Variant report

Variant	rs16861279
Chromosome Location	chr2:173993455-173993456
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173985743..173988657-chr2:173992178..173994964,4	K562	blood:
2	chr2:173989210..173991573-chr2:173993201..173996190,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12465665	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12996371	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs16861266	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16861269	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16861295	0.84[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16861304	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs16861323	0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs2053964	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119124	0.88[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs2289395	0.83[EUR][1000 genomes]
rs3769164	0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769166	0.84[JPT][hapmap]
rs3769175	0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs3769176	0.84[CHB][hapmap]
rs3769179	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs3769183	0.85[CHB][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3769190	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769206	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769208	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4632313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56676752	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59935415	0.88[EUR][1000 genomes]
rs61032750	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7566222	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs7571788	0.94[EUR][1000 genomes]
rs7602751	0.95[CHB][hapmap];0.86[ASN][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	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	chr2:173989800-173994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:173989800-173995200	Weak transcription	NHLF	lung
24	chr2:173989800-173995400	Weak transcription	Left Ventricle	heart
25	chr2:173989800-173995400	Weak transcription	Right Atrium	heart
26	chr2:173990000-173994200	Weak transcription	Fetal Heart	heart
27	chr2:173990000-173995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:173990000-173995400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:173990200-173994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:173990200-173994400	Weak transcription	A549	lung
31	chr2:173991800-173995000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:173991800-173995000	Weak transcription	GM12878-XiMat	blood
33	chr2:173991800-173995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:173991800-174000800	Weak transcription	NH-A	brain
36	chr2:173991800-174005200	Weak transcription	K562	blood
37	chr2:173992000-173994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:173992000-173994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:173992000-173994200	Weak transcription	NHDF-Ad	bronchial
40	chr2:173992000-173994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:173992000-173994800	Weak transcription	NHEK	skin
42	chr2:173992000-173995200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:173992000-173995200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:173992000-173995200	Weak transcription	HMEC	breast
45	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:173992000-173999400	Weak transcription	Osteobl	bone
49	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:173992200-173999200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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