Variant report

Variant	rs16861278
Chromosome Location	chr2:173992693-173992694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12615166	0.81[ASN][1000 genomes]
rs12986917	0.89[CHB][hapmap]
rs12987496	0.90[CHB][hapmap]
rs12989116	0.90[CHB][hapmap]
rs12997078	0.83[ASN][1000 genomes]
rs12998711	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13008554	0.81[ASN][1000 genomes]
rs13017210	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13020796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13022800	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13029949	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032010	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs16861272	0.88[ASN][1000 genomes]
rs17302977	0.89[CHB][hapmap]
rs17761169	0.91[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs2278883	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289397	0.81[CHB][hapmap]
rs2289399	0.89[CHB][hapmap]
rs34014656	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658268	0.88[ASN][1000 genomes]
rs34681024	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34862313	0.84[EUR][1000 genomes]
rs36103648	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754741	0.89[CHB][hapmap]
rs3754743	0.80[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754744	0.89[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769167	0.90[CHB][hapmap]
rs3769187	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs3769192	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs3769194	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs3769203	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4280429	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4972533	0.89[CHB][hapmap]
rs56151459	0.81[ASN][1000 genomes]
rs6433395	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6741675	0.87[ASN][1000 genomes]
rs67422536	0.87[ASN][1000 genomes]
rs6758025	0.82[YRI][hapmap]
rs67683956	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417423	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905046	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7568360	0.84[YRI][hapmap]

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
4	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
5	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:173984400-173994200	Weak transcription	Gastric	stomach
7	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
8	chr2:173984600-173994800	Weak transcription	Liver	Liver
9	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
10	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:173985400-173995400	Weak transcription	Ovary	ovary
12	chr2:173986000-173995000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:173986800-173995200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:173988000-173999200	Weak transcription	Dnd41	blood
16	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
17	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
18	chr2:173989600-173995400	Weak transcription	Aorta	Aorta
19	chr2:173989600-173995400	Weak transcription	Psoas Muscle	Psoas
20	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
21	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:173989800-173993200	Weak transcription	Esophagus	oesophagus
23	chr2:173989800-173994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:173989800-173995200	Weak transcription	NHLF	lung
25	chr2:173989800-173995400	Weak transcription	Left Ventricle	heart
26	chr2:173989800-173995400	Weak transcription	Right Atrium	heart
27	chr2:173990000-173994200	Weak transcription	Fetal Heart	heart
28	chr2:173990000-173995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:173990000-173995400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:173990200-173993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:173990200-173994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:173990200-173994400	Weak transcription	A549	lung
33	chr2:173991600-173993000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:173991800-173995000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:173991800-173995000	Weak transcription	GM12878-XiMat	blood
36	chr2:173991800-173995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:173991800-174000800	Weak transcription	NH-A	brain
39	chr2:173991800-174005200	Weak transcription	K562	blood
40	chr2:173992000-173994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:173992000-173994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:173992000-173994200	Weak transcription	NHDF-Ad	bronchial
43	chr2:173992000-173994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:173992000-173994800	Weak transcription	NHEK	skin
45	chr2:173992000-173995200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:173992000-173995200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:173992000-173995200	Weak transcription	HMEC	breast
48	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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