Variant report

Variant	rs11775987
Chromosome Location	chr8:118996494-118996495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11562735	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11562770	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13255959	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13260360	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267449	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17431131	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876779	0.89[EUR][1000 genomes]
rs4876785	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986291	0.87[EUR][1000 genomes]
rs7006696	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830231	0.89[EUR][1000 genomes]
rs9297573	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643119	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650072	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
3	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:118991400-118996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118992800-118999000	Weak transcription	HMEC	breast
8	chr8:118992800-119001400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:118992800-119001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:118993000-118996800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:118993000-118997200	Weak transcription	Small Intestine	intestine
13	chr8:118993200-118997200	Weak transcription	Right Atrium	heart
14	chr8:118993200-118997400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:118993200-118999600	Weak transcription	Esophagus	oesophagus
16	chr8:118993200-119000600	Weak transcription	Right Ventricle	heart
17	chr8:118993200-119000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:118993200-119000800	Weak transcription	Spleen	Spleen
19	chr8:118993200-119001400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
21	chr8:118993400-118996600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:118993400-118997200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:118993400-118997200	Weak transcription	GM12878-XiMat	blood
24	chr8:118993600-118997200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:118993600-118997600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:118993600-119000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:118993600-119001400	Weak transcription	HSMMtube	muscle
28	chr8:118993800-118996800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:118993800-118997600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:118993800-118999000	Weak transcription	Fetal Kidney	kidney
31	chr8:118993800-119000600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:118993800-119001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:118994000-118996800	Weak transcription	Lung	lung
34	chr8:118994000-118997000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:118994000-118999400	Weak transcription	Placenta	Placenta
36	chr8:118994000-119001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:118994000-119001400	Weak transcription	Brain Anterior Caudate	brain
38	chr8:118994000-119001400	Weak transcription	Fetal Intestine Large	intestine
39	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
40	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
41	chr8:118994200-118997200	Weak transcription	Stomach Mucosa	stomach
42	chr8:118994200-118997400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:118994200-119000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:118994200-119000800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
46	chr8:118994400-118996800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:118994400-118996800	Weak transcription	A549	lung
48	chr8:118994400-118999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:118994600-118996800	Weak transcription	HSMM	muscle
50	chr8:118994600-118997200	Weak transcription	Muscle Satellite Cultured Cells	--

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