Variant report

Variant	rs289916
Chromosome Location	chr2:152113456-152113457
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152110867..152113616-chr2:152116296..152118304,2	K562	blood:
2	chr2:152111081..152114725-chr2:152118123..152119862,3	MCF-7	breast:
3	chr2:152113115..152114989-chr2:152116609..152119218,3	MCF-7	breast:
4	chr2:152112196..152114253-chr2:152116352..152117895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10207595	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11694240	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12622615	0.90[CEU][hapmap];0.85[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	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs289830	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289831	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs289834	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289836	0.93[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];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs289840	0.84[EUR][1000 genomes]
rs289866	0.82[EUR][1000 genomes]
rs289882	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]
rs289883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289886	1.00[YRI][hapmap]
rs289887	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289902	1.00[YRI][hapmap]
rs289908	0.81[EUR][1000 genomes]
rs398598	0.82[EUR][1000 genomes]
rs414488	0.93[YRI][hapmap]
rs453226	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4665120	0.87[CEU][hapmap]
rs4665123	0.92[CEU][hapmap]
rs55946491	0.89[EUR][1000 genomes]
rs60381734	0.89[EUR][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];0.85[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152094400-152117000	Weak transcription	A549	lung
2	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
3	chr2:152102000-152116600	Weak transcription	Pancreas	Pancrea
4	chr2:152103400-152117600	Weak transcription	Gastric	stomach
5	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
6	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
7	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
8	chr2:152105800-152114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:152105800-152116800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:152105800-152116800	Weak transcription	K562	blood
11	chr2:152105800-152117200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:152105800-152117200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:152106400-152113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:152106400-152116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:152106400-152117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:152106400-152117200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:152106400-152117600	Weak transcription	Left Ventricle	heart
18	chr2:152106600-152114200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:152106600-152116800	Weak transcription	HUVEC	blood vessel
20	chr2:152106600-152117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:152106600-152117000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:152106600-152117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:152106600-152117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:152106600-152117200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:152106600-152117400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:152106800-152117000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:152107400-152116800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:152107600-152117000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:152108000-152114400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:152108000-152114600	Weak transcription	HSMMtube	muscle
31	chr2:152108000-152117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:152108000-152117200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:152108000-152117200	Weak transcription	HSMM	muscle
34	chr2:152108200-152114600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:152108200-152117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:152108200-152117000	Weak transcription	NHDF-Ad	bronchial
37	chr2:152108400-152116600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:152108400-152116800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:152108400-152117000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:152108400-152117000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:152108400-152117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:152108600-152117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:152109000-152116600	Weak transcription	Placenta	Placenta
44	chr2:152109000-152116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:152109000-152117000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:152109000-152117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:152109200-152117200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:152109400-152117000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:152109800-152116800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:152109800-152117000	Weak transcription	Rectal Mucosa Donor 29	rectum

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