Variant report

Variant	rs10205409
Chromosome Location	chr2:173375690-173375691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10208469	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803874	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12616959	0.93[JPT][hapmap]
rs12620581	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13383151	0.97[AFR][1000 genomes]
rs13402061	0.99[AFR][1000 genomes]
rs1574259	1.00[CEU][hapmap]
rs16860497	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs2178474	0.99[AFR][1000 genomes]
rs2178477	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290563	0.81[JPT][hapmap]
rs3792254	1.00[JPT][hapmap]
rs6727229	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7584971	1.00[JPT][hapmap]
rs7584977	1.00[JPT][hapmap]
rs7589362	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596259	0.82[CEU][hapmap]
rs7604404	0.82[CEU][hapmap]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
2	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
7	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
8	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:173367400-173376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:173369600-173376000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:173369600-173376000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:173369600-173376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:173369600-173376000	Weak transcription	Esophagus	oesophagus
15	chr2:173369600-173376000	Weak transcription	HUVEC	blood vessel
16	chr2:173369800-173376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:173371400-173375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:173372400-173377000	Weak transcription	Thymus	Thymus
19	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:173373200-173375800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:173373200-173376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:173373200-173376200	Weak transcription	NHEK	skin
23	chr2:173373200-173376400	Weak transcription	Fetal Thymus	thymus
24	chr2:173373400-173375800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:173373400-173375800	Weak transcription	Pancreas	Pancrea
26	chr2:173373400-173376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:173373400-173376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:173373400-173376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:173373600-173376400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:173373800-173376000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:173374200-173376000	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:173374200-173376000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:173374200-173376400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:173374200-173376600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:173374400-173375800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:173374600-173375800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:173374800-173375800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:173374800-173376000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:173374800-173376600	Strong transcription	HSMMtube	muscle
40	chr2:173375000-173375800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:173375000-173376400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:173375200-173376400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:173375200-173377600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr2:173375400-173375800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr2:173375400-173375800	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:173375400-173375800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr2:173375400-173376600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:173375400-173376800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:173375400-173378400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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