Variant report

Variant	rs289882
Chromosome Location	chr2:152105759-152105760
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	chr2:152105316..152108235-chr2:152116830..152118343,2	K562	blood:
2	chr2:152105250..152106816-chr2:152115696..152118343,2	K562	blood:

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10207595	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11694240	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12622615	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13383563	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs172341	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2113509	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs2161841	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs289830	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289831	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs289834	0.93[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289836	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs289837	0.84[CEU][hapmap]
rs289838	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs289839	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs289840	0.84[EUR][1000 genomes]
rs289866	0.82[EUR][1000 genomes]
rs289883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289887	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289908	0.81[EUR][1000 genomes]
rs289916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398598	0.82[EUR][1000 genomes]
rs453226	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4665119	0.81[AMR][1000 genomes]
rs4665120	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs4665123	0.92[CEU][hapmap]
rs55946491	0.89[EUR][1000 genomes]
rs60381734	0.89[EUR][1000 genomes]
rs6714194	0.81[AMR][1000 genomes]
rs6725961	0.93[CEU][hapmap]
rs6734376	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs6744327	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs6744450	0.91[EUR][1000 genomes]
rs6747930	0.93[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152094400-152117000	Weak transcription	A549	lung
2	chr2:152095400-152107200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:152100000-152106200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
5	chr2:152102000-152116600	Weak transcription	Pancreas	Pancrea
6	chr2:152103400-152117600	Weak transcription	Gastric	stomach
7	chr2:152103800-152106600	ZNF genes & repeats	Fetal Lung	lung
8	chr2:152103800-152107200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
10	chr2:152104400-152105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:152104400-152106800	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr2:152104400-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
14	chr2:152104600-152105800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr2:152104600-152105800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
16	chr2:152104600-152106600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr2:152104600-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
19	chr2:152104800-152105800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr2:152104800-152106600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr2:152104800-152106600	Strong transcription	Brain Hippocampus Middle	brain
22	chr2:152104800-152106600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:152105000-152105800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr2:152105000-152105800	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr2:152105000-152106400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr2:152105000-152106400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr2:152105000-152106400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr2:152105000-152106400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr2:152105000-152106600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr2:152105000-152106600	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr2:152105000-152106600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr2:152105000-152106600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr2:152105000-152106800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr2:152105000-152107000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:152105200-152105800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:152105200-152105800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:152105200-152105800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:152105200-152105800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:152105200-152105800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:152105200-152105800	ZNF genes & repeats	Liver	Liver
41	chr2:152105200-152105800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr2:152105200-152105800	ZNF genes & repeats	Lung	lung
43	chr2:152105200-152105800	ZNF genes & repeats	Ovary	ovary
44	chr2:152105200-152105800	Strong transcription	Rectal Smooth Muscle	rectum
45	chr2:152105200-152105800	ZNF genes & repeats	Right Ventricle	heart
46	chr2:152105200-152105800	ZNF genes & repeats	HSMMtube	muscle
47	chr2:152105200-152106000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:152105200-152106000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr2:152105200-152106000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr2:152105200-152106200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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