Variant report

Variant	rs10269969
Chromosome Location	chr7:4682180-4682181
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	CHD2	chr7:4681131-4682403	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:4680551-4682982	HepG2	liver:	n/a	n/a
3	RCOR1	chr7:4681152-4682505	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:4680925-4683335	Raji	blood:	n/a	n/a
5	POLR2A	chr7:4681013-4682628	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:4681411-4682211	GM12891	blood:	n/a	n/a
7	MTA3	chr7:4681780-4682208	GM12878	blood:	n/a	n/a
8	GABPA	chr7:4681297-4682183	SK-N-SH	brain:	n/a	chr7:4682098-4682107 chr7:4681842-4681853 chr7:4681842-4681856 chr7:4681844-4681853 chr7:4681470-4681484 chr7:4681635-4681644 chr7:4681839-4681853 chr7:4681472-4681481 chr7:4681432-4681443 chr7:4681470-4681479 chr7:4681432-4681441 chr7:4681470-4681481 chr7:4681432-4681446 chr7:4681751-4681760 chr7:4681633-4681642
9	POLR2A	chr7:4680959-4682523	PFSK-1	brain:	n/a	n/a
10	E2F6	chr7:4681245-4682262	H1-hESC	embryonic stem cell:	n/a	chr7:4681822-4681831 chr7:4682098-4682107 chr7:4681633-4681642 chr7:4681843-4681852 chr7:4681471-4681480 chr7:4681433-4681442
11	POLR2A	chr7:4680988-4682902	NB4	blood:	n/a	n/a
12	POLR2A	chr7:4681088-4682714	K562	blood:	n/a	n/a
13	POLR2A	chr7:4681084-4682544	Hela-S3	cervix:	n/a	n/a
14	E2F6	chr7:4680992-4682306	A549	lung:	n/a	chr7:4681822-4681831 chr7:4682098-4682107 chr7:4681633-4681642 chr7:4681843-4681852 chr7:4681471-4681480 chr7:4681433-4681442
15	MYC	chr7:4680762-4682598	A549	lung:	n/a	chr7:4681742-4681751 chr7:4681754-4681761 chr7:4681737-4681756 chr7:4681751-4681766 chr7:4681752-4681762 chr7:4681744-4681760 chr7:4681754-4681763 chr7:4681753-4681762 chr7:4681742-4681751 chr7:4682038-4682047 chr7:4681753-4681763 chr7:4681741-4681751 chr7:4681742-4681751 chr7:4681752-4681763
16	MAX	chr7:4681065-4682418	GM12878	blood:	n/a	chr7:4681742-4681751 chr7:4681754-4681761 chr7:4681737-4681756 chr7:4681751-4681766 chr7:4681752-4681762 chr7:4681744-4681760 chr7:4681754-4681763 chr7:4681753-4681762 chr7:4681742-4681751 chr7:4682038-4682047 chr7:4681753-4681763 chr7:4681741-4681751 chr7:4681742-4681751 chr7:4681752-4681763
17	SP1	chr7:4680993-4682415	HCT-116	colon:	n/a	chr7:4681782-4681796 chr7:4681783-4681792
18	POLR2A	chr7:4680986-4682220	HUVEC	blood vessel:	n/a	n/a
19	E2F6	chr7:4681276-4682208	H1-hESC	embryonic stem cell:	n/a	chr7:4681822-4681831 chr7:4682098-4682107 chr7:4681633-4681642 chr7:4681843-4681852 chr7:4681471-4681480 chr7:4681433-4681442
20	CREB1	chr7:4681031-4682205	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:4681124-4682186	Gliobla	brain:	n/a	n/a
22	POLR2A	chr7:4681058-4682193	SK-N-MC	brain:	n/a	n/a
23	NR2F2	chr7:4681185-4682270	K562	blood:	n/a	chr7:4681617-4681632
24	POLR2A	chr7:4680999-4682768	Hela-S3	cervix:	n/a	n/a
25	CTBP2	chr7:4681452-4682207	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUN	chr7:4680955-4683322	K562	blood:	n/a	chr7:4681527-4681541
27	POLR2A	chr7:4681058-4682865	K562	blood:	n/a	n/a
28	POLR2A	chr7:4680749-4682386	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:4681033-4682409	PFSK-1	brain:	n/a	n/a
30	MAZ	chr7:4681086-4682284	K562	blood:	n/a	chr7:4681742-4681751 chr7:4681754-4681761 chr7:4681737-4681756 chr7:4681751-4681766 chr7:4681752-4681762 chr7:4681744-4681760 chr7:4681754-4681763 chr7:4681753-4681762 chr7:4681742-4681751 chr7:4682038-4682047 chr7:4681753-4681763 chr7:4681741-4681751 chr7:4681742-4681751 chr7:4681752-4681763
31	RUNX3	chr7:4681116-4682183	GM12878	blood:	n/a	n/a
32	GTF2F1	chr7:4681112-4682276	K562	blood:	n/a	n/a
33	CTCF	chr7:4680772-4682849	SK-N-SH	brain:	n/a	chr7:4681868-4681881 chr7:4681868-4681881 chr7:4682115-4682128 chr7:4681813-4681826 chr7:4681813-4681826 chr7:4682094-4682104 chr7:4682037-4682050
34	ZMIZ1	chr7:4681100-4682264	K562	blood:	n/a	n/a
35	POLR2A	chr7:4681095-4682196	HUVEC	blood vessel:	n/a	n/a
