Variant report

Variant	rs1016651
Chromosome Location	chr10:5326686-5326687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5189042..5190566-chr10:5324451..5326870,2	MCF-7	breast:
2	chr10:5314790..5316685-chr10:5325493..5327295,2	K562	blood:
3	chr10:5325782..5327303-chr10:5331354..5334117,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1016653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1107822	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17155745	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931669	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2095368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2104994	1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[ASN][1000 genomes]
rs2104998	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2151897	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2398234	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4266974	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7084713	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7087937	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs7088094	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7090114	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7897362	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7911824	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7921115	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9423397	0.80[ASN][1000 genomes]
rs9423398	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9423582	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9423583	0.94[ASN][1000 genomes]
rs9423584	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5324200-5326800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:5324400-5327400	Enhancers	Primary hematopoietic stem cells	blood
3	chr10:5324600-5326800	Enhancers	Fetal Thymus	thymus
4	chr10:5325000-5327000	Flanking Active TSS	A549	lung
5	chr10:5325200-5326800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr10:5325200-5326800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr10:5325200-5326800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr10:5325200-5326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:5325200-5326800	Enhancers	Adipose Nuclei	Adipose
10	chr10:5325200-5327000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:5325200-5327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:5325200-5327600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr10:5325400-5326800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:5325400-5326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr10:5325400-5326800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr10:5325400-5326800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:5325400-5327000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:5325400-5327000	Enhancers	Primary B cells from cord blood	blood
19	chr10:5325400-5327000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:5325400-5327000	Enhancers	Placenta	Placenta
21	chr10:5325400-5327000	Enhancers	NHEK	skin
22	chr10:5325400-5327200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:5325400-5327400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr10:5325600-5326800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:5325600-5327000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr10:5325600-5328000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:5325800-5326800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:5325800-5326800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr10:5325800-5327000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:5325800-5327000	Enhancers	Osteobl	bone
31	chr10:5325800-5327200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:5325800-5328000	Enhancers	HUVEC	blood vessel
33	chr10:5326000-5326800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:5326000-5333600	Weak transcription	Esophagus	oesophagus
35	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr10:5326200-5326800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:5326200-5326800	Enhancers	Dnd41	blood
38	chr10:5326200-5326800	Enhancers	NH-A	brain
39	chr10:5326200-5327000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:5326200-5327000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:5326200-5327200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:5326400-5326800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:5326600-5326800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:5326600-5326800	Flanking Active TSS	K562	blood
45	chr10:5326600-5326800	Weak transcription	NHLF	lung
46	chr10:5326600-5327000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:5326600-5327200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr10:5326600-5332400	Weak transcription	NHDF-Ad	bronchial
49	chr10:5326600-5333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:5326600-5333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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