Variant report

Variant	rs3918201
Chromosome Location	chr7:150707344-150707345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:150707143-150708184	K562	blood:	n/a	n/a
2	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
3	POLR2A	chr7:150706615-150708272	K562	blood:	n/a	n/a
4	RCOR1	chr7:150707231-150708161	K562	blood:	n/a	n/a
5	TBP	chr7:150706598-150708408	K562	blood:	n/a	n/a
6	TEAD4	chr7:150707070-150708234	K562	blood:	n/a	n/a
7	SP1	chr7:150707283-150707759	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:150706932-150708211	K562	blood:	n/a	chr7:150707050-150707058
9	SP1	chr7:150707267-150707742	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr7:150706956-150708146	K562	blood:	n/a	chr7:150707050-150707058
11	POLR2A	chr7:150706649-150708456	K562	blood:	n/a	n/a
12	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
13	TBL1XR1	chr7:150707333-150708151	K562	blood:	n/a	n/a
14	SP1	chr7:150707215-150707833	A549	lung:	n/a	n/a
15	HDAC2	chr7:150707206-150707771	K562	blood:	n/a	chr7:150707468-150707476
16	POLR2A	chr7:150706404-150707405	HepG2	liver:	n/a	n/a
17	ELF1	chr7:150707098-150707424	K562	blood:	n/a	n/a
18	HMGN3	chr7:150707130-150708126	K562	blood:	n/a	n/a
19	TRIM28	chr7:150707310-150708348	K562	blood:	n/a	n/a
20	TEAD4	chr7:150707309-150707791	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:150705122-150708335	K562	blood:	n/a	n/a
22	POLR2A	chr7:150706781-150708510	K562	blood:	n/a	n/a
23	POLR2A	chr7:150707338-150707927	K562	blood:	n/a	n/a
24	CBX3	chr7:150707102-150708607	K562	blood:	n/a	n/a
25	TEAD4	chr7:150707297-150707795	K562	blood:	n/a	n/a
26	ETS1	chr7:150707259-150708315	K562	blood:	n/a	chr7:150708275-150708288
27	MAZ	chr7:150704780-150708264	K562	blood:	n/a	chr7:150706433-150706443
28	POLR2A	chr7:150705157-150708493	K562	blood:	n/a	n/a
29	MAX	chr7:150704941-150708585	K562	blood:	n/a	chr7:150706433-150706443
30	SP1	chr7:150707256-150707825	A549	lung:	n/a	n/a
31	TEAD4	chr7:150707317-150707777	H1-hESC	embryonic stem cell:	n/a	n/a
32	CCNT2	chr7:150707232-150707920	K562	blood:	n/a	n/a
33	POLR2A	chr7:150705134-150708525	K562	blood:	n/a	n/a
34	ELF1	chr7:150707111-150708317	K562	blood:	n/a	n/a
35	YY1	chr7:150707305-150708351	K562	blood:	n/a	n/a
36	MYC	chr7:150705110-150708405	K562	blood:	n/a	chr7:150706433-150706443
37	NR2F2	chr7:150707340-150708414	K562	blood:	n/a	n/a
38	POLR2A	chr7:150706898-150708410	K562	blood:	n/a	n/a
39	UBTF	chr7:150706981-150707962	K562	blood:	n/a	n/a
40	TAF1	chr7:150707219-150708118	K562	blood:	n/a	n/a
41	SP1	chr7:150707224-150707843	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150707313-150707363	HRE	kidney:	n/a
2	chr7:150707313-150707363	GM19239	blood:	n/a
3	chr7:150707313-150707363	HCF	heart:	n/a
4	chr7:150707313-150707363	HNPCEpiC	eye:	n/a
5	chr7:150707313-150707363	HL-60	blood:	n/a
6	chr7:150707313-150707363	GM06990	blood:	n/a
7	chr7:150707313-150707363	HEK293	kidney:	embryo
8	chr7:150707313-150707363	LNCaP	prostate:	n/a
9	chr7:150707313-150707363	ProgFib	skin:	n/a
10	chr7:150707313-150707363	T-47D	breast:	n/a
11	chr7:150707313-150707363	IMR90	lung:	fetal
12	chr7:150707313-150707363	HCM	heart:	n/a
13	chr7:150707313-150707363	HRCEpiC	kidney:	n/a
14	chr7:150707313-150707363	AG04450	lung:	fetal
15	chr7:150707313-150707363	MCF10A-Er-Src	breast:	n/a
16	chr7:150707313-150707363	SK-N-SH	brain:	n/a
17	chr7:150707313-150707363	Caco-2	colon:	n/a
18	chr7:150707313-150707363	NT2-D1	testis:	n/a
19	chr7:150707313-150707363	ovcar-3	ovarian:	n/a
20	chr7:150707313-150707363	BJ	skin:	n/a
21	chr7:150707313-150707363	HRPEpiC	eye:	n/a
22	chr7:150707313-150707363	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:150707313-150707363	HepG2	liver:	n/a
24	chr7:150707313-150707363	ECC-1	luminal epithelium:	n/a
25	chr7:150707313-150707363	U87	brain:	n/a
26	chr7:150707313-150707363	SKMC	muscle:	n/a
27	chr7:150707313-150707363	AG09309	skin:	n/a
28	chr7:150707313-150707363	PFSK-1	brain:	n/a
29	chr7:150707313-150707363	NHDF-neo	bronchial:	n/a
30	chr7:150707313-150707363	GM12892	blood:	n/a
31	chr7:150707313-150707363	RPTEC	kidney:	n/a
32	chr7:150707313-150707363	Hela-S3	cervix:	n/a
33	chr7:150707313-150707363	AoSMC	blood vessel:	n/a
34	chr7:150707313-150707363	SAEC	small airway:	n/a
35	chr7:150707313-150707363	SK-N-MC	brain:	n/a
36	chr7:150707313-150707363	AG10803	skin:	n/a
37	chr7:150707313-150707363	HMEC	breast:	n/a
38	chr7:150707313-150707363	GM12878	blood:	n/a
39	chr7:150707313-150707363	BE2_C	brain:	n/a
40	chr7:150707313-150707363	H1-hESC	embryonic stem cell:	embryo
41	chr7:150707313-150707363	HAEpiC	amniotic membrane:	n/a
42	chr7:150707313-150707363	K562	blood:	n/a
43	chr7:150707313-150707363	Jurkat	blood:	n/a
44	chr7:150707313-150707363	NHBE	bronchial:	n/a
45	chr7:150707313-150707363	HEEpiC	esophagus:	n/a
46	chr7:150707313-150707363	A549	lung:	n/a
47	chr7:150707313-150707363	SK-N-SH_RA	brain:	n/a
48	chr7:150707313-150707363	HUVEC	blood vessel:	n/a
49	chr7:150707313-150707363	PANC-1	pancreas:	n/a
50	chr7:150707313-150707363	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
2	chr7:150706188..150708123-chr7:150710621..150712135,2	MCF-7	breast:

