Variant report

Variant	rs71440988
Chromosome Location	chr12:31569346-31569347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1012154	0.85[ASN][1000 genomes]
rs10771827	0.81[EUR][1000 genomes]
rs10771828	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10771832	0.83[EUR][1000 genomes]
rs10843942	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051418	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1150950	0.82[ASN][1000 genomes]
rs1150953	0.82[ASN][1000 genomes]
rs11615961	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1259235	0.85[ASN][1000 genomes]
rs1259386	0.80[AFR][1000 genomes]
rs1259428	0.85[EUR][1000 genomes]
rs1259430	0.81[ASN][1000 genomes]
rs1271663	0.82[ASN][1000 genomes]
rs12814351	0.81[AMR][1000 genomes]
rs1469673	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2116704	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2568884	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568888	0.86[ASN][1000 genomes]
rs2604052	0.80[AFR][1000 genomes]
rs2617190	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617200	0.82[ASN][1000 genomes]
rs2682674	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2682680	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2682697	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682700	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2888762	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35906870	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4931488	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4931501	0.80[EUR][1000 genomes]
rs6416254	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6487989	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66521153	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs708200	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs708209	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs708214	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs708219	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134365	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7294574	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7302698	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7303447	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7303848	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7313158	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7313689	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7314417	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793146	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793154	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs793157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793176	0.85[ASN][1000 genomes]
rs793180	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793184	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959877	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7962896	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7967832	0.81[EUR][1000 genomes]
rs7968291	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7975761	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7976644	0.82[EUR][1000 genomes]
rs809407	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][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:77 , 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	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
3	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
4	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
6	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
7	chr12:31540800-31572200	Weak transcription	Lung	lung
8	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
12	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
16	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
20	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
22	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
23	chr12:31550800-31573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:31555600-31571200	Weak transcription	Aorta	Aorta
25	chr12:31555600-31579600	Weak transcription	HepG2	liver
26	chr12:31556200-31574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
28	chr12:31556200-31587200	Weak transcription	NH-A	brain
29	chr12:31557000-31573000	Weak transcription	Gastric	stomach
30	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
31	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31560400-31577600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:31561200-31572600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:31562200-31571000	Weak transcription	Right Ventricle	heart
35	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:31564600-31570000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:31564600-31571000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:31564800-31572400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:31565200-31570200	Strong transcription	Fetal Intestine Large	intestine
41	chr12:31565800-31578400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:31566400-31571600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:31566600-31570800	Weak transcription	HSMMtube	muscle
45	chr12:31566600-31571000	Weak transcription	Left Ventricle	heart
46	chr12:31566600-31571600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:31566800-31570400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:31566800-31570600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:31566800-31570600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:31566800-31570800	Weak transcription	Fetal Kidney	kidney

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