Variant report

Variant	rs12058944
Chromosome Location	chr1:10207591-10207592
allele	A/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]
rs12076005	1.00[YRI][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]
rs12087114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.83[YRI][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10180000-10211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:10182800-10211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
8	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:10185800-10211400	Weak transcription	A549	lung
11	chr1:10186200-10207800	Strong transcription	Fetal Intestine Large	intestine
12	chr1:10186600-10207800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:10186600-10207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:10188400-10208200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:10188400-10208600	Strong transcription	Fetal Stomach	stomach
16	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:10191800-10209200	Weak transcription	Fetal Heart	heart
19	chr1:10191800-10215600	Weak transcription	Psoas Muscle	Psoas
20	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
21	chr1:10193400-10211200	Weak transcription	Fetal Kidney	kidney
22	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10195400-10219400	Weak transcription	Colonic Mucosa	Colon
24	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
25	chr1:10196800-10218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:10197600-10214800	Weak transcription	NHDF-Ad	bronchial
27	chr1:10197600-10225000	Weak transcription	NHEK	skin
28	chr1:10197800-10215600	Weak transcription	Right Ventricle	heart
29	chr1:10197800-10219800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
31	chr1:10197800-10220000	Weak transcription	NH-A	brain
32	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
34	chr1:10200000-10208400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:10200000-10212800	Weak transcription	Fetal Brain Female	brain
36	chr1:10200600-10207800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:10200600-10208000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:10201200-10209200	Weak transcription	Fetal Lung	lung
39	chr1:10201400-10211400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:10201600-10211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:10201600-10215200	Weak transcription	Aorta	Aorta
42	chr1:10201600-10231200	Weak transcription	HMEC	breast
43	chr1:10202000-10212800	Weak transcription	HepG2	liver
44	chr1:10202400-10209000	Strong transcription	Fetal Intestine Small	intestine
45	chr1:10202800-10207600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:10203200-10213400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
48	chr1:10203600-10207800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:10203600-10207800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:10203800-10207600	Strong transcription	Left Ventricle	heart

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