Variant report

Variant	rs1374163
Chromosome Location	chr2:114013468-114013469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11886472	1.00[JPT][hapmap]
rs11887525	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903972	1.00[JPT][hapmap]
rs13396369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17043146	1.00[JPT][hapmap]
rs17043176	1.00[JPT][hapmap]
rs2863244	0.82[YRI][hapmap]
rs67237254	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6734610	0.82[YRI][hapmap]
rs6743571	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
4	chr2:113999600-114028400	Weak transcription	Ovary	ovary
5	chr2:114002400-114015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:114007200-114014800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:114009000-114013800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:114009000-114015000	Weak transcription	K562	blood
14	chr2:114009000-114015400	Weak transcription	Left Ventricle	heart
15	chr2:114009200-114014400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:114009200-114015400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:114009800-114014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:114010000-114016200	Enhancers	Primary T cells from cord blood	blood
20	chr2:114010000-114016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:114010200-114013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:114010200-114014800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:114010200-114014800	Weak transcription	Fetal Heart	heart
24	chr2:114010200-114014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:114010200-114015000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:114010200-114015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:114010200-114015800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
29	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:114010600-114013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:114010600-114014000	Enhancers	HMEC	breast
32	chr2:114011200-114016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:114011400-114013600	Weak transcription	HSMM	muscle
34	chr2:114012000-114013600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:114012000-114013800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:114012200-114013600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:114012600-114015200	Weak transcription	A549	lung
38	chr2:114012800-114014800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:114013000-114013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:114013000-114013800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:114013000-114013800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:114013000-114013800	Enhancers	Osteobl	bone
43	chr2:114013000-114014000	Strong transcription	Lung	lung
44	chr2:114013000-114014000	Enhancers	NH-A	brain
45	chr2:114013000-114015600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:114013000-114016400	Weak transcription	Dnd41	blood
47	chr2:114013200-114013600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:114013200-114013800	Enhancers	Fetal Thymus	thymus
49	chr2:114013200-114014600	Strong transcription	Placenta	Placenta
50	chr2:114013200-114015600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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