Variant report

Variant	rs1427283
Chromosome Location	chr2:231282791-231282792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231281967..231284273-chr2:231304753..231307439,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178594	0.86[ASN][1000 genomes]
rs10181582	0.80[YRI][hapmap]
rs10182438	0.81[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs10191957	0.92[ASN][1000 genomes]
rs10205096	0.89[ASN][1000 genomes]
rs1156156	0.89[CHB][hapmap]
rs11675846	0.85[ASN][1000 genomes]
rs12694859	0.80[YRI][hapmap]
rs13390006	0.87[YRI][hapmap]
rs13398034	0.90[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs13406769	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13411586	0.90[CHB][hapmap];0.94[CHD][hapmap];0.94[ASN][1000 genomes]
rs1559987	0.87[ASN][1000 genomes]
rs2255345	0.90[CHB][hapmap]
rs3754945	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893833	1.00[CHB][hapmap]
rs3893834	1.00[CHB][hapmap]
rs4364013	0.80[YRI][hapmap]
rs58742879	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58941251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60304451	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192251	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193374	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193375	0.96[ASN][1000 genomes]
rs62193377	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193379	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193406	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62193407	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62193410	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs890674	0.90[CHB][hapmap]
rs9678342	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231280000-231283600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:231280400-231283400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr2:231280400-231283600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:231280400-231283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:231280600-231282800	Active TSS	Small Intestine	intestine
6	chr2:231280600-231283400	Active TSS	Brain Hippocampus Middle	brain
7	chr2:231280600-231283400	Active TSS	Ovary	ovary
8	chr2:231280600-231283400	Active TSS	Right Ventricle	heart
9	chr2:231280600-231283600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:231280600-231283800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:231280600-231283800	Active TSS	K562	blood
12	chr2:231280600-231284000	Active TSS	Right Atrium	heart
13	chr2:231280800-231282800	Active TSS	Fetal Thymus	thymus
14	chr2:231280800-231282800	Active TSS	Left Ventricle	heart
15	chr2:231280800-231283000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:231280800-231283000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:231280800-231283000	Active TSS	Primary T cells fromperipheralblood	blood
18	chr2:231280800-231283000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:231280800-231283000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr2:231280800-231283000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:231280800-231283000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:231280800-231283000	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:231280800-231283000	Active TSS	Thymus	Thymus
24	chr2:231280800-231283000	Active TSS	NHEK	skin
25	chr2:231280800-231283200	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:231280800-231283200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:231280800-231283200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr2:231280800-231283200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:231280800-231283200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:231280800-231283200	Active TSS	Hela-S3	cervix
31	chr2:231280800-231283400	Active TSS	Aorta	Aorta
32	chr2:231280800-231283400	Active TSS	Stomach Smooth Muscle	stomach
33	chr2:231280800-231283400	Active TSS	NHDF-Ad	bronchial
34	chr2:231280800-231283600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:231280800-231283600	Active TSS	Brain Anterior Caudate	brain
36	chr2:231280800-231283600	Active TSS	Colonic Mucosa	Colon
37	chr2:231281000-231283200	Active TSS	Brain Substantia Nigra	brain
38	chr2:231281200-231283200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:231281200-231283400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:231281200-231284000	Active TSS	Psoas Muscle	Psoas
41	chr2:231281600-231282800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:231281600-231283200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:231281600-231283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:231281600-231283400	Weak transcription	Esophagus	oesophagus
45	chr2:231281600-231283400	Weak transcription	Lung	lung
46	chr2:231281600-231283400	Weak transcription	Pancreas	Pancrea
47	chr2:231281600-231283400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:231281600-231283400	Weak transcription	Spleen	Spleen
49	chr2:231281600-231283600	Flanking Active TSS	Dnd41	blood
50	chr2:231281600-231294800	Weak transcription	Gastric	stomach

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