Variant report

Variant	rs12243492
Chromosome Location	chr10:96095015-96095016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11187855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187896	0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187898	0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11187903	0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11187904	0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11187954	1.00[AMR][1000 genomes]
rs11188002	1.00[AMR][1000 genomes]
rs12243849	0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249578	1.00[AMR][1000 genomes]
rs12249709	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12250011	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12250480	1.00[AMR][1000 genomes]
rs12254178	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12254730	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12256637	1.00[AMR][1000 genomes]
rs12259382	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266679	1.00[AMR][1000 genomes]
rs12266908	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269029	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244404	1.00[AMR][1000 genomes]
rs57412910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60996053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61751499	1.00[EUR][1000 genomes]
rs6583938	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7067896	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7081603	1.00[AMR][1000 genomes]
rs7082254	1.00[AMR][1000 genomes]
rs7092351	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73319896	1.00[EUR][1000 genomes]
rs73319898	1.00[EUR][1000 genomes]
rs73321857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323523	1.00[AMR][1000 genomes]
rs73323528	1.00[AMR][1000 genomes]
rs73327452	1.00[AMR][1000 genomes]
rs73327462	1.00[AMR][1000 genomes]
rs73327472	1.00[AMR][1000 genomes]
rs73327486	1.00[AMR][1000 genomes]
rs73327491	1.00[AMR][1000 genomes]
rs73327495	1.00[AMR][1000 genomes]
rs73329611	1.00[AMR][1000 genomes]
rs7902189	0.81[YRI][hapmap]
rs7907525	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9665608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
3	chr10:96075200-96112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:96076000-96095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:96076600-96097000	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:96077600-96100200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr10:96078200-96121600	Weak transcription	Fetal Brain Male	brain
8	chr10:96080200-96095800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:96080400-96096000	Strong transcription	HMEC	breast
10	chr10:96080400-96100200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr10:96080400-96105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:96080400-96121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:96080600-96101800	Weak transcription	Thymus	Thymus
14	chr10:96080800-96102600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:96081000-96105600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr10:96081000-96118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:96081200-96118400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:96081600-96100400	Strong transcription	Fetal Intestine Large	intestine
19	chr10:96081600-96117400	Strong transcription	NH-A	brain
20	chr10:96081600-96121000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:96081600-96121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:96081800-96100400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:96081800-96117400	Strong transcription	HSMM	muscle
24	chr10:96081800-96121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:96081800-96121000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:96082000-96118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:96082200-96095600	Weak transcription	Brain Substantia Nigra	brain
28	chr10:96082200-96113000	Weak transcription	Esophagus	oesophagus
29	chr10:96082400-96099400	Weak transcription	Brain Angular Gyrus	brain
30	chr10:96082400-96121000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:96082600-96109600	Weak transcription	Spleen	Spleen
32	chr10:96083000-96119800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:96083200-96118800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr10:96084000-96099800	Strong transcription	Primary T cells from cord blood	blood
35	chr10:96084400-96118200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:96084800-96098800	Weak transcription	Pancreas	Pancrea
37	chr10:96085000-96097000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:96085000-96121000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:96085000-96122200	Weak transcription	Gastric	stomach
40	chr10:96085400-96099400	Weak transcription	Colonic Mucosa	Colon
41	chr10:96085400-96109000	Weak transcription	Ovary	ovary
42	chr10:96086200-96121200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:96086800-96103400	Strong transcription	GM12878-XiMat	blood
44	chr10:96086800-96105400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:96087200-96095800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:96087200-96100400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:96087400-96095400	Weak transcription	Fetal Intestine Small	intestine
48	chr10:96087600-96118600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr10:96087600-96121200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:96088000-96118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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