Variant report

Variant	rs2271983
Chromosome Location	chr12:31578584-31578585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31576977..31579170-chr12:31581006..31582652,2	K562	blood:
2	chr12:31571437..31573698-chr12:31576190..31578672,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12809140	1.00[CHB][hapmap]
rs12826193	1.00[CHB][hapmap]
rs16918738	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16918744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16918795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs34271764	0.92[ASN][1000 genomes]
rs3850967	1.00[CHB][hapmap]
rs4421825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455667	0.92[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:66 , 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	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
5	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
6	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
12	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
13	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
14	chr12:31555600-31579600	Weak transcription	HepG2	liver
15	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
16	chr12:31556200-31587200	Weak transcription	NH-A	brain
17	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
18	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:31566800-31579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:31567400-31635800	Weak transcription	Osteobl	bone
24	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:31572000-31612600	Weak transcription	HSMM	muscle
26	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
28	chr12:31572400-31589000	Weak transcription	Aorta	Aorta
29	chr12:31572400-31596000	Weak transcription	Lung	lung
30	chr12:31572400-31604800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
34	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:31572600-31584400	Weak transcription	Fetal Kidney	kidney
36	chr12:31572600-31600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:31573400-31597600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:31573800-31583000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:31573800-31584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:31574200-31595200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:31574600-31583800	Weak transcription	Fetal Stomach	stomach
42	chr12:31576000-31579800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:31576200-31579400	Strong transcription	Liver	Liver
44	chr12:31576200-31579400	Strong transcription	Fetal Intestine Large	intestine
45	chr12:31576400-31579000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:31576400-31579200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:31576400-31579200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:31576400-31579400	Strong transcription	Left Ventricle	heart
49	chr12:31576600-31579600	Strong transcription	Fetal Brain Female	brain
50	chr12:31576800-31579400	Strong transcription	A549	lung

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