Variant report

Variant	rs1405686
Chromosome Location	chr4:101979867-101979868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10009613	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10019685	0.86[ASN][1000 genomes]
rs1042094	0.90[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1880942	0.86[MEX][hapmap]
rs2141145	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178006	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251238	0.83[JPT][hapmap]
rs2695189	0.81[ASN][1000 genomes]
rs2695190	0.81[ASN][1000 genomes]
rs2695203	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695204	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2695205	0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2732496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2732497	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732504	0.82[MEX][hapmap]
rs2732519	0.82[CHB][hapmap]
rs2851060	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2851061	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2851062	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]
rs2851063	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3804350	0.83[JPT][hapmap]
rs3804351	0.86[ASN][1000 genomes]
rs3804353	0.91[ASN][1000 genomes]
rs60223015	0.86[ASN][1000 genomes]
rs6833324	0.82[JPT][hapmap]
rs72927395	0.80[ASN][1000 genomes]
rs9884444	0.89[ASN][1000 genomes]
rs997926	0.83[JPT][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
6	chr4:101944400-101981200	Weak transcription	Pancreas	Pancrea
7	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
8	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:101953600-101983800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:101953600-101992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:101958400-101981200	Weak transcription	Aorta	Aorta
13	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:101959400-101981400	Weak transcription	HMEC	breast
15	chr4:101959600-101984400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:101959600-101986800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:101959600-101990600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:101959600-102003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:101960800-101995000	Weak transcription	HSMM	muscle
20	chr4:101960800-102004000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:101960800-102004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:101961000-101980800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:101961000-101982600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:101961000-102024600	Weak transcription	NHEK	skin
26	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
27	chr4:101961400-101981000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:101961600-101995200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:101962200-101981400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:101962200-102000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:101964200-101987800	Weak transcription	HSMMtube	muscle
32	chr4:101966600-101980800	Weak transcription	Adipose Nuclei	Adipose
33	chr4:101966600-101981000	Weak transcription	Dnd41	blood
34	chr4:101966600-102003000	Weak transcription	Primary T cells from cord blood	blood
35	chr4:101966600-102007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:101966800-101982200	Weak transcription	NH-A	brain
37	chr4:101966800-101992200	Weak transcription	Ovary	ovary
38	chr4:101966800-102007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:101971000-101986000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:101971800-101986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:101971800-102000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:101972200-101985800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:101972200-101989000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:101973400-101988200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:101976600-101988000	Weak transcription	Brain Angular Gyrus	brain
46	chr4:101976600-101988200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:101977400-101984800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:101977400-101988400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:101977600-101983600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:101977800-101980400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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