Variant report

Variant	rs10091952
Chromosome Location	chr8:59544413-59544414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59528229..59531083-chr8:59543885..59546434,2	K562	blood:
2	chr8:59542387..59544626-chr8:59555103..59557426,2	K562	blood:
3	chr8:59543664..59545939-chr8:59554481..59557074,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10087843	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10088541	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10090212	0.98[ASN][1000 genomes]
rs10090837	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10094910	0.81[EUR][1000 genomes]
rs10102709	0.81[TSI][hapmap]
rs10104292	0.83[CEU][hapmap]
rs10107530	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10111052	0.81[EUR][1000 genomes]
rs10111180	0.86[ASW][hapmap];0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs10112330	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10113323	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113667	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10113830	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504256	0.83[CEU][hapmap]
rs1050488	0.86[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes]
rs1050504	0.86[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs10957063	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774558	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11774998	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782455	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11785141	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11985566	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994921	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12171670	0.98[ASN][1000 genomes]
rs12674568	0.81[TSI][hapmap]
rs12674724	0.91[EUR][1000 genomes]
rs12677290	0.83[CEU][hapmap]
rs12679938	0.95[CEU][hapmap];0.84[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1352496	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1387222	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.98[ASN][1000 genomes]
rs16923594	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs16923637	0.86[ASN][1000 genomes]
rs17206746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272151	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976162	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2130072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279460	0.83[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2279462	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs28429099	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489122	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28711402	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28755983	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28886919	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3816846	0.83[CEU][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4266636	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4579515	0.83[CEU][hapmap]
rs4598239	0.87[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56249776	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60567264	0.88[ASN][1000 genomes]
rs6471732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6985643	0.89[GIH][hapmap]
rs6995115	0.83[CEU][hapmap]
rs6998210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7006937	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7011066	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72647437	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72647443	0.88[AMR][1000 genomes]
rs72647451	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7825739	0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7826122	0.83[CEU][hapmap]
rs7833791	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844231	0.83[CEU][hapmap]
rs9297998	0.83[CEU][hapmap]
rs9297999	0.86[MEX][hapmap];0.90[TSI][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10091952	RAB2A	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
3	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
4	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:59507600-59545400	Weak transcription	Gastric	stomach
6	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
8	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
11	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:59520600-59554600	Weak transcription	HMEC	breast
13	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:59522200-59545200	Weak transcription	Spleen	Spleen
15	chr8:59524200-59554400	Weak transcription	NHEK	skin
16	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:59532000-59545600	Weak transcription	NHDF-Ad	bronchial
18	chr8:59533800-59553000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:59535800-59546800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:59535800-59552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
23	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
24	chr8:59539000-59544600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:59539600-59550800	Weak transcription	A549	lung
26	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:59541200-59553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
29	chr8:59541400-59555200	Strong transcription	Dnd41	blood
30	chr8:59541600-59546800	Strong transcription	Fetal Intestine Large	intestine
31	chr8:59541600-59547400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:59541600-59547600	Strong transcription	Primary T cells from cord blood	blood
33	chr8:59541600-59559400	Weak transcription	HepG2	liver
34	chr8:59541800-59552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:59542000-59551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:59542000-59553400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:59542200-59546400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr8:59542200-59547600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:59542200-59548200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:59542400-59547400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:59542400-59555400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:59542600-59546200	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:59542600-59547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:59542600-59554200	Weak transcription	NHLF	lung
45	chr8:59542800-59544600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:59542800-59544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:59542800-59554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
49	chr8:59543000-59545400	Weak transcription	Brain Anterior Caudate	brain
50	chr8:59543000-59545400	Weak transcription	HUVEC	blood vessel

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