Variant report

Variant	rs4377960
Chromosome Location	chr8:62619207-62619208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:
2	chr8:62617842..62620715-chr8:62627073..62629435,2	MCF-7	breast:
3	chr8:62570501..62572096-chr8:62617422..62619249,2	K562	blood:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62609192..62610719-chr8:62617736..62619435,2	MCF-7	breast:
6	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:

Variant related genes	Relation type
ENSG00000264408	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10090651	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs10099866	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10108427	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111006	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs11986004	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs16927652	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs16927767	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs17205360	0.84[CEU][hapmap]
rs17793991	0.84[CEU][hapmap]
rs2350917	0.84[CEU][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs2350925	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28409877	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4272369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4446731	0.80[AMR][1000 genomes]
rs4515541	0.84[CEU][hapmap]
rs4633055	0.80[CEU][hapmap];0.81[MKK][hapmap];0.92[YRI][hapmap]
rs6471968	0.84[CEU][hapmap]
rs6549	0.84[CEU][hapmap]
rs6984286	0.84[CEU][hapmap];0.82[GIH][hapmap];0.89[YRI][hapmap]
rs6985520	0.84[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs6990099	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7009611	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs7015043	0.80[JPT][hapmap]
rs7840731	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs7842421	0.84[CEU][hapmap]

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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:62612800-62619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:62612800-62620000	Weak transcription	Liver	Liver
9	chr8:62613000-62619400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:62613000-62620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:62613000-62620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:62613000-62620600	Weak transcription	HSMM	muscle
13	chr8:62613000-62621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:62613000-62621200	Weak transcription	Pancreas	Pancrea
15	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
16	chr8:62613000-62626400	Weak transcription	Lung	lung
17	chr8:62613800-62621200	Weak transcription	Ovary	ovary
18	chr8:62613800-62621200	Weak transcription	Small Intestine	intestine
19	chr8:62613800-62622000	Weak transcription	Fetal Lung	lung
20	chr8:62613800-62622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:62613800-62622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:62613800-62623000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
25	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
26	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
27	chr8:62614000-62620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:62614000-62620000	Weak transcription	NH-A	brain
29	chr8:62614000-62620000	Weak transcription	NHLF	lung
30	chr8:62614000-62620600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:62614000-62621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:62614000-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:62614400-62620600	Weak transcription	Fetal Intestine Large	intestine
35	chr8:62614800-62620000	Weak transcription	Stomach Mucosa	stomach
36	chr8:62616000-62620200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:62616000-62620800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:62616400-62619600	Weak transcription	HepG2	liver
39	chr8:62616400-62620800	Weak transcription	HUVEC	blood vessel
40	chr8:62616400-62621400	Weak transcription	Fetal Stomach	stomach
41	chr8:62616800-62620600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:62617200-62620000	Enhancers	Hela-S3	cervix
43	chr8:62617200-62620200	Weak transcription	Brain Substantia Nigra	brain
44	chr8:62617600-62619400	Weak transcription	Osteobl	bone
45	chr8:62617600-62624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:62617800-62621200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:62618000-62619800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:62618400-62619400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:62618400-62619800	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links