36	NRF1	chr7:4681173-4682244	Hela-S3	cervix:	n/a	chr7:4682098-4682107 chr7:4681842-4681853 chr7:4681842-4681856 chr7:4681844-4681853 chr7:4681470-4681484 chr7:4681635-4681644 chr7:4681839-4681853 chr7:4681472-4681481 chr7:4681432-4681443 chr7:4681470-4681479 chr7:4681431-4681442 chr7:4681432-4681441 chr7:4681470-4681481 chr7:4681432-4681446 chr7:4681470-4681481 chr7:4681751-4681760 chr7:4681633-4681642
37	MAX	chr7:4681325-4682196	HUVEC	blood vessel:	n/a	chr7:4681742-4681751 chr7:4681754-4681761 chr7:4681737-4681756 chr7:4681751-4681766 chr7:4681752-4681762 chr7:4681744-4681760 chr7:4681754-4681763 chr7:4681753-4681762 chr7:4681742-4681751 chr7:4682038-4682047 chr7:4681753-4681763 chr7:4681741-4681751 chr7:4681742-4681751 chr7:4681752-4681763
38	POLR2A	chr7:4681096-4682250	GM15510	blood:	n/a	n/a
39	HEY1	chr7:4681032-4682195	HepG2	liver:	n/a	chr7:4681763-4681778 chr7:4681728-4681743 chr7:4681166-4681181
40	PML	chr7:4681378-4682180	K562	blood:	n/a	n/a
41	POLR2A	chr7:4681043-4682182	HCT-116	colon:	n/a	n/a
42	POLR2A	chr7:4681023-4682389	HUVEC	blood vessel:	n/a	n/a
43	GABPA	chr7:4681287-4682189	A549	lung:	n/a	chr7:4682098-4682107 chr7:4681842-4681853 chr7:4681842-4681856 chr7:4681844-4681853 chr7:4681470-4681484 chr7:4681635-4681644 chr7:4681839-4681853 chr7:4681472-4681481 chr7:4681432-4681443 chr7:4681470-4681479 chr7:4681432-4681441 chr7:4681470-4681481 chr7:4681432-4681446 chr7:4681751-4681760 chr7:4681633-4681642
44	MTA3	chr7:4680982-4682726	GM12878	blood:	n/a	n/a
45	EP300	chr7:4681163-4682232	SK-N-SH	brain:	n/a	chr7:4681811-4681827 chr7:4681719-4681735 chr7:4681633-4681642 chr7:4681479-4681488
46	POLR2A	chr7:4681028-4682627	HL-60	blood:	n/a	n/a
47	POLR2A	chr7:4681098-4682845	MCF10A-Er-Src	breast:	n/a	n/a
48	RFX5	chr7:4681202-4682501	Hela-S3	cervix:	n/a	n/a
49	TEAD4	chr7:4681126-4682208	K562	blood:	n/a	n/a
50	ZBTB7A	chr7:4680912-4682227	ECC-1	luminal epithelium:	n/a	chr7:4681812-4681821 chr7:4681219-4681230 chr7:4682097-4682106 chr7:4681220-4681231 chr7:4681165-4681174

No.	Distal block	Cell Line	Cell type
1	chr7:4681151..4682694-chr7:4720990..4723283,12	MCF-7	breast:
2	chr7:4676175..4688048-chr7:4716036..4726033,39	K562	blood:
3	chr7:4680569..4682601-chr7:4695869..4697958,2	MCF-7	breast:
4	chr19:18402878..18403778-chr7:4681484..4682433,2	Hela-S3	cervix:
5	chr7:4680311..4683214-chr7:4786565..4789447,2	K562	blood:
6	chr3:126243087..126243670-chr7:4681538..4682362,2	Hela-S3	cervix:
7	chr7:4680339..4683074-chr7:4798002..4800743,2	MCF-7	breast:
8	chr7:4681536..4682262-chr7:100026622..100027381,2	Hela-S3	cervix:
9	chr15:75931823..75932483-chr7:4681484..4682453,2	Hela-S3	cervix:
10	chr7:4680522..4682464-chr7:4783695..4785954,3	MCF-7	breast:
11	chr7:4680155..4682663-chr7:4708926..4711652,3	MCF-7	breast:
12	chr1:113243471..113244007-chr7:4681456..4682284,2	Hela-S3	cervix:
13	chr7:4678301..4684860-chr7:4717509..4724134,59	MCF-7	breast:
14	chr7:4680992..4683334-chr7:4714316..4716015,2	MCF-7	breast:
15	chr7:4679812..4682861-chr7:4709180..4712396,4	MCF-7	breast:
16	chr7:4681207..4682243-chr7:4721198..4722231,4	K562	blood:
17	chr7:4671775..4673318-chr7:4681041..4683341,2	MCF-7	breast:
18	chr11:61734589..61735237-chr7:4681489..4682411,2	Hela-S3	cervix:
19	chr7:4679965..4687518-chr7:4719609..4724212,29	MCF-7	breast:
20	chr7:4681280..4683124-chr7:4771615..4774090,2	MCF-7	breast:
21	chr7:4680140..4683332-chr7:4718368..4725896,21	K562	blood:
22	chr7:4681363..4683296-chr7:4815172..4817024,2	K562	blood:
23	chr14:35872947..35873489-chr7:4681788..4682346,2	Hela-S3	cervix:
24	chr7:4680155..4683221-chr7:4751586..4755300,3	MCF-7	breast:
25	chr16:3073779..3074565-chr7:4681516..4682433,2	Hela-S3	cervix:
26	chr7:4681071..4682191-chr7:4721515..4722280,7	HCT-116	colon:
27	chr7:4676882..4679342-chr7:4679725..4682427,2	K562	blood:
28	chr7:4670202..4672786-chr7:4680198..4682391,2	K562	blood:
29	chr16:4010264..4010918-chr7:4681512..4682348,2	Hela-S3	cervix:
30	chr7:4681410..4682390-chr8:43093269..43093900,2	MCF-7	breast:
31	chr22:24372676..24373670-chr7:4681839..4682437,2	Hela-S3	cervix:

Variant related genes	Relation type
