Variant report

Variant	rs10075370
Chromosome Location	chr5:107687764-107687765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107687278..107689541-chr5:107694592..107696182,2	K562	blood:
2	chr5:107687021..107688771-chr5:107717411..107719935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10040007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10045002	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10055322	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10057896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061049	1.00[CHB][hapmap]
rs10065168	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10070927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10071499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10077527	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10477887	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10477896	1.00[CHB][hapmap]
rs12187433	1.00[CHB][hapmap]
rs158168	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs158169	0.86[EUR][1000 genomes]
rs158171	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs171756	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs17454114	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1833562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076794	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2112303	1.00[CHB][hapmap]
rs2122156	0.86[EUR][1000 genomes]
rs286740	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs286742	1.00[CHB][hapmap]
rs286763	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs286770	0.89[EUR][1000 genomes]
rs286778	1.00[CHB][hapmap]
rs2909791	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2910791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2922417	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922418	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922421	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922422	0.94[EUR][1000 genomes]
rs2922425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2922431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2922432	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2941698	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2966788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2966793	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966796	0.94[EUR][1000 genomes]
rs2966800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966802	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966804	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966813	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966814	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966816	0.83[EUR][1000 genomes]
rs2966818	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966822	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966827	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966828	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2966829	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966831	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966833	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34386	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs34387	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs34425	1.00[CHB][hapmap]
rs40065	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs40066	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs41130	0.89[EUR][1000 genomes]
rs4395619	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs466018	0.89[EUR][1000 genomes]
rs4957551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5005385	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62359548	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6863456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6881879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7706429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7714342	1.00[CHB][hapmap]
rs7727051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7733311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7736039	0.81[EUR][1000 genomes]
rs9326727	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs9885545	0.85[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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv882687	chr5:107595383-107695558	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
2	chr5:107639800-107697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
5	chr5:107658600-107709200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:107659400-107700000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:107661800-107696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:107663800-107709400	Weak transcription	Primary T cells from cord blood	blood
9	chr5:107667600-107709200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:107668600-107706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:107668800-107699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:107669200-107708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:107669400-107700400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:107670000-107702400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:107675000-107709200	Weak transcription	Fetal Thymus	thymus
16	chr5:107675800-107700000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:107676000-107696200	Weak transcription	Fetal Lung	lung
18	chr5:107676800-107702400	Weak transcription	Fetal Kidney	kidney
19	chr5:107677400-107700800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:107677800-107700400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:107677800-107709200	Weak transcription	Ovary	ovary
22	chr5:107678400-107699800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:107679200-107688600	Weak transcription	Primary B cells from cord blood	blood
24	chr5:107679200-107706800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:107679600-107699800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:107679800-107696800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:107679800-107705600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:107680000-107706800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:107680400-107707600	Weak transcription	Fetal Intestine Large	intestine
30	chr5:107680600-107690000	Weak transcription	Fetal Intestine Small	intestine
31	chr5:107680800-107697400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:107681400-107693600	Weak transcription	GM12878-XiMat	blood
33	chr5:107681600-107699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:107682000-107703600	Weak transcription	Dnd41	blood
35	chr5:107683000-107703600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:107683200-107687800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:107683400-107697200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:107684400-107699800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:107684400-107702600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:107686200-107701000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:107687200-107688000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:107687400-107688000	Enhancers	Liver	Liver
43	chr5:107687600-107687800	Enhancers	Sigmoid Colon	Sigmoid Colon

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