Variant report

Variant	rs6992925
Chromosome Location	chr8:99636229-99636230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10096329	0.81[JPT][hapmap]
rs10447977	0.81[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs10755896	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10755897	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10955178	0.81[JPT][hapmap]
rs10955186	0.83[CHB][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10955187	0.83[CHB][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10955188	0.87[AMR][1000 genomes]
rs10955189	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955190	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774463	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11778767	0.86[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs11780292	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11780369	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11780500	0.86[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs11785245	0.86[JPT][hapmap]
rs12114834	0.82[CHB][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs12541317	0.83[YRI][hapmap]
rs12542069	0.81[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap]
rs12542649	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542758	0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs12547297	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs12549803	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12550012	0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12550783	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12675964	0.88[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12677183	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679268	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679734	0.95[MEX][hapmap];0.90[TSI][hapmap]
rs12680195	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs12680602	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13257475	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs13269932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271844	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13275915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13279438	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1476181	0.82[CHB][hapmap]
rs16897076	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2515214	0.82[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs2515216	0.96[GIH][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs34114299	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34366206	0.81[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs34477118	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34855977	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35447893	0.81[AMR][1000 genomes]
rs35798019	0.86[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs4131873	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4255105	0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4279561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4292660	0.89[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs4413739	0.82[CHB][hapmap]
rs4440607	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4442112	0.85[GIH][hapmap]
rs4509292	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4517094	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4541872	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4549741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4562286	0.82[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap]
rs4612309	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734410	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735568	0.81[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4735569	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4735570	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4735571	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735574	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57034072	0.83[ASN][1000 genomes]
rs62532565	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62532577	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62532587	0.83[EUR][1000 genomes]
rs62535381	0.84[AMR][1000 genomes]
rs62535382	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535383	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535404	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62535408	0.96[ASN][1000 genomes]
rs62535410	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62535412	0.94[ASN][1000 genomes]
rs6651182	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988087	0.93[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7016626	0.80[MKK][hapmap];1.00[YRI][hapmap]
rs72666669	0.87[ASN][1000 genomes]
rs7816638	0.82[ASN][1000 genomes]
rs7818010	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7818828	0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs7838239	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7845271	0.89[GIH][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs9656842	0.81[JPT][hapmap];0.90[TSI][hapmap];0.87[AMR][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99606800-99637400	Weak transcription	Ovary	ovary
2	chr8:99611800-99639800	Weak transcription	Small Intestine	intestine
3	chr8:99621800-99651400	Weak transcription	Left Ventricle	heart
4	chr8:99621800-99663000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99625400-99643400	Weak transcription	NHEK	skin
6	chr8:99625600-99638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:99625600-99645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:99626600-99637400	Weak transcription	Fetal Lung	lung
9	chr8:99626600-99642200	Weak transcription	Dnd41	blood
10	chr8:99627200-99637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:99630000-99662600	Weak transcription	Pancreas	Pancrea
12	chr8:99631800-99645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:99632200-99637800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:99632200-99646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:99632200-99651400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:99633400-99637400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:99633400-99652000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:99633600-99642200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:99633800-99650800	Weak transcription	Right Ventricle	heart
20	chr8:99634000-99637800	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:99634000-99643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:99634400-99658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:99634800-99637200	Weak transcription	Thymus	Thymus
24	chr8:99634800-99637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:99635200-99637200	Strong transcription	Placenta	Placenta
26	chr8:99635400-99651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:99635600-99636400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:99635600-99636400	Strong transcription	Fetal Intestine Large	intestine
29	chr8:99635600-99636400	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr8:99635600-99636600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:99635600-99636800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:99635600-99637200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:99635600-99637600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:99635600-99638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:99635600-99641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:99635800-99636400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:99635800-99636400	Strong transcription	Psoas Muscle	Psoas
38	chr8:99635800-99636600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr8:99635800-99636600	Strong transcription	Adipose Nuclei	Adipose
40	chr8:99635800-99636600	Strong transcription	Liver	Liver
41	chr8:99635800-99636600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:99635800-99637000	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:99636000-99636600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr8:99636000-99636800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:99636000-99637400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:99636200-99636400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr8:99636200-99636600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:99636200-99636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:99636200-99637200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:99636200-99637400	Weak transcription	GM12878-XiMat	blood

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