Variant report

Variant	rs11775514
Chromosome Location	chr8:48287510-48287511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48287238..48289798-chr8:48645955..48647701,2	MCF-7	breast:
2	chr8:48286201..48287772-chr8:48290885..48293117,2	MCF-7	breast:
3	chr8:48274508..48277546-chr8:48285715..48288679,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1038797	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808752	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10957074	0.91[EUR][1000 genomes]
rs11774001	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775628	0.85[EUR][1000 genomes]
rs11781727	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11782728	0.84[AMR][1000 genomes]
rs11783141	0.89[EUR][1000 genomes]
rs11785228	0.91[EUR][1000 genomes]
rs12541086	0.86[EUR][1000 genomes]
rs12543823	0.89[EUR][1000 genomes]
rs12547513	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12680669	0.89[EUR][1000 genomes]
rs12682269	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13259913	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2087656	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2130879	0.87[EUR][1000 genomes]
rs2172121	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2362554	0.90[EUR][1000 genomes]
rs34099416	0.91[EUR][1000 genomes]
rs35045730	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4498545	0.86[EUR][1000 genomes]
rs4873102	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873106	0.91[EUR][1000 genomes]
rs4873293	0.88[EUR][1000 genomes]
rs6472229	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981790	0.90[EUR][1000 genomes]
rs6990123	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6994218	0.88[EUR][1000 genomes]
rs7012341	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7826284	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839134	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs902619	0.91[EUR][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	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:48266800-48290200	Weak transcription	HSMMtube	muscle
6	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:48267000-48295400	Weak transcription	HSMM	muscle
8	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:48279000-48291800	Weak transcription	Esophagus	oesophagus
11	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
12	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:48279200-48290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:48280400-48289800	Weak transcription	Small Intestine	intestine
15	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
16	chr8:48281600-48291600	Weak transcription	Fetal Thymus	thymus
17	chr8:48282200-48288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:48282200-48290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:48282400-48290000	Weak transcription	NHEK	skin
23	chr8:48282400-48291400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:48282400-48300200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:48282600-48290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:48282800-48289800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:48282800-48289800	Weak transcription	GM12878-XiMat	blood
29	chr8:48282800-48290000	Weak transcription	HMEC	breast
30	chr8:48282800-48292800	Weak transcription	Psoas Muscle	Psoas
31	chr8:48282800-48299800	Weak transcription	Dnd41	blood
32	chr8:48283000-48288600	Weak transcription	Fetal Lung	lung
33	chr8:48283000-48288800	Weak transcription	Fetal Intestine Small	intestine
34	chr8:48283600-48288800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:48283600-48297200	Weak transcription	Right Atrium	heart
36	chr8:48283800-48300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:48284000-48290200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:48284000-48291600	Weak transcription	Lung	lung
39	chr8:48284000-48300400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:48284200-48288200	Weak transcription	HepG2	liver
41	chr8:48284200-48288600	Weak transcription	Liver	Liver
42	chr8:48284200-48289400	Weak transcription	Fetal Intestine Large	intestine
43	chr8:48284200-48290000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:48284200-48300200	Weak transcription	Primary B cells from cord blood	blood
45	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:48284600-48290000	Weak transcription	Hela-S3	cervix
47	chr8:48284600-48296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:48284800-48289800	Weak transcription	A549	lung
49	chr8:48285600-48288200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:48285600-48288800	Weak transcription	Primary monocytes fromperipheralblood	blood

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