Variant report

Variant	rs515622
Chromosome Location	chr8:102504974-102504975
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr8:102504121-102505124	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr8:102504400-102505243	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr8:102503778-102505103	H1-hESC	embryonic stem cell:	n/a	chr8:102504017-102504026
4	MAX	chr8:102504236-102505086	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr8:102504484-102505106	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr8:102503452-102505487	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:102502831-102507688	MCF-7	breast:	n/a	n/a
8	YY1	chr8:102504129-102505121	HCT-116	colon:	n/a	n/a
9	MAX	chr8:102503808-102506777	MCF-7	breast:	n/a	chr8:102506109-102506119
10	CHD1	chr8:102503893-102505526	H1-hESC	embryonic stem cell:	n/a	n/a
11	PML	chr8:102503675-102506920	MCF-7	breast:	n/a	n/a
12	TAF7	chr8:102504293-102505017	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr8:102504226-102505000	H1-hESC	embryonic stem cell:	n/a	chr8:102504601-102504610
14	CTBP2	chr8:102503748-102505001	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:102504017-102506789	HCT-116	colon:	n/a	n/a
16	SIN3AK20	chr8:102504035-102505002	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr8:102503510-102505372	MCF-7	breast:	n/a	n/a
18	TAF1	chr8:102503770-102505122	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr8:102504107-102505204	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr8:102504880-102505030	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:102503703-102506870	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr8:102504843-102505042	MCF-7	breast:	n/a	n/a
23	TCF12	chr8:102504069-102505426	ECC-1	luminal epithelium:	n/a	n/a
24	HDAC2	chr8:102503502-102507679	MCF-7	breast:	n/a	chr8:102505260-102505274
25	MYC	chr8:102504382-102505090	MCF-7	breast:	n/a	n/a
26	MAX	chr8:102503816-102505124	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:102504129-102506801	HCT-116	colon:	n/a	n/a
28	GATA3	chr8:102503623-102507890	MCF-7	breast:	n/a	n/a
29	FOXA1	chr8:102504160-102505088	T-47D	breast:	n/a	n/a
30	TCF7L2	chr8:102504420-102506551	HCT-116	colon:	n/a	n/a
31	TCF12	chr8:102504092-102506600	ECC-1	luminal epithelium:	n/a	n/a
32	EGR1	chr8:102504162-102506494	HCT-116	colon:	n/a	chr8:102505683-102505696 chr8:102505682-102505697 chr8:102505715-102505725 chr8:102505684-102505694 chr8:102505683-102505696 chr8:102505684-102505695 chr8:102505684-102505693 chr8:102505682-102505696 chr8:102505535-102505550 chr8:102505683-102505693 chr8:102505683-102505696 chr8:102505684-102505694
33	NFIC	chr8:102504514-102505216	ECC-1	luminal epithelium:	n/a	n/a
34	FOXM1	chr8:102504505-102505313	ECC-1	luminal epithelium:	n/a	n/a
35	SP1	chr8:102504304-102505139	H1-hESC	embryonic stem cell:	n/a	chr8:102504600-102504621
36	TAF1	chr8:102503726-102506926	MCF-7	breast:	n/a	n/a
37	PML	chr8:102503530-102507277	MCF-7	breast:	n/a	n/a
38	MAX	chr8:102503748-102505248	ECC-1	luminal epithelium:	n/a	n/a
39	ELF1	chr8:102503851-102507181	MCF-7	breast:	n/a	chr8:102506103-102506115
40	YY1	chr8:102504147-102505205	ECC-1	luminal epithelium:	n/a	n/a
41	HA-E2F1	chr8:102503856-102506832	MCF-7	breast:	n/a	chr8:102505795-102505805 chr8:102505964-102505976 chr8:102506157-102506166 chr8:102505033-102505043 chr8:102506159-102506171 chr8:102504601-102504610 chr8:102505821-102505830
42	USF1	chr8:102504664-102505154	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr8:102503712-102506756	H1-hESC	embryonic stem cell:	n/a	n/a
44	TBP	chr8:102503615-102506755	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAFK	chr8:102504807-102505010	H1-hESC	embryonic stem cell:	n/a	n/a
46	SRF	chr8:102504141-102505232	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr8:102503644-102505433	MCF-7	breast:	n/a	chr8:102504136-102504145 chr8:102504602-102504610 chr8:102504136-102504145 chr8:102504136-102504145 chr8:102504135-102504146 chr8:102504134-102504147
48	MAX	chr8:102503652-102507680	MCF-7	breast:	n/a	chr8:102506109-102506119 chr8:102507319-102507328
49	RAD21	chr8:102502828-102505295	MCF-7	breast:	n/a	n/a
50	NFIC	chr8:102504410-102505286	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56735225..56737642-chr8:102504605..102506611,2	MCF-7	breast:
2	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
3	chr10:104209810..104210423-chr8:102504568..102505161,2	HCT-116	colon:
4	chr8:102503375..102506182-chrX:131157229..131158900,2	MCF-7	breast:
5	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
6	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
7	chr8:102402569..102408629-chr8:102502856..102508138,9	MCF-7	breast:
8	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
9	chr8:102504625..102506471-chr8:103250763..103252753,4	MCF-7	breast:
10	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
11	chr20:34251761..34253653-chr8:102503473..102505454,2	MCF-7	breast:
12	chr14:77769535..77771801-chr8:102503565..102505939,2	MCF-7	breast:
13	chr8:101963437..101966002-chr8:102504063..102506210,2	MCF-7	breast:
14	chr17:59476316..59479258-chr8:102504663..102506400,2	MCF-7	breast:
15	chr8:82753265..82755662-chr8:102503401..102505345,2	MCF-7	breast:
16	chr8:101959027..101961096-chr8:102504043..102506197,2	MCF-7	breast:
17	chr20:45979730..45981656-chr8:102504612..102506594,2	MCF-7	breast:
18	chr20:45947356..45949736-chr8:102504885..102507251,2	MCF-7	breast:
19	chr20:48768935..48770631-chr8:102504852..102507478,2	MCF-7	breast:
20	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:
21	chr8:102504268..102505953-chr9:132256478..132258911,2	MCF-7	breast:
22	chr8:102504533..102507820-chr9:114657351..114661372,3	MCF-7	breast:
23	chr8:101962743..101965419-chr8:102503766..102506202,3	MCF-7	breast:
24	chr8:102504608..102506883-chr8:103249593..103253284,4	MCF-7	breast:
