Variant report

Variant	rs493088
Chromosome Location	chr10:96164874-96164875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:96120934..96124258-chr10:96160439..96165957,6	MCF-7	breast:
2	chr10:96119763..96122726-chr10:96163965..96166273,2	MCF-7	breast:
3	chr10:96162530..96165019-chr10:96199067..96201077,2	MCF-7	breast:
4	chr10:96089068..96091434-chr10:96163469..96165336,2	K562	blood:
5	chr10:96162368..96164918-chr10:96174079..96176855,3	K562	blood:
6	chr10:96162320..96165263-chr10:96165537..96170524,5	K562	blood:

Variant related genes	Relation type
ENSG00000173145	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1079504	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10882452	0.84[ASN][1000 genomes]
rs10882454	0.82[EUR][1000 genomes]
rs10882460	0.81[EUR][1000 genomes]
rs10882463	0.81[EUR][1000 genomes]
rs10882470	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11187937	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11187939	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187944	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11187952	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11187958	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187966	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187973	0.82[EUR][1000 genomes]
rs11187998	0.85[JPT][hapmap]
rs11188005	0.82[EUR][1000 genomes]
rs11188040	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs11527881	0.81[EUR][1000 genomes]
rs12218213	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs12218216	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs12219906	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs12220588	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs12221475	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs12573638	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs12762574	0.81[EUR][1000 genomes]
rs1749352	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1749355	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1749356	0.85[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1889485	0.81[EUR][1000 genomes]
rs1889486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889487	0.81[EUR][1000 genomes]
rs1969815	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2095380	0.80[EUR][1000 genomes]
rs2148553	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2244241	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2265362	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2265364	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2274417	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2860760	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2860821	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2901764	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35774063	0.83[EUR][1000 genomes]
rs4316436	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4351744	0.80[EUR][1000 genomes]
rs4611135	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs479664	0.89[EUR][1000 genomes]
rs4918409	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs4918417	0.84[CEU][hapmap]
rs4918419	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs517784	0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs522111	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs541704	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs542540	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs556055	0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56020662	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs576517	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs581165	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6583944	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs692872	0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7073639	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7086462	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7087472	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7089094	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7393251	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7906968	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs7913343	0.88[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7921721	0.80[EUR][1000 genomes]
rs912466	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9420641	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs945123	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs955694	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]
rs9633699	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription 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 target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3398177	chr10:96139011-96169931	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3411992	chr10:96139011-96172041	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv1801044	chr10:96162545-96170593	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1815355	chr10:96162545-96189900	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1817623	chr10:96162545-96189900	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96161600-96165000	Active TSS	Brain Anterior Caudate	brain
2	chr10:96161600-96165000	Active TSS	Fetal Intestine Large	intestine
3	chr10:96161600-96165400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:96161800-96165000	Active TSS	Brain Hippocampus Middle	brain
5	chr10:96161800-96165000	Active TSS	HMEC	breast
6	chr10:96161800-96165200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr10:96161800-96165200	Active TSS	Brain Cingulate Gyrus	brain
8	chr10:96161800-96165200	Active TSS	GM12878-XiMat	blood
9	chr10:96161800-96165200	Active TSS	Osteobl	bone
10	chr10:96161800-96165400	Active TSS	Brain Angular Gyrus	brain
11	chr10:96161800-96165400	Active TSS	Duodenum Mucosa	Duodenum
12	chr10:96161800-96165400	Active TSS	NHLF	lung
13	chr10:96161800-96166200	Active TSS	Brain Substantia Nigra	brain
14	chr10:96162000-96165200	Active TSS	HSMM	muscle
15	chr10:96162000-96165400	Active TSS	HSMMtube	muscle
16	chr10:96162000-96165400	Active TSS	NHDF-Ad	bronchial
17	chr10:96163400-96165000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:96163800-96165000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr10:96163800-96184400	Weak transcription	Gastric	stomach
20	chr10:96164000-96165000	Enhancers	Fetal Brain Male	brain
21	chr10:96164000-96165400	Enhancers	Fetal Heart	heart
22	chr10:96164000-96165600	Enhancers	Left Ventricle	heart
23	chr10:96164000-96171400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:96164200-96165000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:96164200-96165000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr10:96164200-96165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:96164200-96165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:96164200-96165200	Weak transcription	NH-A	brain
29	chr10:96164200-96165400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:96164200-96165600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:96164200-96165600	Enhancers	Liver	Liver
32	chr10:96164200-96166800	Weak transcription	A549	lung
33	chr10:96164200-96168400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:96164200-96168800	Weak transcription	Small Intestine	intestine
35	chr10:96164200-96172800	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:96164200-96173200	Weak transcription	Ovary	ovary
37	chr10:96164400-96165000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:96164400-96165000	Enhancers	Fetal Muscle Leg	muscle
39	chr10:96164400-96165400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:96164400-96168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:96164600-96165000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:96164600-96165000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:96164600-96165000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:96164600-96165000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:96164600-96165000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr10:96164600-96165000	Enhancers	Rectal Smooth Muscle	rectum
47	chr10:96164600-96165000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr10:96164600-96165000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:96164600-96165200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:96164600-96165200	Weak transcription	Fetal Brain Female	brain

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