Variant report

Variant	rs7921281
Chromosome Location	chr10:43652652-43652653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10159558	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238441	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11238465	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12258585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12260994	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12262152	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12765436	0.91[ASN][1000 genomes]
rs12765715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12765838	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12766298	0.91[ASN][1000 genomes]
rs12773930	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs12775330	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12775743	0.82[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12779732	0.91[ASN][1000 genomes]
rs12783340	1.00[CHB][hapmap]
rs17158594	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs17363630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1799939	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1800863	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1864393	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1879298	0.91[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[TSI][hapmap]
rs1879299	0.82[AMR][1000 genomes]
rs2075911	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28401552	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900627	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3026776	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3026779	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3026781	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3026782	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34817887	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4987091	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7067798	0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.80[TSI][hapmap]
rs7074319	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7086299	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7092548	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7096367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71505665	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71505667	0.91[ASN][1000 genomes]
rs71505668	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72783237	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72783242	0.91[ASN][1000 genomes]
rs7893332	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7903283	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7910648	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7910805	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7923256	0.91[CEU][hapmap];0.88[AMR][1000 genomes]
rs9804209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
3	chr10:43636600-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43636600-43655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:43637400-43655200	Weak transcription	HSMM	muscle
6	chr10:43641400-43657400	Weak transcription	A549	lung
7	chr10:43645600-43656800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:43646600-43658400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:43647000-43655600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr10:43647200-43656200	Weak transcription	Spleen	Spleen
11	chr10:43647200-43656400	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:43647200-43667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:43647400-43654800	Weak transcription	Psoas Muscle	Psoas
14	chr10:43647400-43655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:43647400-43655400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:43647400-43655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:43647400-43656200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:43647400-43656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:43647400-43656800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:43647400-43657200	Weak transcription	Left Ventricle	heart
21	chr10:43647400-43667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:43647600-43654800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:43647600-43654800	Weak transcription	Adipose Nuclei	Adipose
24	chr10:43647600-43654800	Weak transcription	HSMMtube	muscle
25	chr10:43647600-43654800	Weak transcription	NHLF	lung
26	chr10:43647600-43655600	Weak transcription	Brain Anterior Caudate	brain
27	chr10:43647600-43655600	Weak transcription	GM12878-XiMat	blood
28	chr10:43647600-43659600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:43647600-43664000	Weak transcription	Fetal Brain Male	brain
30	chr10:43647600-43667000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr10:43648400-43653200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:43648600-43653000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:43648800-43653200	Enhancers	Fetal Lung	lung
34	chr10:43649000-43653200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr10:43649200-43654800	Weak transcription	Osteobl	bone
36	chr10:43649200-43657000	Weak transcription	Aorta	Aorta
37	chr10:43649200-43661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:43649400-43655400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:43649600-43657600	Weak transcription	Colon Smooth Muscle	Colon
40	chr10:43650400-43653000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr10:43650400-43653200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:43650400-43667600	Weak transcription	Brain Germinal Matrix	brain
43	chr10:43650600-43652800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr10:43650800-43652800	Enhancers	Brain Hippocampus Middle	brain
45	chr10:43650800-43653200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:43650800-43656200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:43651000-43653000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:43651000-43655400	Weak transcription	NHEK	skin
49	chr10:43651000-43671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:43651200-43655600	Weak transcription	Small Intestine	intestine

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