Variant report

Variant	rs7016626
Chromosome Location	chr8:99554231-99554232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99542296..99548423-chr8:99550336..99556395,6	K562	blood:
2	chr8:99545068..99548423-chr8:99550336..99555475,4	K562	blood:
3	chr8:99548557..99552364-chr8:99553180..99556021,3	MCF-7	breast:
4	chr8:99548500..99551679-chr8:99552322..99555998,3	K562	blood:
5	chr8:99536690..99539147-chr8:99552855..99554572,2	K562	blood:
6	chr8:99552951..99554839-chr8:99564123..99567093,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10086870	0.83[JPT][hapmap]
rs10100346	0.81[JPT][hapmap]
rs10101919	0.83[JPT][hapmap]
rs10755896	0.94[YRI][hapmap]
rs10955177	0.83[JPT][hapmap]
rs10955178	0.82[JPT][hapmap]
rs10955180	0.83[JPT][hapmap]
rs10955181	0.83[JPT][hapmap]
rs10955185	0.83[JPT][hapmap]
rs10955186	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10955187	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10955188	0.85[ASN][1000 genomes]
rs10955190	0.83[YRI][hapmap]
rs12541026	0.86[JPT][hapmap]
rs12542022	1.00[JPT][hapmap]
rs12542069	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12542758	0.87[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs12542931	0.83[JPT][hapmap]
rs12544768	0.83[JPT][hapmap]
rs12547922	0.83[JPT][hapmap]
rs12548477	0.83[JPT][hapmap]
rs12550198	0.83[JPT][hapmap]
rs12550783	0.83[LWK][hapmap];0.94[YRI][hapmap]
rs12677183	0.83[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12680490	0.87[ASN][1000 genomes]
rs12680602	0.85[ASN][1000 genomes]
rs13257475	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13258214	0.87[ASN][1000 genomes]
rs13269932	0.86[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs16892236	0.87[JPT][hapmap]
rs16897061	1.00[JPT][hapmap]
rs16897076	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34114299	0.83[LWK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs3802198	0.83[JPT][hapmap]
rs4301421	0.83[JPT][hapmap]
rs4332102	0.81[JPT][hapmap]
rs4370499	1.00[JPT][hapmap]
rs4442112	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4509292	0.94[YRI][hapmap]
rs4734407	0.83[JPT][hapmap]
rs4734410	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs4735568	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs4735570	0.83[LWK][hapmap];0.94[YRI][hapmap]
rs62535381	0.85[ASN][1000 genomes]
rs62535382	0.84[ASN][1000 genomes]
rs62535383	0.84[ASN][1000 genomes]
rs6651181	0.82[JPT][hapmap]
rs6992925	0.80[MKK][hapmap];1.00[YRI][hapmap]
rs7015739	0.83[JPT][hapmap]
rs7815227	0.83[JPT][hapmap]
rs7816638	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7818010	0.91[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7845395	0.83[JPT][hapmap]
rs9656842	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv611808	chr8:99544765-99591736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7016626	OSR2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
2	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
3	chr8:99531000-99569600	Weak transcription	HMEC	breast
4	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:99531400-99586400	Weak transcription	HSMM	muscle
6	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
7	chr8:99533400-99566400	Weak transcription	NHLF	lung
8	chr8:99534600-99567200	Weak transcription	A549	lung
9	chr8:99535400-99571600	Weak transcription	Gastric	stomach
10	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:99543800-99555000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:99544000-99559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:99544000-99560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:99544200-99558800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:99544200-99559400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:99544600-99556000	Weak transcription	Left Ventricle	heart
18	chr8:99544600-99560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:99544800-99554800	Weak transcription	Lung	lung
21	chr8:99545000-99554800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:99546000-99571600	Weak transcription	Fetal Intestine Small	intestine
23	chr8:99546400-99557000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:99546600-99555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:99546600-99576400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:99548400-99560800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:99548600-99557400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:99548600-99558800	Weak transcription	HSMMtube	muscle
29	chr8:99548600-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:99548800-99563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:99549600-99557400	Weak transcription	Osteobl	bone
32	chr8:99549800-99568200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:99550000-99557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:99550000-99558200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:99550800-99560200	Weak transcription	Right Ventricle	heart
36	chr8:99551000-99557800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:99551200-99558800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:99551200-99559400	Weak transcription	Small Intestine	intestine
39	chr8:99551200-99560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:99551200-99561800	Weak transcription	Brain Angular Gyrus	brain
41	chr8:99551400-99566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:99551600-99557000	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:99551600-99557200	Weak transcription	NHDF-Ad	bronchial
44	chr8:99551800-99557400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:99551800-99562000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:99552000-99572600	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:99552200-99554800	Enhancers	Dnd41	blood
48	chr8:99552200-99555600	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:99552200-99556200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:99552400-99554400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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