Variant report

Variant	rs4501619
Chromosome Location	chr8:121872729-121872730
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
2	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
3	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10086522	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10091815	0.84[EUR][1000 genomes]
rs10094772	0.81[CEU][hapmap]
rs10104069	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109303	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113493	0.86[EUR][1000 genomes]
rs10955992	0.82[EUR][1000 genomes]
rs12544762	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891944	0.84[CEU][hapmap]
rs4871138	0.81[EUR][1000 genomes]
rs4871139	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996149	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000987	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003180	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297630	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv437632	chr8:121861465-121877076	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv612115	chr8:121868551-121873486	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv612116	chr8:121868551-121874346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3479954	chr8:121872275-121874656	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv8305	chr8:121872370-121874672	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3479957	chr8:121872473-121874524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479951	chr8:121872521-121874499	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3479956	chr8:121872526-121874485	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3479950	chr8:121872543-121874466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3479955	chr8:121872591-121874422	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3479958	chr8:121872605-121874420	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv14825	chr8:121872606-121874392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv438079	chr8:121872729-121873345	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv612117	chr8:121872729-121873650	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv612118	chr8:121872729-121873706	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv612119	chr8:121872729-121873821	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv612120	chr8:121872729-121874225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv612121	chr8:121872729-121874284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv612122	chr8:121872729-121874346	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:121868800-121877200	Enhancers	HepG2	liver
3	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:121870000-121873400	Weak transcription	Colonic Mucosa	Colon
6	chr8:121870000-121873400	Weak transcription	Right Ventricle	heart
7	chr8:121870200-121873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121870200-121873400	Weak transcription	Pancreas	Pancrea
9	chr8:121870200-121873600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:121870200-121873800	Weak transcription	Gastric	stomach
11	chr8:121870200-121874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:121870200-121875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:121870400-121873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:121870400-121873200	Weak transcription	Fetal Thymus	thymus
15	chr8:121870400-121873200	Weak transcription	Lung	lung
16	chr8:121870400-121873200	Weak transcription	Spleen	Spleen
17	chr8:121870400-121873200	Weak transcription	HMEC	breast
18	chr8:121870400-121873200	Weak transcription	HUVEC	blood vessel
19	chr8:121870400-121873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:121870400-121873400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:121870400-121873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:121870400-121873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:121870400-121873400	Weak transcription	Adipose Nuclei	Adipose
24	chr8:121870400-121873400	Weak transcription	Liver	Liver
25	chr8:121870400-121873400	Weak transcription	Left Ventricle	heart
26	chr8:121870400-121873400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:121870400-121873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:121870400-121873400	Weak transcription	Thymus	Thymus
29	chr8:121870400-121873400	Weak transcription	Dnd41	blood
30	chr8:121870400-121873400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:121870400-121873600	Weak transcription	Primary B cells from cord blood	blood
32	chr8:121870400-121873600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:121870400-121873600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:121870400-121873800	Weak transcription	Psoas Muscle	Psoas
35	chr8:121870400-121875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:121871000-121873200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:121871000-121873200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:121871000-121873200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:121871000-121873200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:121871000-121873200	Weak transcription	Osteobl	bone
41	chr8:121871000-121873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121871000-121873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:121871000-121873400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:121871000-121873400	Weak transcription	HSMM	muscle
45	chr8:121871000-121874000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:121871200-121873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:121871200-121873400	Weak transcription	HSMMtube	muscle
48	chr8:121871400-121872800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:121871400-121872800	Weak transcription	NHDF-Ad	bronchial
50	chr8:121871400-121873200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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