Variant report

Variant	rs7209920
Chromosome Location	chr17:15904651-15904652
allele	A/G
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	POLR2A	chr17:15904351-15905147	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:15902498-15905180	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:15904414-15904838	GM12891	blood:	n/a	n/a
4	KAP1	chr17:15904539-15905416	K562	blood:	n/a	n/a
5	WRNIP1	chr17:15904216-15904725	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:15902878-15905437	A549	lung:	n/a	n/a
7	POLR2A	chr17:15902379-15905378	IMR90	lung:	n/a	n/a
8	BATF	chr17:15904612-15904828	GM12878	blood:	n/a	chr17:15904756-15904767 chr17:15904700-15904711 chr17:15904723-15904734
9	SETDB1	chr17:15904498-15905386	U2OS	brain:	n/a	n/a
10	FOS	chr17:15904623-15905162	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr17:15902535-15904817	PBDE	blood:	n/a	n/a
12	KAP1	chr17:15904044-15905382	HEK293	kidney:	n/a	n/a
13	ZNF263	chr17:15902538-15905319	HEK293-T-REx	kidney:	n/a	chr17:15902998-15903019
14	POLR2A	chr17:15904493-15904674	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr17:15900787-15905501	A549	lung:	n/a	chr17:15901970-15901988 chr17:15901965-15901986
16	POLR2A	chr17:15904481-15904667	Hela-S3	cervix:	n/a	n/a
17	FOS	chr17:15904622-15904987	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15903246..15906052-chr17:15922157..15923827,2	K562	blood:
2	chr17:15876176..15878196-chr17:15903917..15906445,2	K562	blood:
3	chr17:15903242..15905259-chr17:15927209..15928896,2	K562	blood:
4	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
5	chr17:15902833..15904760-chr6:36560081..36562518,2	MCF-7	breast:
6	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
7	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
8	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:

Variant related genes	Relation type
ZSWIM7	TF binding region
ENSG00000108474	Chromatin interaction
ENSG00000170425	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12103931	1.00[EUR][1000 genomes]
rs2228101	1.00[EUR][1000 genomes]
rs57479165	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182068	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58206797	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58517927	1.00[AFR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314157	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60453431	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636875	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374610	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211406	1.00[EUR][1000 genomes]
rs7213299	1.00[EUR][1000 genomes]
rs73274315	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276056	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276059	1.00[EUR][1000 genomes]
rs73276065	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276071	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276077	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276080	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276085	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278155	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278190	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280233	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280271	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280272	1.00[EUR][1000 genomes]
rs73280300	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280301	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281909	1.00[EUR][1000 genomes]
rs73281922	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	esv10435	chr17:15902625-15904710	Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15902200-15904800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:15902800-15904800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:15903600-15904800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr17:15903600-15904800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr17:15903600-15904800	Flanking Active TSS	Fetal Brain Male	brain
6	chr17:15903600-15904800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr17:15903800-15904800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr17:15903800-15904800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr17:15903800-15904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15903800-15904800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr17:15903800-15904800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr17:15903800-15904800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr17:15903800-15904800	Flanking Active TSS	Osteobl	bone
14	chr17:15903800-15905000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr17:15903800-15905000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr17:15903800-15905000	Transcr. at gene 5' and 3'	Fetal Heart	heart
17	chr17:15903800-15905000	Flanking Active TSS	HUVEC	blood vessel
18	chr17:15903800-15905600	Enhancers	Spleen	Spleen
19	chr17:15903800-15907000	Weak transcription	Aorta	Aorta
20	chr17:15904000-15904800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:15904000-15904800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:15904000-15904800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:15904000-15904800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr17:15904000-15904800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr17:15904000-15904800	Flanking Active TSS	Hela-S3	cervix
26	chr17:15904000-15904800	Transcr. at gene 5' and 3'	K562	blood
27	chr17:15904000-15904800	Flanking Active TSS	NH-A	brain
28	chr17:15904000-15904800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr17:15904000-15905000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:15904000-15905000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:15904000-15905000	Enhancers	Stomach Mucosa	stomach
32	chr17:15904000-15905200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr17:15904000-15905200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:15904000-15910800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:15904200-15904800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:15904200-15904800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr17:15904200-15904800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
38	chr17:15904200-15904800	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
39	chr17:15904200-15904800	Flanking Active TSS	HepG2	liver
40	chr17:15904200-15905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:15904200-15905000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:15904200-15905000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr17:15904200-15905000	Transcr. at gene 5' and 3'	HSMM	muscle
44	chr17:15904200-15905200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
45	chr17:15904200-15905200	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr17:15904200-15905200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:15904200-15905200	Transcr. at gene 5' and 3'	NHEK	skin
48	chr17:15904200-15905400	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr17:15904200-15907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:15904400-15904800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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