Variant report

Variant	rs7814114
Chromosome Location	chr8:61638953-61638954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61638836..61641055-chr8:61645040..61646971,2	K562	blood:
2	chr8:61625213..61627892-chr8:61636447..61639072,2	K562	blood:
3	chr8:61637532..61640653-chr8:61641197..61643010,3	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10093135	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10103011	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109193	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1038351	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1038352	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038353	0.80[YRI][hapmap]
rs10448027	0.86[EUR][1000 genomes]
rs10808711	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808712	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957154	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10957155	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10957156	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957158	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957161	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11985638	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986742	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11988338	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11990117	0.84[ASN][1000 genomes]
rs11990495	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991467	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11992809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993480	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993490	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11993896	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11995234	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11997122	0.84[ASN][1000 genomes]
rs12544305	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12681737	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13255519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13256023	0.89[YRI][hapmap]
rs13264014	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13269752	0.85[EUR][1000 genomes]
rs13277976	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1384688	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483206	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926407	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1905305	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1964573	0.81[EUR][1000 genomes]
rs2035456	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2035457	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054666	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054667	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128713	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2326598	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28653462	0.89[ASN][1000 genomes]
rs2875984	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237037	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4237038	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4289855	0.86[EUR][1000 genomes]
rs4301480	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4307377	1.00[CHB][hapmap]
rs4391471	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4392940	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4449834	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs4500113	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4526395	1.00[CHB][hapmap]
rs4540437	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4562360	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4581092	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737563	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737565	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738815	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4738818	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4738820	0.90[EUR][1000 genomes]
rs4738821	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738822	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738824	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738827	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4738831	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs4738832	1.00[CHB][hapmap]
rs6471894	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471896	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471897	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471901	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471902	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471903	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471905	1.00[CHB][hapmap]
rs6982898	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6988582	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6994180	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6995557	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6996597	0.82[EUR][1000 genomes]
rs6996775	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6997208	0.82[EUR][1000 genomes]
rs6997222	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7000766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000957	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002806	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005873	1.00[CHB][hapmap]
rs7009754	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011972	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7012450	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016832	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7017676	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs730085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816126	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816621	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7823484	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826035	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7834076	0.85[EUR][1000 genomes]
rs7834977	0.88[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836586	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838426	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840098	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7842389	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842498	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843033	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845701	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7846065	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900502	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9298040	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9298042	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9643371	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650201	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
4	chr8:61634400-61643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:61634400-61643400	Weak transcription	HepG2	liver
6	chr8:61634800-61640400	Weak transcription	Left Ventricle	heart
7	chr8:61634800-61647000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:61635600-61639000	Enhancers	Brain Substantia Nigra	brain
10	chr8:61635600-61641200	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:61636200-61640000	Enhancers	Primary B cells from cord blood	blood
12	chr8:61636400-61639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:61636400-61639800	Enhancers	Fetal Heart	heart
14	chr8:61636600-61641000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:61636800-61640800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:61636800-61644400	Weak transcription	Fetal Brain Female	brain
17	chr8:61636800-61644400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:61637000-61644200	Weak transcription	Brain Germinal Matrix	brain
19	chr8:61637000-61648600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:61637000-61648600	Weak transcription	HSMM	muscle
21	chr8:61637000-61651200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
23	chr8:61637200-61640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:61637400-61639400	Enhancers	GM12878-XiMat	blood
25	chr8:61637600-61639000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:61637600-61644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:61637800-61639600	Enhancers	Small Intestine	intestine
28	chr8:61637800-61643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:61637800-61644400	Weak transcription	Brain Anterior Caudate	brain
30	chr8:61637800-61647600	Weak transcription	K562	blood
31	chr8:61638000-61644400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:61638200-61639600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:61638400-61639200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:61638400-61643600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:61638400-61643800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:61638400-61645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:61638400-61648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:61638600-61639200	Weak transcription	A549	lung
39	chr8:61638600-61640600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:61638600-61642000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:61638600-61643400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:61638600-61643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:61638600-61643600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:61638600-61643800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:61638600-61644000	Weak transcription	Primary T cells from cord blood	blood
46	chr8:61638600-61644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:61638600-61644400	Weak transcription	Right Atrium	heart
48	chr8:61638600-61644800	Weak transcription	Lung	lung
49	chr8:61638600-61644800	Weak transcription	Pancreas	Pancrea
50	chr8:61638600-61648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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