Variant report

Variant	rs11195393
Chromosome Location	chr10:112740991-112740992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11195357	0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195367	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11195378	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11195384	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11195386	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11195389	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11195392	0.94[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12240492	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12244153	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12245003	0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12248431	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12248632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12248739	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12249521	0.93[ASN][1000 genomes]
rs12249906	0.86[AFR][1000 genomes]
rs12253950	0.86[ASN][1000 genomes]
rs12255335	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12256152	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12258923	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12266042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12267661	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12268160	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12268606	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1327552	1.00[CEU][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13306146	0.84[JPT][hapmap]
rs1341055	0.85[AMR][1000 genomes]
rs1410052	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1538998	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128099	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128102	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128270	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800038	0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs3750621	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3750622	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3763691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4917593	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4918610	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918620	0.90[ASN][1000 genomes]
rs55879225	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56005122	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56302131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56350255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72819772	0.90[ASN][1000 genomes]
rs9804245	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1035422	chr10:112724159-112764594	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1048444	chr10:112724159-112795159	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1036202	chr10:112726834-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1051595	chr10:112730022-112789048	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
3	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
7	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:112712600-112751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:112712600-112755000	Weak transcription	Fetal Thymus	thymus
10	chr10:112712800-112751600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:112719400-112760800	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:112719800-112759200	Weak transcription	Fetal Lung	lung
13	chr10:112723200-112783000	Weak transcription	Small Intestine	intestine
14	chr10:112724600-112748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:112724800-112746600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr10:112724800-112760200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:112726600-112764000	Weak transcription	HUVEC	blood vessel
18	chr10:112727400-112745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:112727400-112764400	Weak transcription	Adipose Nuclei	Adipose
20	chr10:112727600-112748800	Weak transcription	NHDF-Ad	bronchial
21	chr10:112728200-112748400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:112732400-112763800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:112732600-112748400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:112732600-112789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:112732800-112746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr10:112732800-112746200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:112732800-112746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:112732800-112755000	Weak transcription	Fetal Intestine Large	intestine
29	chr10:112732800-112782800	Weak transcription	Esophagus	oesophagus
30	chr10:112732800-112789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:112733000-112741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:112734000-112741400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr10:112736400-112746400	Weak transcription	Fetal Stomach	stomach
34	chr10:112736400-112752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:112737600-112741400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:112737600-112751800	Weak transcription	Brain Substantia Nigra	brain
37	chr10:112738000-112745400	Weak transcription	Pancreas	Pancrea
38	chr10:112738000-112782800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:112738200-112743600	Weak transcription	Fetal Heart	heart
40	chr10:112738200-112784600	Weak transcription	Ovary	ovary
41	chr10:112738400-112779400	Weak transcription	HepG2	liver
42	chr10:112738600-112745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:112738600-112745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:112738600-112748400	Weak transcription	NHLF	lung
45	chr10:112738600-112748800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:112738600-112751600	Weak transcription	HSMMtube	muscle
47	chr10:112738600-112752800	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:112738800-112745200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr10:112739000-112746200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr10:112739000-112751200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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