Variant report

Variant	rs1253392
Chromosome Location	chr10:99008232-99008233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99002077..99004785-chr10:99007316..99010027,2	K562	blood:
2	chr10:99002077..99004456-chr10:99007278..99008816,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10748695	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10748696	0.82[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap]
rs10882878	0.88[ASN][1000 genomes]
rs11189082	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1147599	0.83[AFR][1000 genomes]
rs12265444	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1253388	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1253391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253393	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1253398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs1253402	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs1253403	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs1253406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1253428	0.86[ASN][1000 genomes]
rs2244070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs2247283	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs2250134	1.00[YRI][hapmap]
rs2253301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs2265598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2487272	0.81[AFR][1000 genomes]
rs2487273	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701818	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs701820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs701822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs7092389	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7905604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs793523	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs793526	1.00[YRI][hapmap]
rs793527	0.86[AFR][1000 genomes]
rs793528	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs793529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3361060	chr10:98939103-99025202	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv1797410	chr10:98983785-99041740	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1040903	chr10:98986382-99047475	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98973800-99019000	Weak transcription	HepG2	liver
2	chr10:98976000-99011400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:98977200-99023800	Weak transcription	Colonic Mucosa	Colon
4	chr10:98977400-99027000	Weak transcription	Right Ventricle	heart
5	chr10:98978600-99019000	Weak transcription	HSMMtube	muscle
6	chr10:98978600-99030400	Weak transcription	NH-A	brain
7	chr10:98978600-99037400	Weak transcription	HSMM	muscle
8	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:98979000-99027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:98981000-99018200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:98981400-99025400	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:98982600-99020800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:98983000-99022000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:98983000-99027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:98983000-99027400	Weak transcription	Psoas Muscle	Psoas
16	chr10:98983000-99037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:98983200-99027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:98984600-99037600	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:98985400-99015800	Weak transcription	HUVEC	blood vessel
20	chr10:98985400-99018800	Weak transcription	Stomach Mucosa	stomach
21	chr10:98986800-99021200	Weak transcription	Hela-S3	cervix
22	chr10:98986800-99022600	Weak transcription	Spleen	Spleen
23	chr10:98986800-99027000	Weak transcription	Brain Angular Gyrus	brain
24	chr10:98986800-99027800	Weak transcription	Gastric	stomach
25	chr10:98987200-99010600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:98987200-99029200	Weak transcription	HMEC	breast
27	chr10:98987200-99051200	Weak transcription	Pancreas	Pancrea
28	chr10:98988800-99027000	Weak transcription	Small Intestine	intestine
29	chr10:98988800-99028200	Weak transcription	Esophagus	oesophagus
30	chr10:98989000-99034600	Weak transcription	Aorta	Aorta
31	chr10:98989200-99014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:98989200-99016400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:98989200-99029200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:98989400-99014600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:98989400-99014600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:98989600-99014600	Weak transcription	Fetal Kidney	kidney
37	chr10:98989600-99027200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:98989600-99038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:98989800-99014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:98989800-99015800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:98989800-99029800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:98990000-99034600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:98990200-99014600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:98990400-99024400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:98991400-99014600	Weak transcription	Left Ventricle	heart
46	chr10:98994600-99039000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:98994800-99009600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr10:98995000-99009000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:98997600-99020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:98998200-99014600	Weak transcription	Lung	lung

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