Variant report

Variant	rs6985674
Chromosome Location	chr8:19539732-19539733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19536477..19540083-chr8:19612902..19617470,5	MCF-7	breast:
2	chr8:19535486..19538060-chr8:19539195..19541920,3	K562	blood:
3	chr8:19535666..19538060-chr8:19539355..19541920,2	K562	blood:
4	chr8:19535157..19537582-chr8:19537640..19539899,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction
ENSG00000253270	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10087018	0.99[EUR][1000 genomes]
rs11990161	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12543757	1.00[CEU][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes]
rs17481235	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs17481249	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1994789	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1994790	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1994791	0.84[CHB][hapmap]
rs28680503	0.85[AMR][1000 genomes]
rs34674826	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35486444	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735955	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4921665	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4921666	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4921668	0.95[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922086	0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4922087	0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4922088	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4990627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923765	0.89[EUR][1000 genomes]
rs9987105	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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 target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890628	chr8:19527536-19540966	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv465602	chr8:19536015-19555398	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv610757	chr8:19536015-19555398	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv465603	chr8:19537084-19555398	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv465604	chr8:19537084-19555398	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv465606	chr8:19537084-19555398	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv465607	chr8:19537084-19555398	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv470203	chr8:19537084-19555398	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv610758	chr8:19537084-19555398	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6985674	ChGn	cis	multi-tissue	Pritchard

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19523800-19540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:19528600-19540200	Weak transcription	Spleen	Spleen
3	chr8:19536200-19540800	Enhancers	Pancreas	Pancrea
4	chr8:19536400-19543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:19537400-19540200	Enhancers	Hela-S3	cervix
6	chr8:19537600-19540200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:19537600-19541000	Genic enhancers	A549	lung
8	chr8:19538000-19540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:19538400-19539800	Enhancers	Placenta	Placenta
10	chr8:19538400-19539800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:19538400-19540000	Enhancers	Primary B cells from cord blood	blood
12	chr8:19538400-19541200	Enhancers	Fetal Heart	heart
13	chr8:19538400-19541400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:19538600-19539800	Enhancers	Left Ventricle	heart
15	chr8:19538600-19540000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:19538600-19540000	Enhancers	Right Atrium	heart
17	chr8:19538600-19540600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:19538600-19541000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:19538800-19540400	Enhancers	Esophagus	oesophagus
20	chr8:19538800-19540600	Enhancers	Fetal Thymus	thymus
21	chr8:19538800-19540600	Enhancers	Gastric	stomach
22	chr8:19538800-19540800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:19538800-19540800	Enhancers	Lung	lung
24	chr8:19538800-19541000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:19538800-19541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:19538800-19541000	Enhancers	HMEC	breast
27	chr8:19539000-19539800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:19539000-19539800	Enhancers	NH-A	brain
29	chr8:19539000-19540400	Enhancers	Stomach Mucosa	stomach
30	chr8:19539000-19540600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:19539000-19540600	Enhancers	Thymus	Thymus
32	chr8:19539000-19540800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr8:19539000-19540800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:19539000-19540800	Enhancers	Ovary	ovary
35	chr8:19539000-19541000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:19539000-19541600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:19539200-19539800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:19539200-19539800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:19539200-19539800	Enhancers	Fetal Lung	lung
40	chr8:19539200-19540000	Enhancers	Primary T cells from cord blood	blood
41	chr8:19539200-19540400	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr8:19539200-19540400	Enhancers	Aorta	Aorta
43	chr8:19539200-19540400	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:19539200-19540600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:19539200-19540600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:19539200-19540600	Enhancers	NHLF	lung
47	chr8:19539200-19541000	Enhancers	Fetal Brain Female	brain
48	chr8:19539200-19542200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:19539400-19539800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:19539400-19540200	Flanking Active TSS	Osteobl	bone

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