Variant report

Variant	rs12679268
Chromosome Location	chr8:99639380-99639381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10447977	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10755896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755897	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955188	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10955189	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955190	0.85[ASN][1000 genomes]
rs11774463	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775055	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11780292	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11780369	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12542069	0.80[EUR][1000 genomes]
rs12542649	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542758	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12547297	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549803	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12550012	0.88[ASN][1000 genomes]
rs12550783	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675964	0.86[ASN][1000 genomes]
rs12677183	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12679734	0.80[AMR][1000 genomes]
rs12680195	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680490	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12680602	0.87[AMR][1000 genomes]
rs13257475	0.86[ASN][1000 genomes]
rs13258214	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13269932	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271844	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13275915	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13279438	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16897076	0.86[ASN][1000 genomes]
rs34114299	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34281206	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34477118	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34855977	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35447893	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35536167	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4131873	0.85[ASN][1000 genomes]
rs4255105	0.80[AMR][1000 genomes]
rs4279561	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4440607	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4509292	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517094	0.94[ASN][1000 genomes]
rs4541872	0.86[ASN][1000 genomes]
rs4549741	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4612309	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734410	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735568	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4735569	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735570	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735571	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4735574	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57034072	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62532565	0.86[ASN][1000 genomes]
rs62532577	0.80[AMR][1000 genomes]
rs62535381	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62535382	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62535383	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62535404	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62535408	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62535410	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62535412	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6651182	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6992925	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72666669	0.88[ASN][1000 genomes]
rs7816638	0.81[ASN][1000 genomes]
rs7818010	0.81[AMR][1000 genomes]
rs9656842	0.91[AMR][1000 genomes];0.87[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	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99611800-99639800	Weak transcription	Small Intestine	intestine
2	chr8:99621800-99651400	Weak transcription	Left Ventricle	heart
3	chr8:99621800-99663000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:99625400-99643400	Weak transcription	NHEK	skin
5	chr8:99625600-99645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99626600-99642200	Weak transcription	Dnd41	blood
7	chr8:99630000-99662600	Weak transcription	Pancreas	Pancrea
8	chr8:99631800-99645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:99632200-99646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:99632200-99651400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:99633400-99652000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:99633600-99642200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:99633800-99650800	Weak transcription	Right Ventricle	heart
14	chr8:99634000-99643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:99634400-99658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:99635400-99651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:99635600-99641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:99636200-99639400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:99636200-99642200	Weak transcription	Aorta	Aorta
20	chr8:99636200-99642600	Weak transcription	Esophagus	oesophagus
21	chr8:99636200-99649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:99636200-99654000	Weak transcription	Lung	lung
23	chr8:99636200-99662600	Weak transcription	Fetal Intestine Small	intestine
24	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
25	chr8:99636400-99643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:99636400-99643800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:99636400-99647600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:99636400-99659200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:99636600-99643600	Weak transcription	Liver	Liver
30	chr8:99636600-99645400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:99636600-99645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:99636600-99650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:99636600-99651800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:99636600-99662800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:99636800-99639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:99636800-99646400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:99637000-99647000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:99637200-99650200	Weak transcription	Placenta	Placenta
39	chr8:99637400-99656800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:99637600-99640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:99637800-99643400	Weak transcription	Right Atrium	heart
42	chr8:99637800-99645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:99638000-99648200	Weak transcription	HepG2	liver
44	chr8:99638200-99641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:99638200-99652200	Weak transcription	Psoas Muscle	Psoas
46	chr8:99638200-99655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:99638200-99671200	Weak transcription	GM12878-XiMat	blood
48	chr8:99638400-99640000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:99638400-99643200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:99638400-99643200	Weak transcription	Fetal Lung	lung

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