Variant report

Variant	rs7540592
Chromosome Location	chr1:86144931-86144932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11490910	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17127983	1.00[JPT][hapmap]
rs17128041	1.00[JPT][hapmap]
rs17128078	1.00[JPT][hapmap]
rs17128135	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128287	1.00[JPT][hapmap]
rs17128290	1.00[JPT][hapmap]
rs41289761	0.89[EUR][1000 genomes]
rs41289763	0.89[EUR][1000 genomes]
rs60021908	0.89[EUR][1000 genomes]
rs61215520	0.89[EUR][1000 genomes]
rs6681351	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6695359	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7512456	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7512713	1.00[JPT][hapmap]
rs7520146	1.00[CEU][hapmap]
rs7529764	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:86103600-86172600	Weak transcription	Gastric	stomach
7	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
8	chr1:86115200-86146800	Weak transcription	Psoas Muscle	Psoas
9	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:86116400-86146200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:86116600-86145400	Weak transcription	Fetal Stomach	stomach
12	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
13	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
14	chr1:86119600-86157800	Weak transcription	Hela-S3	cervix
15	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
16	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
17	chr1:86120200-86146200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:86127600-86146800	Weak transcription	Fetal Kidney	kidney
19	chr1:86128600-86146000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:86129400-86146800	Weak transcription	Aorta	Aorta
21	chr1:86129400-86147000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:86132800-86165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:86133600-86163400	Weak transcription	Fetal Heart	heart
24	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
25	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
26	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:86135600-86145400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:86135600-86146400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:86136400-86146400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:86136400-86147200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:86136600-86147000	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr1:86137000-86146000	Weak transcription	HepG2	liver
34	chr1:86137600-86146600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:86138000-86146400	Strong transcription	Osteobl	bone
36	chr1:86138200-86147200	Strong transcription	Dnd41	blood
37	chr1:86138800-86146600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:86139000-86146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:86139200-86145200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:86140000-86146400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:86140000-86147000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:86140200-86146000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:86140200-86146400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:86140200-86146600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:86140400-86145000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:86140800-86146200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:86141000-86147400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:86141200-86158000	Weak transcription	HSMMtube	muscle
49	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:86141800-86146600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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