Variant report

Variant	rs12087114
Chromosome Location	chr1:10222150-10222151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11806619	0.88[EUR][1000 genomes]
rs12058944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076005	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12078482	0.94[EUR][1000 genomes]
rs12078483	0.94[EUR][1000 genomes]
rs17034563	0.94[EUR][1000 genomes]
rs55704135	0.89[AFR][1000 genomes]
rs6699249	0.88[EUR][1000 genomes]
rs7522444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9430244	0.86[ASW][hapmap]
rs9782879	1.00[EUR][1000 genomes]
rs9782923	1.00[EUR][1000 genomes]
rs9782938	1.00[EUR][1000 genomes]
rs9782997	1.00[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
9	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
11	chr1:10197600-10225000	Weak transcription	NHEK	skin
12	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
14	chr1:10201600-10231200	Weak transcription	HMEC	breast
15	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
16	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:10207200-10224400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
21	chr1:10212000-10222600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:10212000-10224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:10212000-10224800	Weak transcription	Fetal Kidney	kidney
24	chr1:10212000-10225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:10213000-10224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:10213200-10231000	Weak transcription	A549	lung
27	chr1:10213400-10222600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:10215200-10229200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:10215400-10225400	Weak transcription	NHLF	lung
33	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:10215600-10225000	Weak transcription	HSMM	muscle
35	chr1:10216000-10225400	Weak transcription	Right Ventricle	heart
36	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
37	chr1:10217800-10226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10217800-10230200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:10218000-10222400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:10218000-10223800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:10218000-10226600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:10218000-10226800	Strong transcription	Primary T cells from cord blood	blood
43	chr1:10218000-10226800	Strong transcription	Fetal Thymus	thymus
44	chr1:10218000-10226800	Strong transcription	Lung	lung
45	chr1:10218000-10234600	Strong transcription	Liver	Liver
46	chr1:10218200-10223600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:10218200-10226600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:10218200-10229600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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