Variant report

Variant	rs11598044
Chromosome Location	chr10:38342693-38342694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1007133	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10827844	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011384	0.80[AMR][1000 genomes]
rs11011401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11011405	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11011426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11011431	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11594000	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1208587	1.00[JPT][hapmap]
rs12357256	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12571785	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12768276	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1322319	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1735621	0.83[ASN][1000 genomes]
rs1735629	0.86[ASN][1000 genomes]
rs1735641	0.86[ASN][1000 genomes]
rs1779075	0.82[ASN][1000 genomes]
rs2092993	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2092995	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2103936	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2142346	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144845	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2245081	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295872	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2474549	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474606	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs2505233	1.00[JPT][hapmap]
rs2505255	0.95[ASN][1000 genomes]
rs2738186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2738187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2738190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2738191	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2738207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2738208	1.00[JPT][hapmap]
rs2738209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2738210	0.80[ASN][1000 genomes]
rs2738219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2738222	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2749559	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2749569	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2749575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749588	0.89[JPT][hapmap]
rs2749589	1.00[JPT][hapmap]
rs2749593	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753878	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2753879	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2753880	0.86[ASN][1000 genomes]
rs2753882	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2799495	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2799499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2799501	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2799505	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799506	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799507	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799509	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs594594	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs596118	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615718	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615974	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61857002	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61858886	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624359	1.00[JPT][hapmap]
rs628330	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs633029	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs633400	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs637255	1.00[JPT][hapmap]
rs647617	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650873	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs656126	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs662928	0.89[JPT][hapmap]
rs675628	0.93[ASN][1000 genomes]
rs688608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7077222	0.81[AMR][1000 genomes]
rs7077233	0.81[AMR][1000 genomes]
rs72639538	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9417282	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9417283	0.80[ASN][1000 genomes]
rs9418297	0.81[AMR][1000 genomes]
rs9418298	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9418299	0.84[AMR][1000 genomes];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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38301800-38344400	Weak transcription	Hela-S3	cervix
2	chr10:38307600-38346600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:38307800-38343600	Weak transcription	Small Intestine	intestine
4	chr10:38307800-38344000	Weak transcription	Stomach Mucosa	stomach
5	chr10:38309800-38344200	Weak transcription	NH-A	brain
6	chr10:38314600-38342800	Weak transcription	Brain Substantia Nigra	brain
7	chr10:38315000-38342800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:38316600-38343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:38322400-38342800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:38323800-38343000	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:38324600-38343800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:38325200-38344000	Weak transcription	Osteobl	bone
13	chr10:38325800-38343200	Weak transcription	Brain Anterior Caudate	brain
14	chr10:38326000-38342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:38326600-38349200	Weak transcription	HepG2	liver
16	chr10:38327800-38344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:38334000-38343000	Weak transcription	Brain Germinal Matrix	brain
18	chr10:38334000-38350600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr10:38335200-38342800	Weak transcription	Fetal Kidney	kidney
20	chr10:38336200-38351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:38336400-38344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:38337200-38342800	Weak transcription	Placenta	Placenta
23	chr10:38338000-38348200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr10:38338200-38348800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:38339200-38347800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr10:38339600-38343800	Weak transcription	HSMMtube	muscle
27	chr10:38339800-38344000	Weak transcription	Esophagus	oesophagus
28	chr10:38339800-38344000	Weak transcription	Lung	lung
29	chr10:38340000-38342800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:38340200-38342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:38340800-38345800	ZNF genes & repeats	Dnd41	blood
32	chr10:38340800-38347400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr10:38340800-38348400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:38340800-38351200	ZNF genes & repeats	Liver	Liver
35	chr10:38340800-38351600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
36	chr10:38340800-38353400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr10:38341000-38347000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr10:38341200-38346800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr10:38341200-38351200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr10:38341200-38353800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:38341400-38346400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr10:38341400-38346800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr10:38341400-38348200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr10:38341600-38346400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:38341600-38351200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr10:38341600-38351400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr10:38341600-38351600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:38341800-38347800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr10:38342000-38342800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:38342000-38342800	Strong transcription	Pancreas	Pancrea

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