Variant report

Variant	rs7685970
Chromosome Location	chr4:175203977-175203978
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	EP300	chr4:175203614-175205762	GM12878	blood:	n/a	chr4:175203776-175203790 chr4:175204820-175204827 chr4:175204764-175204780
2	EP300	chr4:175203916-175206360	SK-N-SH	brain:	n/a	chr4:175204820-175204827 chr4:175204764-175204780
3	POLR2A	chr4:175203976-175205495	HUVEC	blood vessel:	n/a	n/a
4	REST	chr4:175203945-175205770	H1-neurons	neurons:	n/a	chr4:175205341-175205361
5	POLR2A	chr4:175203963-175205787	K562	blood:	n/a	n/a
6	PML	chr4:175203957-175205774	K562	blood:	n/a	n/a
7	MXI1	chr4:175203975-175205776	GM12878	blood:	n/a	n/a
8	GABPA	chr4:175203975-175205678	MCF-7	breast:	n/a	chr4:175205154-175205168
9	ARID3A	chr4:175203551-175205192	K562	blood:	n/a	n/a
10	NFYA	chr4:175203971-175205653	K562	blood:	n/a	chr4:175204422-175204436
11	CREB1	chr4:175203954-175205499	GM12878	blood:	n/a	n/a
12	MYBL2	chr4:175203975-175205706	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr4:175203954-175205718	MCF-7	breast:	n/a	n/a
14	POLR2A	chr4:175203974-175205899	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:175203891-175208621	K562	blood:	n/a	n/a
16	CBX3	chr4:175203963-175205398	K562	blood:	n/a	n/a
17	CUX1	chr4:175203960-175206249	K562	blood:	n/a	n/a
18	JUN	chr4:175203882-175205967	K562	blood:	n/a	n/a
19	HCFC1	chr4:175203961-175206086	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:175203930-175205419	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:175203658-175206460	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:175203754-175205801	Hela-S3	cervix:	n/a	n/a
23	FOXM1	chr4:175203977-175205329	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:175203148-175206259	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr4:175203975-175205952	U87	brain:	n/a	n/a
26	BCLAF1	chr4:175203881-175204440	K562	blood:	n/a	n/a
27	SP1	chr4:175203921-175205656	HCT-116	colon:	n/a	chr4:175204354-175204368 chr4:175204604-175204615 chr4:175204605-175204614 chr4:175204414-175204435
28	POLR2A	chr4:175203750-175206079	PBDE	blood:	n/a	n/a
29	POLR2A	chr4:175203682-175206344	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:175201466..175204098-chr4:175240301..175242969,3	K562	blood:
2	chr4:175197802..175199409-chr4:175202046..175204752,2	MCF-7	breast:
3	chr4:175203637..175205285-chr4:175218500..175220643,2	K562	blood:

Variant related genes	Relation type
CEP44	TF binding region
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046702	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1050092	1.00[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17060434	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060436	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17060459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17358230	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4695918	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs4695920	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs62335800	0.86[AFR][1000 genomes]
rs72993311	0.92[ASN][1000 genomes]
rs72993312	0.83[ASN][1000 genomes]
rs72993314	0.92[ASN][1000 genomes]
rs72993320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665095	0.88[YRI][hapmap]
rs7678305	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs7699942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
2	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
3	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:175184400-175204000	Weak transcription	Left Ventricle	heart
5	chr4:175188600-175204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:175190200-175204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:175199200-175204000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr4:175200400-175204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:175201400-175204000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:175201800-175204000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:175201800-175204000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:175201800-175204000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:175202000-175207400	Active TSS	K562	blood
14	chr4:175202200-175204000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:175202200-175204200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:175202400-175206000	Active TSS	Stomach Smooth Muscle	stomach
17	chr4:175202400-175206000	Active TSS	GM12878-XiMat	blood
18	chr4:175202400-175206000	Active TSS	Hela-S3	cervix
19	chr4:175202600-175204000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:175202800-175204000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:175202800-175204000	Weak transcription	Colonic Mucosa	Colon
22	chr4:175202800-175204000	Weak transcription	Psoas Muscle	Psoas
23	chr4:175202800-175204000	Weak transcription	Right Ventricle	heart
24	chr4:175202800-175204200	Weak transcription	Gastric	stomach
25	chr4:175202800-175204200	Weak transcription	Lung	lung
26	chr4:175202800-175204200	Weak transcription	Pancreas	Pancrea
27	chr4:175202800-175206400	Active TSS	NHLF	lung
28	chr4:175203000-175204200	Weak transcription	Spleen	Spleen
29	chr4:175203000-175206400	Active TSS	NHDF-Ad	bronchial
30	chr4:175203200-175204000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:175203200-175204000	Flanking Active TSS	Osteobl	bone
32	chr4:175203200-175206200	Active TSS	HMEC	breast
33	chr4:175203400-175204000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr4:175203400-175204000	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:175203400-175204000	Enhancers	Brain Substantia Nigra	brain
36	chr4:175203400-175205600	Active TSS	Brain Hippocampus Middle	brain
37	chr4:175203400-175205600	Active TSS	Thymus	Thymus
38	chr4:175203400-175205800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:175203400-175205800	Active TSS	Fetal Brain Female	brain
40	chr4:175203400-175206000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:175203400-175206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:175203400-175206200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:175203400-175206400	Active TSS	Right Atrium	heart
44	chr4:175203400-175206400	Active TSS	A549	lung
45	chr4:175203400-175207000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:175203600-175204000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:175203600-175204000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:175203600-175204000	Flanking Active TSS	NH-A	brain
49	chr4:175203600-175204200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr4:175203600-175204200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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