25	chr16:3069114..3071201-chr8:102504770..102506304,2	MCF-7	breast:
26	chr3:49057353..49060318-chr8:102504216..102506462,2	MCF-7	breast:
27	chr17:64960060..64962570-chr8:102504646..102506203,2	MCF-7	breast:
28	chr6:30583199..30584838-chr8:102502363..102505193,2	MCF-7	breast:
29	chr17:58676308..58677992-chr8:102503375..102505065,2	MCF-7	breast:
30	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	TF binding region
GRHL2	TF binding region
ENSG00000207605	Chromatin interaction
ENSG00000124208	Chromatin interaction
ENSG00000006327	Chromatin interaction
ENSG00000240849	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000271560	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000244462	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000184697	Chromatin interaction
ENSG00000148154	Chromatin interaction
ENSG00000204054	Chromatin interaction
ENSG00000269609	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000104497	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000134602	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000214078	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2847730	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475304	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs509390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs514588	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs523244	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs534285	1.00[JPT][hapmap]
rs537658	0.82[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs541154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs541226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560043	1.00[JPT][hapmap]
rs561626	1.00[JPT][hapmap]
rs568894	1.00[JPT][hapmap]
rs589919	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs624013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs680890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs687399	1.00[AFR][1000 genomes]
rs687909	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891229	chr8:102490380-102511670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv3356273	chr8:102504601-102507149	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102497400-102506000	Weak transcription	Ovary	ovary
2	chr8:102501200-102507600	Active TSS	Placenta Amnion	Placenta Amnion
3	chr8:102503000-102506800	Active TSS	Esophagus	oesophagus
4	chr8:102503400-102507400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:102503400-102507600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:102503600-102505000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:102503600-102505600	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr8:102503600-102507200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:102503600-102507200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:102503600-102507200	Bivalent Enhancer	Fetal Brain Male	brain
11	chr8:102503600-102507400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:102503600-102507600	Active TSS	Pancreas	Pancrea
13	chr8:102503800-102505200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
14	chr8:102503800-102505200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr8:102503800-102506000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr8:102503800-102506200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr8:102503800-102506400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:102503800-102506800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:102503800-102506800	Active TSS	Gastric	stomach
20	chr8:102503800-102507000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:102503800-102507000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:102503800-102507000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:102503800-102507200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:102503800-102507200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr8:102503800-102507200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:102503800-102507400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:102503800-102507400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:102503800-102507600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:102504000-102505000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr8:102504000-102505000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr8:102504000-102505200	Bivalent Enhancer	Fetal Heart	heart
32	chr8:102504000-102505400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:102504000-102505400	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr8:102504000-102506000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr8:102504000-102506000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr8:102504000-102506800	Bivalent/Poised TSS	Stomach Mucosa	stomach
37	chr8:102504000-102506800	Bivalent/Poised TSS	Thymus	Thymus
38	chr8:102504000-102507000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:102504000-102507800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:102504200-102505000	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr8:102504200-102505200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr8:102504200-102505400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:102504200-102505400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:102504200-102505400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
45	chr8:102504200-102505600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr8:102504200-102505800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr8:102504200-102506600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:102504200-102506600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr8:102504200-102506800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr8:102504200-102506800	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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