Variant report

Variant	rs7814617
Chromosome Location	chr8:100048341-100048342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10094807	0.81[YRI][hapmap]
rs10955194	0.81[YRI][hapmap]
rs10955196	0.81[YRI][hapmap]
rs11984531	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985354	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985377	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986652	0.83[ASN][1000 genomes]
rs11987297	0.83[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[LWK][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs11987308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987800	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988364	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988987	0.81[YRI][hapmap]
rs11989082	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989805	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990131	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11990888	0.88[ASN][1000 genomes]
rs11993237	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995289	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997079	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997495	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998168	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11998245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1447244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897132	0.97[ASN][1000 genomes]
rs34930351	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35082816	0.87[ASN][1000 genomes]
rs35318343	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35755686	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4374957	0.81[YRI][hapmap]
rs4501558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4510823	0.81[YRI][hapmap]
rs4585717	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612311	0.81[YRI][hapmap]
rs4734419	0.81[YRI][hapmap]
rs4734420	0.81[YRI][hapmap]
rs4734422	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734423	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734426	0.81[YRI][hapmap]
rs4734427	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734428	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735583	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735584	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735587	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735589	0.81[YRI][hapmap]
rs4735590	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735592	0.81[YRI][hapmap]
rs4735593	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735595	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735596	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735605	0.88[ASN][1000 genomes]
rs4735606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5019794	0.81[YRI][hapmap]
rs57231976	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468664	0.81[YRI][hapmap]
rs6468668	0.81[YRI][hapmap]
rs6651157	0.81[YRI][hapmap]
rs7012513	0.81[YRI][hapmap]
rs72672316	0.88[ASN][1000 genomes]
rs72672328	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72672329	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72672337	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72672342	0.83[ASN][1000 genomes]
rs745721	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461615	0.81[YRI][hapmap]
rs7814088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814120	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818037	0.81[YRI][hapmap]
rs7818738	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7819606	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824113	0.81[YRI][hapmap]
rs7829389	0.84[ASN][1000 genomes]
rs7832595	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:100027200-100057000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:100028600-100053000	Weak transcription	Hela-S3	cervix
4	chr8:100029600-100086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:100032200-100051600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:100032200-100084000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:100032400-100077800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:100032600-100086200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:100033200-100048800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:100033400-100051200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:100036800-100057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:100036800-100068400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:100037000-100048800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:100037000-100051200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:100037000-100056800	Weak transcription	Fetal Kidney	kidney
16	chr8:100037200-100056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:100040600-100086800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:100044200-100059400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:100044400-100050000	Weak transcription	Psoas Muscle	Psoas
20	chr8:100044400-100057200	Weak transcription	Liver	Liver
21	chr8:100044400-100057200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:100044400-100058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:100044400-100061800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:100044400-100066400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:100044400-100067400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:100044400-100083600	Weak transcription	Aorta	Aorta
27	chr8:100044400-100083800	Weak transcription	Left Ventricle	heart
28	chr8:100044600-100048400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:100044600-100050600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:100044600-100051800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:100044600-100057000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:100044600-100057200	Weak transcription	Fetal Lung	lung
33	chr8:100044600-100077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:100045000-100075400	Weak transcription	Thymus	Thymus
35	chr8:100045200-100060800	Weak transcription	Fetal Stomach	stomach
36	chr8:100045400-100058600	Weak transcription	Adipose Nuclei	Adipose
37	chr8:100045400-100061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:100045400-100065800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:100045400-100068000	Weak transcription	Fetal Thymus	thymus
40	chr8:100045600-100051800	Weak transcription	Dnd41	blood
41	chr8:100045800-100048800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:100045800-100049000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:100045800-100051200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:100046000-100050600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:100046000-100050800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:100046400-100050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:100046400-100052200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:100046400-100057000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:100047000-100048800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:100047000-100048800	Weak transcription	A549	lung

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