Variant report

Variant	rs8008020
Chromosome Location	chr14:104355883-104355884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
2	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
3	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
4	chr14:104336626..104338595-chr14:104355620..104357453,2	MCF-7	breast:
5	chr14:104313013..104317291-chr14:104352199..104356564,5	MCF-7	breast:
6	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
7	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10132641	0.87[ASN][1000 genomes]
rs10133399	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10135198	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10135270	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139856	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150898	0.84[EUR][1000 genomes]
rs10438242	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10438243	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10438244	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11160769	0.94[ASN][1000 genomes]
rs11160770	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11160771	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs11160772	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs12879686	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2019064	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35551424	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35924317	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144027	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4900601	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55696130	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55924227	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56087200	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56126771	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56206644	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6576010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66473563	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67727470	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71417884	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71417885	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72712857	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761985	0.82[EUR][1000 genomes]
rs8015761	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs881056	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs911338	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS 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	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv9174	chr14:104352172-104362943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
5	chr14:104353000-104357200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:104353200-104357600	Enhancers	Lung	lung
7	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
8	chr14:104353400-104356400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:104353400-104357800	Enhancers	Esophagus	oesophagus
10	chr14:104353400-104357800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr14:104353400-104358000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:104353600-104356200	Weak transcription	Fetal Lung	lung
13	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:104353800-104356000	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:104353800-104356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:104354600-104356000	Enhancers	A549	lung
17	chr14:104354600-104356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
19	chr14:104354800-104356200	Weak transcription	NHEK	skin
20	chr14:104354800-104356800	Enhancers	HMEC	breast
21	chr14:104355000-104359000	Enhancers	Spleen	Spleen
22	chr14:104355400-104356000	Enhancers	Gastric	stomach
23	chr14:104355600-104356000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:104355600-104356200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:104355600-104356400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:104355600-104356400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:104355600-104356400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr14:104355600-104356400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr14:104355600-104356800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:104355600-104356800	Enhancers	HSMMtube	muscle
31	chr14:104355600-104357400	Enhancers	Placenta	Placenta
32	chr14:104355600-104358200	Enhancers	Adipose Nuclei	Adipose
33	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
34	chr14:104355800-104356000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:104355800-104356000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:104355800-104356000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr14:104355800-104356000	Enhancers	NH-A	brain
38	chr14:104355800-104356200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:104355800-104356200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:104355800-104356200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:104355800-104356200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr14:104355800-104356200	Flanking Active TSS	HSMM	muscle
43	chr14:104355800-104356200	Flanking Active TSS	K562	blood
44	chr14:104355800-104356400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:104355800-104356400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:104355800-104356400	Enhancers	NHLF	lung
47	chr14:104355800-104356400	Flanking Active TSS	Osteobl	bone
48	chr14:104355800-104356600	Enhancers	Ovary	ovary
49	chr14:104355800-104357000	Weak transcription	Small Intestine	intestine
50	chr14:104355800-104357800	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links