Variant report

Variant	rs7313689
Chromosome Location	chr12:31581114-31581115
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31475514..31477754-chr12:31580018..31582088,2	K562	blood:
2	chr12:31576977..31579170-chr12:31581006..31582652,2	K562	blood:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10743757	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743759	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771827	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771828	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10771832	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771838	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771843	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771844	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10771845	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771846	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843942	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843958	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843959	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843963	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051418	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051435	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051437	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051439	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051441	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615961	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259355	0.83[ASN][1000 genomes]
rs1259428	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259432	0.87[ASN][1000 genomes]
rs1271128	0.82[ASN][1000 genomes]
rs1469673	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996693	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116704	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2352048	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617190	0.81[EUR][1000 genomes]
rs2682697	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2682700	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2888762	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3803113	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844573	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3850965	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3898368	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4482118	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930980	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931488	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931501	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4931506	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931507	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6416254	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487989	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6487992	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66521153	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708200	0.80[AMR][1000 genomes]
rs708209	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs708214	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs708219	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7133082	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134365	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135856	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136476	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7136943	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137406	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71440988	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7294574	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302698	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303447	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303848	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7307593	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307616	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7313118	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7313158	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7314417	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793146	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793154	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793157	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793180	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793184	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7954023	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954595	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7959877	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962896	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963161	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7967832	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7968291	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7974437	0.86[ASN][1000 genomes]
rs7975761	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7976644	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977453	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738834	0.85[EUR][1000 genomes];0.89[ASN][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
3	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
4	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
5	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
9	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
10	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
11	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
12	chr12:31556200-31587200	Weak transcription	NH-A	brain
13	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
14	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:31567400-31635800	Weak transcription	Osteobl	bone
18	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:31572000-31612600	Weak transcription	HSMM	muscle
20	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
22	chr12:31572400-31589000	Weak transcription	Aorta	Aorta
23	chr12:31572400-31596000	Weak transcription	Lung	lung
24	chr12:31572400-31604800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
28	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:31572600-31584400	Weak transcription	Fetal Kidney	kidney
30	chr12:31572600-31600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:31573400-31597600	Weak transcription	Primary B cells from cord blood	blood
32	chr12:31573800-31583000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:31573800-31584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:31574200-31595200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:31574600-31583800	Weak transcription	Fetal Stomach	stomach
36	chr12:31577000-31599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:31577400-31593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:31577600-31582400	Weak transcription	Fetal Intestine Small	intestine
39	chr12:31577600-31597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:31577600-31600200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:31577800-31583600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:31578200-31583600	Weak transcription	Ovary	ovary
44	chr12:31578200-31599800	Weak transcription	Brain Germinal Matrix	brain
45	chr12:31578200-31604800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:31578400-31584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:31579000-31632000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:31579200-31584800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:31579200-31603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:31579200-31605000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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