228192200-228192800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:228192200-228192800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr1:228192200-228192800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr1:228192200-228193000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr1:228192200-228193000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr1:228192200-228193600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:228192200-228194000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:228192200-228196800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:228192400-228192600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr1:228192400-228192600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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