Variant report

Variant	rs1792274
Chromosome Location	chr11:71140455-71140456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71138540..71142714-chr11:71144455..71147360,4	K562	blood:
2	chr11:71139168..71142453-chr11:71148977..71152491,3	K562	blood:
3	chr11:71139536..71142433-chr11:71147657..71149469,2	K562	blood:
4	chr11:71138911..71140880-chr11:71154532..71157322,2	K562	blood:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1044535	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10751102	0.91[EUR][1000 genomes]
rs10792743	0.86[EUR][1000 genomes]
rs10898117	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11233606	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11608138	0.94[EUR][1000 genomes]
rs12281481	0.88[EUR][1000 genomes]
rs1623080	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626291	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790325	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1790326	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790327	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790334	0.94[EUR][1000 genomes]
rs1790336	0.86[AMR][1000 genomes]
rs1790337	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790346	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790348	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790351	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790354	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790355	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790356	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790357	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790373	0.94[EUR][1000 genomes]
rs1792238	0.86[AMR][1000 genomes]
rs1792243	0.80[AMR][1000 genomes]
rs1792265	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792268	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792272	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792273	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792275	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792276	0.97[EUR][1000 genomes]
rs1792279	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792285	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792316	0.94[EUR][1000 genomes]
rs1792319	0.97[EUR][1000 genomes]
rs2155425	0.86[EUR][1000 genomes]
rs2186773	0.83[EUR][1000 genomes]
rs2186778	0.91[EUR][1000 genomes]
rs2276353	0.91[EUR][1000 genomes]
rs2276354	0.91[EUR][1000 genomes]
rs2282617	0.91[EUR][1000 genomes]
rs2282618	0.91[EUR][1000 genomes]
rs2282619	0.83[EUR][1000 genomes]
rs2298772	0.88[EUR][1000 genomes]
rs2511279	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851693	0.97[EUR][1000 genomes]
rs3763859	0.91[EUR][1000 genomes]
rs3763860	0.91[EUR][1000 genomes]
rs3794065	0.91[EUR][1000 genomes]
rs3794066	0.91[EUR][1000 genomes]
rs3794067	0.91[EUR][1000 genomes]
rs3814731	0.91[EUR][1000 genomes]
rs3814734	0.91[EUR][1000 genomes]
rs4944063	0.91[EUR][1000 genomes]
rs4944064	0.91[EUR][1000 genomes]
rs4944075	0.88[EUR][1000 genomes]
rs4945001	0.88[EUR][1000 genomes]
rs4945007	0.86[EUR][1000 genomes]
rs4945013	0.83[EUR][1000 genomes]
rs6592154	0.91[EUR][1000 genomes]
rs6592180	0.83[EUR][1000 genomes]
rs7110053	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7110316	0.89[EUR][1000 genomes]
rs7123973	0.91[EUR][1000 genomes]
rs7124675	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7129099	0.88[EUR][1000 genomes]
rs751389	0.88[EUR][1000 genomes]
rs760241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7690	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926054	0.83[EUR][1000 genomes]
rs7950584	0.86[EUR][1000 genomes]
rs949176	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949177	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71132600-71144000	Weak transcription	Spleen	Spleen
2	chr11:71135000-71150600	Weak transcription	NH-A	brain
3	chr11:71135400-71145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:71137000-71144800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:71137200-71144000	Weak transcription	Hela-S3	cervix
6	chr11:71137200-71145000	Weak transcription	Brain Germinal Matrix	brain
7	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:71137600-71146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:71138000-71144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:71138000-71145200	Weak transcription	HMEC	breast
11	chr11:71139200-71145000	Weak transcription	GM12878-XiMat	blood
12	chr11:71139200-71145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:71139400-71141000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:71139400-71145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:71139600-71140600	Enhancers	Brain Anterior Caudate	brain
16	chr11:71139600-71140600	Enhancers	Left Ventricle	heart
17	chr11:71139600-71140800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:71139600-71140800	Enhancers	Fetal Lung	lung
19	chr11:71139600-71140800	Enhancers	Gastric	stomach
20	chr11:71139600-71141000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:71139600-71141600	Enhancers	Adipose Nuclei	Adipose
22	chr11:71139600-71145200	Enhancers	Ovary	ovary
23	chr11:71139800-71141800	Weak transcription	Liver	Liver
24	chr11:71139800-71142800	Enhancers	HepG2	liver
25	chr11:71140000-71140600	Enhancers	Fetal Brain Male	brain
26	chr11:71140000-71141200	Enhancers	Stomach Mucosa	stomach
27	chr11:71140000-71144000	Weak transcription	Fetal Brain Female	brain
28	chr11:71140200-71140600	Enhancers	Lung	lung
29	chr11:71140200-71140800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:71140200-71141600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:71140400-71140600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:71140400-71140600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:71140400-71140600	Enhancers	Right Ventricle	heart
34	chr11:71140400-71140800	Enhancers	Brain Angular Gyrus	brain
35	chr11:71140400-71141000	Enhancers	HSMMtube	muscle
36	chr11:71140400-71141200	Enhancers	Right Atrium	heart
37	chr11:71140400-71142600	Weak transcription	Fetal Intestine Small	intestine
38	chr11:71140400-71145000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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