Variant report

Variant	rs11683285
Chromosome Location	chr2:152111965-152111966
allele	A/G
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	chr2:152110500..152112739-chr2:152114755..152117569,2	K562	blood:
4	chr2:152101423..152103992-chr2:152110417..152111969,2	K562	blood:

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11687575	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2113509	1.00[JPT][hapmap]
rs72856918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:99 , 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	chr2:152105800-152112200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:152105800-152112400	Strong transcription	Liver	Liver
10	chr2:152105800-152114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:152105800-152116800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:152105800-152116800	Weak transcription	K562	blood
13	chr2:152105800-152117200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:152105800-152117200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:152106000-152112600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:152106400-152112000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:152106400-152112400	Strong transcription	Primary T cells from cord blood	blood
18	chr2:152106400-152112400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:152106400-152113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:152106400-152116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:152106400-152117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:152106400-152117200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:152106400-152117600	Weak transcription	Left Ventricle	heart
24	chr2:152106600-152112200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:152106600-152112200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:152106600-152112400	Strong transcription	Fetal Lung	lung
27	chr2:152106600-152112400	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:152106600-152114200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:152106600-152116800	Weak transcription	HUVEC	blood vessel
30	chr2:152106600-152117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:152106600-152117000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:152106600-152117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:152106600-152117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:152106600-152117200	Weak transcription	Fetal Intestine Large	intestine
35	chr2:152106600-152117400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:152106800-152117000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:152107400-152116800	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:152107600-152113400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:152107600-152117000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:152107800-152112400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:152107800-152112600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:152108000-152112000	Strong transcription	Fetal Stomach	stomach
43	chr2:152108000-152114400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:152108000-152114600	Weak transcription	HSMMtube	muscle
45	chr2:152108000-152117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:152108000-152117200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:152108000-152117200	Weak transcription	HSMM	muscle
48	chr2:152108200-152114600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:152108200-152117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:152108200-152117000	Weak transcription	NHDF-Ad	bronchial

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