Variant report

Variant	rs11987653
Chromosome Location	chr8:118997413-118997414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10808490	1.00[YRI][hapmap]
rs17476191	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476875	1.00[EUR][1000 genomes]
rs17477049	1.00[EUR][1000 genomes]
rs17477133	1.00[EUR][1000 genomes]
rs17505016	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17505030	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17505037	1.00[EUR][1000 genomes]
rs17505079	1.00[EUR][1000 genomes]
rs17506044	1.00[EUR][1000 genomes]
rs58461375	1.00[EUR][1000 genomes]
rs73327854	1.00[EUR][1000 genomes]
rs7839261	1.00[EUR][1000 genomes]
rs7845466	1.00[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	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
2	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:118992800-118999000	Weak transcription	HMEC	breast
6	chr8:118992800-119001400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:118992800-119001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:118993200-118999600	Weak transcription	Esophagus	oesophagus
10	chr8:118993200-119000600	Weak transcription	Right Ventricle	heart
11	chr8:118993200-119000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:118993200-119000800	Weak transcription	Spleen	Spleen
13	chr8:118993200-119001400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
15	chr8:118993600-118997600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:118993600-119000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:118993600-119001400	Weak transcription	HSMMtube	muscle
18	chr8:118993800-118997600	Weak transcription	Adipose Nuclei	Adipose
19	chr8:118993800-118999000	Weak transcription	Fetal Kidney	kidney
20	chr8:118993800-119000600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:118993800-119001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:118994000-118999400	Weak transcription	Placenta	Placenta
23	chr8:118994000-119001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:118994000-119001400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:118994000-119001400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
27	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
28	chr8:118994200-119000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:118994200-119000800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
31	chr8:118994400-118999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:118994600-118998800	Weak transcription	NHEK	skin
33	chr8:118994600-118999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:118994600-119001400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:118994600-119001800	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:118994600-119002000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:118994800-118999600	Weak transcription	Left Ventricle	heart
38	chr8:118995400-118997800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:118995600-118998000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:118995600-119000800	Enhancers	Liver	Liver
41	chr8:118996200-118997800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr8:118996200-118997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118996200-118997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:118996200-118998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:118996400-119000200	Weak transcription	Ovary	ovary
46	chr8:118996600-118997600	Genic enhancers	NHLF	lung
47	chr8:118996600-119001200	Enhancers	HepG2	liver
48	chr8:118996800-118997800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:118996800-118997800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:118996800-118997800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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