Variant report

Variant	rs12677171
Chromosome Location	chr8:99535820-99535821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99531201..99534381-chr8:99534640..99537501,3	K562	blood:
2	chr8:99531565..99534005-chr8:99535385..99538546,3	K562	blood:
3	chr8:99520999..99522850-chr8:99534348..99536217,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10086870	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099978	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100378	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100546	0.87[EUR][1000 genomes]
rs10100577	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10101919	0.91[ASN][1000 genomes]
rs10111264	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10441501	0.81[EUR][1000 genomes]
rs10955176	0.85[EUR][1000 genomes]
rs10955177	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955179	0.81[EUR][1000 genomes]
rs10955180	0.91[ASN][1000 genomes]
rs10955181	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10955184	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955185	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11781352	0.87[EUR][1000 genomes]
rs11985382	0.90[EUR][1000 genomes]
rs11994001	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12056323	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12541026	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542022	0.81[EUR][1000 genomes]
rs12542931	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544768	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547922	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548477	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550198	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13268777	0.88[ASN][1000 genomes]
rs13270534	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1893884	0.83[EUR][1000 genomes]
rs2001728	0.92[EUR][1000 genomes]
rs3802198	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4130753	0.81[EUR][1000 genomes]
rs4301421	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4332102	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4388428	0.81[EUR][1000 genomes]
rs4618666	0.81[EUR][1000 genomes]
rs4734407	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735564	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62532757	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6651181	0.92[ASN][1000 genomes]
rs6985600	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6991043	0.83[EUR][1000 genomes]
rs7011763	0.87[EUR][1000 genomes]
rs7015739	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7815227	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7845395	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845750	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9642951	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
2	chr8:99490400-99547600	Weak transcription	Ovary	ovary
3	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
4	chr8:99503200-99536200	Weak transcription	Liver	Liver
5	chr8:99504600-99536200	Weak transcription	Fetal Lung	lung
6	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
9	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:99519000-99543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
15	chr8:99519600-99536200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:99520600-99536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:99523400-99536800	Weak transcription	NHEK	skin
18	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
19	chr8:99526000-99543200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:99526400-99538800	Weak transcription	K562	blood
22	chr8:99526600-99536200	Weak transcription	Left Ventricle	heart
23	chr8:99527400-99536200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:99527800-99536600	Weak transcription	Dnd41	blood
25	chr8:99529000-99536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:99530200-99536200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:99531000-99569600	Weak transcription	HMEC	breast
28	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:99531400-99536200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:99531400-99543200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:99531400-99586400	Weak transcription	HSMM	muscle
32	chr8:99531600-99540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:99531600-99542800	Weak transcription	Fetal Kidney	kidney
34	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
35	chr8:99531800-99536400	Weak transcription	Adipose Nuclei	Adipose
36	chr8:99532000-99542600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:99532000-99543000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:99532000-99543600	Weak transcription	Psoas Muscle	Psoas
39	chr8:99532000-99548000	Weak transcription	HSMMtube	muscle
40	chr8:99532200-99536200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:99532200-99542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:99533200-99536200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:99533200-99536800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:99533400-99538400	Weak transcription	NHDF-Ad	bronchial
45	chr8:99533400-99543000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:99533400-99566400	Weak transcription	NHLF	lung
47	chr8:99533600-99542800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:99533600-99543000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:99534200-99536000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:99534200-99536000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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