FOXK1	TF binding region
ENSG00000103145	Chromatin interaction
ENSG00000235231	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000180767	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000164916	Chromatin interaction
ENSG00000131652	Chromatin interaction
ENSG00000167996	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10271408	1.00[AFR][1000 genomes]
rs28415414	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887374	chr7:4469845-4691867	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1031077	chr7:4548603-4688343	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv2758101	chr7:4592615-4746651	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2759503	chr7:4592615-4746651	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4680800-4682200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:4680800-4682200	Active TSS	Brain Angular Gyrus	brain
3	chr7:4680800-4682200	Active TSS	Brain Hippocampus Middle	brain
4	chr7:4680800-4682400	Active TSS	Brain Anterior Caudate	brain
5	chr7:4680800-4682400	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:4680800-4682400	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:4680800-4682600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:4681000-4682200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:4681000-4682200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:4681000-4682200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:4681000-4682200	Active TSS	Primary T cells from cord blood	blood
12	chr7:4681000-4682200	Active TSS	Aorta	Aorta
13	chr7:4681000-4682200	Active TSS	Brain Substantia Nigra	brain
14	chr7:4681000-4682200	Active TSS	Colon Smooth Muscle	Colon
15	chr7:4681000-4682200	Active TSS	Fetal Lung	lung
16	chr7:4681000-4682200	Active TSS	Gastric	stomach
17	chr7:4681000-4682200	Active TSS	Ovary	ovary
18	chr7:4681000-4682200	Flanking Active TSS	Pancreas	Pancrea
19	chr7:4681000-4682200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr7:4681000-4682200	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:4681000-4682200	Active TSS	Thymus	Thymus
22	chr7:4681000-4682200	Active TSS	A549	lung
23	chr7:4681000-4682200	Active TSS	Hela-S3	cervix
24	chr7:4681000-4682200	Active TSS	HSMMtube	muscle
25	chr7:4681000-4682400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:4681000-4682400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:4681000-4682400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:4681000-4682400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:4681000-4682400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:4681000-4682400	Active TSS	Left Ventricle	heart
31	chr7:4681000-4682400	Active TSS	Psoas Muscle	Psoas
32	chr7:4681000-4682400	Active TSS	Right Atrium	heart
33	chr7:4681000-4682400	Active TSS	Right Ventricle	heart
34	chr7:4681000-4682600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:4681000-4682600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:4681000-4682600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:4681000-4682600	Active TSS	HSMM	muscle
38	chr7:4681000-4682600	Active TSS	NHDF-Ad	bronchial
39	chr7:4681000-4682800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:4681000-4682800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:4681000-4682800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:4681000-4682800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:4681200-4682200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:4681200-4682200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:4681200-4682200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:4681200-4682200	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:4681200-4682200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:4681200-4682200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:4681200-4682200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:4681200-4682200	Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links