Variant report

Variant	rs1561648
Chromosome Location	chr8:95474437-95474438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95440301..95443033-chr8:95473958..95476686,2	K562	blood:
2	chr8:95468345..95469996-chr8:95473288..95475669,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10087254	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10087503	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10095298	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10102233	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102496	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109060	0.87[ASN][1000 genomes]
rs1011249	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112606	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10216902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504936	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808669	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956911	0.90[ASN][1000 genomes]
rs10956913	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956914	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12375355	0.86[ASN][1000 genomes]
rs12545262	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549544	0.86[ASN][1000 genomes]
rs12674614	0.82[ASN][1000 genomes]
rs12679347	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680029	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680213	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681366	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12681504	0.81[ASN][1000 genomes]
rs12682038	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs12682524	0.86[ASN][1000 genomes]
rs13280849	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13281619	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372048	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1598713	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs16916788	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916796	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16916802	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1872889	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2011246	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2028428	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2043987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2043988	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046664	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2046666	0.85[CEU][hapmap]
rs2165405	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2171440	0.84[ASN][1000 genomes]
rs2197003	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2197004	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2291439	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2381793	0.95[CHB][hapmap]
rs2381886	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445721	0.86[CEU][hapmap]
rs2450558	0.86[CEU][hapmap]
rs2450572	0.86[CEU][hapmap]
rs2470739	0.88[CEU][hapmap]
rs2470740	0.86[CEU][hapmap]
rs2470742	0.86[CEU][hapmap]
rs2515153	0.81[CEU][hapmap]
rs28641679	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919654	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2919655	0.83[ASN][1000 genomes]
rs2919656	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919657	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919658	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919659	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919663	0.86[EUR][1000 genomes]
rs2919664	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919665	0.86[EUR][1000 genomes]
rs2919666	0.86[EUR][1000 genomes]
rs2919667	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919668	0.86[ASN][1000 genomes]
rs2919670	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919672	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919673	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921385	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2921386	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2921387	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2921388	0.83[EUR][1000 genomes]
rs2921389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930956	0.86[ASN][1000 genomes]
rs2930958	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930959	0.86[EUR][1000 genomes]
rs2930961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930962	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930963	0.85[ASN][1000 genomes]
rs2930964	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs2930967	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2930968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930969	0.86[EUR][1000 genomes]
rs2930970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930971	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931631	0.84[ASN][1000 genomes]
rs2931632	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2931633	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2960121	0.84[ASN][1000 genomes]
rs2960122	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019147	0.84[ASN][1000 genomes]
rs3019148	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019149	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3019150	0.85[ASN][1000 genomes]
rs3019154	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019155	0.84[ASN][1000 genomes]
rs3019156	0.84[ASN][1000 genomes]
rs3019277	0.85[ASN][1000 genomes]
rs3019278	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs3019279	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019280	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs3019281	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs3019282	0.85[ASN][1000 genomes]
rs3019284	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098703	0.83[EUR][1000 genomes]
rs3099397	0.83[EUR][1000 genomes]
rs3099398	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs3099401	0.84[EUR][1000 genomes]
rs35889192	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735288	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4735291	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735294	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55963151	0.86[ASN][1000 genomes]
rs56285115	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58826082	0.86[ASN][1000 genomes]
rs66787185	0.87[ASN][1000 genomes]
rs67639046	0.90[ASN][1000 genomes]
rs67808321	0.90[ASN][1000 genomes]
rs6980687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991077	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997115	0.86[ASN][1000 genomes]
rs6999103	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999976	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs716770	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72674819	0.86[ASN][1000 genomes]
rs7825731	0.86[ASN][1000 genomes]
rs7831073	0.85[ASN][1000 genomes]
rs9297939	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs935052	0.88[CEU][hapmap];0.86[EUR][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	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:95449800-95479600	Weak transcription	NH-A	brain
6	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:95450200-95480000	Weak transcription	NHEK	skin
8	chr8:95450400-95479800	Weak transcription	HMEC	breast
9	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
12	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
13	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:95460000-95485000	Weak transcription	HepG2	liver
21	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95467000-95477200	Weak transcription	K562	blood
26	chr8:95468000-95480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:95468000-95485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:95468400-95479800	Weak transcription	Primary T cells from cord blood	blood
29	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:95468800-95476400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:95468800-95477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95468800-95478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:95468800-95479800	Weak transcription	NHDF-Ad	bronchial
34	chr8:95468800-95484800	Weak transcription	Fetal Lung	lung
35	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:95469200-95479800	Weak transcription	Osteobl	bone
38	chr8:95469400-95475200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:95469800-95476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:95470200-95479200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:95470400-95479800	Weak transcription	HSMM	muscle
42	chr8:95470600-95485800	Weak transcription	Fetal Thymus	thymus
43	chr8:95471000-95480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:95471600-95480600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:95472200-95480800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:95472400-95486400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:95472800-95475200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:95472800-95478800	Weak transcription	Fetal Stomach	stomach
49	chr8:95472800-95486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:95473000-95480000	Strong transcription	A549	lung

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