Variant report

Variant	rs9308199
Chromosome Location	chr4:147102862-147102863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10017509	0.84[CEU][hapmap]
rs10519776	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079476	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11100919	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721367	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721873	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722991	0.84[CEU][hapmap]
rs11723069	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11728609	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729787	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730306	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11733347	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734320	0.84[CEU][hapmap]
rs11940961	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs12152657	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152692	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152709	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186313	0.84[CEU][hapmap]
rs17021106	0.83[EUR][1000 genomes]
rs17021186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021217	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021239	0.81[CEU][hapmap]
rs17021241	0.91[CEU][hapmap]
rs17756234	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17757522	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757685	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757715	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758092	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17758396	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758420	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814023	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814065	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814503	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864371	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs1865531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865532	0.83[EUR][1000 genomes]
rs2068009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115796	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115797	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163171	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164280	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420466	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733458	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733459	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733460	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733461	0.84[CEU][hapmap]
rs3756081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756082	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756083	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282199	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835283	0.84[CEU][hapmap]
rs4835284	0.84[CEU][hapmap]
rs4835286	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs55736910	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56279747	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333123	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393662	0.98[ASN][1000 genomes]
rs62326797	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62326801	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62326802	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62326804	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326848	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537401	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537402	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537403	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813969	0.81[CEU][hapmap]
rs6815527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816161	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821066	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821444	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821479	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821863	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824313	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838174	0.83[CEU][hapmap]
rs6838458	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6839123	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839141	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843421	0.81[CEU][hapmap]
rs6844381	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856647	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6858813	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727944	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72727952	0.98[ASN][1000 genomes]
rs7657269	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665079	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919483	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9308199	RP11-6L6.2	cis	Skin Sun Exposed Lower leg	GTEx
rs9308199	RP11-6L6.2	cis	Artery Tibial	GTEx
rs9308199	RP11-6L6.2	cis	Nerve Tibial	GTEx
rs9308199	RP11-6L6.2	cis	Adipose Subcutaneous	GTEx
rs9308199	RP11-6L6.2	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147097600-147108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:147097800-147104200	Weak transcription	Placenta	Placenta
3	chr4:147097800-147104600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:147097800-147108600	Weak transcription	HSMMtube	muscle
5	chr4:147097800-147108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:147097800-147108800	Weak transcription	Esophagus	oesophagus
7	chr4:147097800-147111000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:147098400-147103200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:147098400-147103600	Weak transcription	A549	lung
11	chr4:147098400-147104200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:147098400-147104400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:147098400-147107400	Weak transcription	HSMM	muscle
14	chr4:147098400-147107800	Weak transcription	Fetal Kidney	kidney
15	chr4:147098400-147108000	Weak transcription	NH-A	brain
16	chr4:147098400-147108800	Weak transcription	NHLF	lung
17	chr4:147098400-147111400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
19	chr4:147098600-147103600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:147098600-147103600	Weak transcription	NHDF-Ad	bronchial
21	chr4:147098600-147103800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:147098600-147103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:147098600-147104000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:147098600-147104200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:147098600-147104200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:147098600-147104400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:147098600-147105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:147098600-147107800	Weak transcription	HMEC	breast
29	chr4:147098600-147113800	Weak transcription	Hela-S3	cervix
30	chr4:147099000-147104400	Weak transcription	Fetal Intestine Large	intestine
31	chr4:147099000-147108400	Weak transcription	Aorta	Aorta
32	chr4:147099200-147107400	Weak transcription	Osteobl	bone
33	chr4:147099200-147107600	Weak transcription	Brain Germinal Matrix	brain
34	chr4:147099400-147104200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:147099400-147104200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:147099400-147107800	Weak transcription	Thymus	Thymus
37	chr4:147099400-147108000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:147099400-147108200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:147099400-147109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:147099600-147103800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:147099600-147104400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:147099800-147103600	Weak transcription	K562	blood
43	chr4:147099800-147104200	Weak transcription	Fetal Thymus	thymus
44	chr4:147100000-147103800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:147100000-147103800	Weak transcription	Primary B cells from cord blood	blood
46	chr4:147100000-147107800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:147100200-147107800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:147100200-147108800	Weak transcription	Fetal Stomach	stomach
49	chr4:147100200-147108800	Weak transcription	HUVEC	blood vessel
50	chr4:147101000-147105000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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