Variant report

Variant	rs2366547
Chromosome Location	chr2:32251109-32251110
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	chr2:32250235..32253050-chr2:32264132..32265675,2	MCF-7	breast:
2	chr2:32249788..32251939-chr2:32269285..32271438,2	K562	blood:

Variant related genes	Relation type
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11124272	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691939	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12468012	0.88[EUR][1000 genomes]
rs12478134	0.87[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12991444	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13006495	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs13013695	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17011801	0.87[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs177082	0.87[CEU][hapmap]
rs212689	0.87[CEU][hapmap]
rs212751	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs212754	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs212761	0.84[JPT][hapmap]
rs2280968	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34197800	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs35196278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs375050	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs3754835	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3769605	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769611	0.81[JPT][hapmap]
rs462878	0.86[CEU][hapmap]
rs61399065	0.83[EUR][1000 genomes]
rs71446036	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7556942	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574000	0.84[CEU][hapmap]

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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32236400-32264200	Weak transcription	Gastric	stomach
2	chr2:32236600-32253400	Weak transcription	Esophagus	oesophagus
3	chr2:32236600-32261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
8	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
10	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
11	chr2:32236800-32251600	Weak transcription	Stomach Mucosa	stomach
12	chr2:32236800-32253200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:32236800-32258800	Weak transcription	Fetal Kidney	kidney
14	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
16	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
18	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
20	chr2:32237000-32251200	Weak transcription	Colonic Mucosa	Colon
21	chr2:32237000-32259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:32237000-32262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:32237000-32263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:32237000-32263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:32237000-32263800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:32237200-32252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:32237400-32264000	Weak transcription	GM12878-XiMat	blood
28	chr2:32238800-32258800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:32240000-32254000	Strong transcription	Fetal Intestine Large	intestine
30	chr2:32240400-32254000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:32240800-32255600	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:32240800-32260200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:32241000-32254600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:32241400-32255400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:32241400-32255400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:32242600-32254400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:32242600-32254800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:32243400-32259200	Weak transcription	Hela-S3	cervix
39	chr2:32243800-32254400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:32244200-32254800	Strong transcription	Liver	Liver
41	chr2:32244600-32263600	Weak transcription	NHEK	skin
42	chr2:32245600-32264200	Weak transcription	Aorta	Aorta
43	chr2:32246000-32263200	Weak transcription	Pancreas	Pancrea
44	chr2:32246400-32253200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:32246800-32255800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:32247000-32255200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:32247200-32254800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:32247400-32254600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:32247600-32255200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:32247600-32255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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