Variant report

Variant	rs2014742
Chromosome Location	chr8:118982609-118982610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10955843	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955844	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10955845	0.82[EUR][1000 genomes]
rs10955847	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543161	0.82[EUR][1000 genomes]
rs7834892	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 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	chr8:118969800-118986800	Weak transcription	Lung	lung
2	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
3	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
4	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
5	chr8:118971800-118983200	Weak transcription	Pancreas	Pancrea
6	chr8:118971800-118989000	Weak transcription	Ovary	ovary
7	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:118972200-118989600	Weak transcription	HSMM	muscle
9	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:118974600-118987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:118975400-118983200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:118976600-118991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:118976800-118988600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:118977200-118983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:118979000-118991000	Weak transcription	HepG2	liver
19	chr8:118979200-118988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:118979400-118983000	Weak transcription	NHLF	lung
21	chr8:118979400-118987000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:118980200-118983000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:118981200-118990200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:118981200-118992400	Weak transcription	Left Ventricle	heart
25	chr8:118981600-118983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:118981600-118983400	Genic enhancers	Osteobl	bone
27	chr8:118981600-118983600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:118981600-118983800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:118981600-118983800	Enhancers	Liver	Liver
30	chr8:118981600-118984000	Enhancers	HMEC	breast
31	chr8:118981600-118984200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:118981600-118984800	Enhancers	Dnd41	blood
33	chr8:118981800-118983000	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:118981800-118983200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:118981800-118983200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:118981800-118983200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:118981800-118983200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:118981800-118983200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr8:118981800-118983400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:118981800-118983400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:118981800-118983400	Enhancers	GM12878-XiMat	blood
42	chr8:118981800-118983600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:118981800-118983600	Enhancers	NH-A	brain
44	chr8:118981800-118983800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr8:118981800-118984000	Enhancers	Fetal Thymus	thymus
46	chr8:118981800-118984200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:118981800-118987800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:118981800-118988000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:118982000-118983000	Weak transcription	Colonic Mucosa	Colon
50	chr8:118982000-118983200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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