Variant report

Variant	rs12764831
Chromosome Location	chr10:96997167-96997168
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	chr10:96989917..96992480-chr10:96995874..96997561,2	MCF-7	breast:
2	chr10:96988601..96990244-chr10:96996425..96998002,2	K562	blood:

Variant related genes	Relation type
ENSG00000234026	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10128123	1.00[JPT][hapmap]
rs10218877	1.00[JPT][hapmap]
rs10509683	1.00[JPT][hapmap]
rs10882568	1.00[JPT][hapmap]
rs10882570	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882571	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11596107	0.84[CHB][hapmap]
rs11598953	1.00[JPT][hapmap]
rs12262534	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12262878	1.00[JPT][hapmap]
rs12764992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16872	1.00[JPT][hapmap]
rs17524438	1.00[JPT][hapmap]
rs2449809	0.96[CEU][hapmap]
rs2478477	1.00[JPT][hapmap]
rs2478478	0.96[CEU][hapmap]
rs2478479	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2478480	0.85[EUR][1000 genomes]
rs489807	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs509736	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs513661	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs519833	0.87[EUR][1000 genomes]
rs589801	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs591157	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs591171	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs592055	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs594448	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs595420	0.86[EUR][1000 genomes]
rs595478	0.86[EUR][1000 genomes]
rs600929	0.84[EUR][1000 genomes]
rs602941	0.85[EUR][1000 genomes]
rs610046	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs610837	0.88[EUR][1000 genomes]
rs611343	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs611371	0.87[EUR][1000 genomes]
rs612490	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs613340	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs614682	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs621299	0.85[EUR][1000 genomes]
rs626415	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs627173	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs627719	0.86[EUR][1000 genomes]
rs628102	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs631107	0.86[EUR][1000 genomes]
rs632361	0.85[EUR][1000 genomes]
rs632979	0.81[EUR][1000 genomes]
rs633345	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs637465	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs637939	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs648695	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs649770	0.85[EUR][1000 genomes]
rs659949	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs660026	0.87[EUR][1000 genomes]
rs664093	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs667499	0.81[EUR][1000 genomes]
rs669360	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs672860	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs685607	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs688706	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs689207	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs695217	1.00[JPT][hapmap]
rs701886	0.87[EUR][1000 genomes]
rs7089303	0.95[CEU][hapmap]
rs7909072	1.00[JPT][hapmap]
rs815250	0.85[EUR][1000 genomes]
rs815259	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96990800-96997400	Weak transcription	Stomach Mucosa	stomach
2	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
3	chr10:96991000-96997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:96991000-96997400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:96991000-96997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:96991000-96999800	Weak transcription	Fetal Lung	lung
7	chr10:96991000-97001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:96991000-97001600	Weak transcription	Thymus	Thymus
9	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:96991000-97006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:96991000-97006600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:96991000-97006600	Weak transcription	Right Atrium	heart
14	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:96991200-97000000	Weak transcription	Fetal Kidney	kidney
18	chr10:96991200-97000200	Weak transcription	Fetal Thymus	thymus
19	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:96991600-96997400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:96991600-97001000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:96992000-97005000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr10:96992000-97005800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:96992200-96997400	Weak transcription	Small Intestine	intestine
25	chr10:96992200-97009000	Strong transcription	Liver	Liver
26	chr10:96992400-96998600	Strong transcription	Fetal Stomach	stomach
27	chr10:96992400-96998800	Strong transcription	Left Ventricle	heart
28	chr10:96992400-96999000	Strong transcription	Adipose Nuclei	Adipose
29	chr10:96992400-97000000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:96992400-97006200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr10:96992600-96998600	Strong transcription	Lung	lung
32	chr10:96992600-97004000	Strong transcription	Fetal Intestine Large	intestine
33	chr10:96993200-96998800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:96994200-96997400	Weak transcription	Pancreas	Pancrea
35	chr10:96994600-96998200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:96994600-96998600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:96994600-96998600	Strong transcription	Colonic Mucosa	Colon
38	chr10:96994800-96998000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:96994800-96998200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:96994800-96998600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:96994800-96998600	Strong transcription	Gastric	stomach
42	chr10:96994800-96998600	Genic enhancers	HMEC	breast
43	chr10:96995200-97002600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr10:96995400-96998000	Genic enhancers	NHLF	lung
45	chr10:96995400-96998600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:96995400-97000000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:96995600-96997400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:96995600-96997600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:96995600-96998000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:96995600-96998000	Genic enhancers	NHEK	skin

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