Variant report

Variant	rs1027138
Chromosome Location	chr2:179723019-179723020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11893004	0.93[ASN][1000 genomes]
rs12476741	0.84[ASN][1000 genomes]
rs12477346	0.86[ASN][1000 genomes]
rs13004438	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17362581	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34259102	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62177296	0.86[ASN][1000 genomes]
rs6709708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731864	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs883894	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
5	chr2:179702400-179729200	Weak transcription	Lung	lung
6	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
8	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
9	chr2:179710800-179724000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:179711600-179723800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:179711600-179728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:179711600-179728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:179712000-179727000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:179712200-179725800	Weak transcription	Left Ventricle	heart
16	chr2:179713000-179724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:179713400-179729200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:179714000-179723800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:179718200-179728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:179718200-179728800	Weak transcription	Primary B cells from cord blood	blood
23	chr2:179718400-179728400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:179719800-179723600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:179719800-179725400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:179720200-179723600	Weak transcription	NHDF-Ad	bronchial
27	chr2:179720200-179723800	Weak transcription	HSMM	muscle
28	chr2:179720200-179728000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:179720800-179723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:179720800-179723600	Weak transcription	HSMMtube	muscle
31	chr2:179720800-179726400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:179721000-179727800	Weak transcription	Primary T cells from cord blood	blood
33	chr2:179722000-179725600	Enhancers	Fetal Heart	heart
34	chr2:179722400-179723800	Weak transcription	Fetal Brain Female	brain
35	chr2:179722400-179728800	Weak transcription	Aorta	Aorta
36	chr2:179722800-179723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:179723000-179723400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:179723000-179723400	Weak transcription	Fetal Lung	lung
39	chr2:179723000-179724600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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