Variant report

Variant	rs2381828
Chromosome Location	chr8:95417542-95417543
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95417346..95419224-chr8:95485607..95488602,3	MCF-7	breast:
2	chr8:95414969..95418997-chr8:95420056..95423397,3	MCF-7	breast:
3	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:
4	chr8:95416902..95420860-chr8:95447740..95452080,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10102233	0.84[YRI][hapmap]
rs10504937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs12541117	1.00[ASN][1000 genomes]
rs12541176	1.00[ASN][1000 genomes]
rs12542622	1.00[ASN][1000 genomes]
rs12542942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548615	1.00[ASN][1000 genomes]
rs13280849	0.83[YRI][hapmap]
rs13281619	0.86[YRI][hapmap]
rs1598713	0.84[YRI][hapmap]
rs16916769	1.00[ASN][1000 genomes]
rs16916788	0.82[YRI][hapmap]
rs16916798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs16916802	0.88[YRI][hapmap]
rs1872889	0.88[YRI][hapmap]
rs2028429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2046663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046664	0.84[YRI][hapmap]
rs2291439	0.86[YRI][hapmap]
rs28398457	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595703	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703913	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890804	1.00[ASN][1000 genomes]
rs2930958	0.82[YRI][hapmap]
rs3136403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34019009	0.91[ASN][1000 genomes]
rs4734277	1.00[ASN][1000 genomes]
rs4735288	0.84[YRI][hapmap]
rs4735290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59233901	1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	1.00[ASN][1000 genomes]
rs60654408	1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	1.00[ASN][1000 genomes]
rs6991270	1.00[ASN][1000 genomes]
rs6991551	1.00[ASN][1000 genomes]
rs6991746	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	1.00[ASN][1000 genomes]
rs73271911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271915	1.00[ASN][1000 genomes]
rs73271953	1.00[ASN][1000 genomes]
rs73271959	1.00[ASN][1000 genomes]
rs73271964	1.00[ASN][1000 genomes]
rs73271995	1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs7824591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829493	1.00[ASN][1000 genomes]
rs7836446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845278	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
2	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
3	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
7	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
10	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:95393200-95447000	Weak transcription	K562	blood
12	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
13	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:95404000-95418400	Weak transcription	NH-A	brain
16	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:95407800-95418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:95408600-95429000	Weak transcription	HMEC	breast
21	chr8:95409400-95417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:95410600-95419200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:95412000-95419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
27	chr8:95412400-95418600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:95413000-95421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:95415200-95418400	Strong transcription	GM12878-XiMat	blood
31	chr8:95415800-95418000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95416200-95419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:95416200-95429400	Weak transcription	HSMM	muscle
34	chr8:95416400-95417800	Enhancers	HepG2	liver
35	chr8:95416600-95421600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:95417000-95418000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:95417000-95419200	Flanking Active TSS	A549	lung
39	chr8:95417000-95422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:95417000-95422400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:95417200-95419200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:95417200-95419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:95417200-95428800	Weak transcription	Dnd41	blood
44	chr8:95417400-95417600	Enhancers	Osteobl	bone
45	chr8:95417400-95421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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