No data

Variant related genes	Relation type
NOS3	TF binding region
NOS3	CpG island
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10156189	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs1049742	1.00[CHD][hapmap]
rs2069457	1.00[CHD][hapmap]
rs2069458	1.00[AMR][1000 genomes]
rs2373928	1.00[CHD][hapmap]
rs2792441	1.00[CHB][hapmap]
rs35681353	1.00[CHD][hapmap]
rs3918166	1.00[MEX][hapmap]
rs3918216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918232	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs41483644	1.00[AMR][1000 genomes]
rs73472583	1.00[AMR][1000 genomes]
rs73472587	1.00[AMR][1000 genomes]
rs73474700	1.00[AMR][1000 genomes]
rs73478620	1.00[AMR][1000 genomes]
rs73478626	1.00[AMR][1000 genomes]
rs73478660	1.00[AMR][1000 genomes]
rs9785017	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
3	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
10	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv274999	chr7:150701010-150708089	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv889472	chr7:150703414-150707837	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv609003	chr7:150703915-150708035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv609004	chr7:150703915-150708089	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv609005	chr7:150704400-150708035	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv609006	chr7:150704400-150708089	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv889473	chr7:150705413-150709571	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv609007	chr7:150705842-150708089	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv609008	chr7:150705926-150708035	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv609009	chr7:150705926-150708089	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv609010	chr7:150706383-150708089	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
5	chr7:150705600-150708000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:150705800-150707400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:150705800-150707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:150705800-150707600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:150705800-150708200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:150705800-150708400	Enhancers	Fetal Lung	lung
11	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:150706000-150707400	Enhancers	Fetal Intestine Large	intestine
14	chr7:150706000-150707400	Weak transcription	Fetal Kidney	kidney
15	chr7:150706000-150707600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:150706000-150707600	Weak transcription	Brain Anterior Caudate	brain
17	chr7:150706000-150707600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150706000-150707600	Enhancers	Fetal Intestine Small	intestine
19	chr7:150706000-150707600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr7:150706000-150707600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:150706000-150708000	Weak transcription	Gastric	stomach
22	chr7:150706000-150708200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr7:150706000-150708200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr7:150706000-150709600	Genic enhancers	Placenta	Placenta
25	chr7:150706000-150709600	Weak transcription	Pancreas	Pancrea
26	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
29	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
30	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:150706200-150707400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:150706200-150707400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:150706200-150707400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:150706200-150707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:150706200-150707600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:150706200-150707600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:150706200-150707600	Enhancers	Spleen	Spleen
39	chr7:150706200-150707600	Weak transcription	NH-A	brain
40	chr7:150706200-150707800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:150706200-150709000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:150706200-150710000	Weak transcription	Brain Substantia Nigra	brain
43	chr7:150706200-150710200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
46	chr7:150706400-150707400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:150706400-150707400	Weak transcription	HUVEC	blood vessel
48	chr7:150706400-150707800	Weak transcription	Primary B cells from cord blood	blood
49	chr7:150706400-150707800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:150706400-150707800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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