Variant report

Variant	rs11984755
Chromosome Location	chr8:119106965-119106966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119105713..119109279-chr8:119110657..119113887,4	K562	blood:
2	chr8:119105713..119109059-chr8:119110657..119113887,3	K562	blood:
3	chr8:119099935..119103110-chr8:119103633..119107379,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10091500	0.81[ASN][1000 genomes]
rs11992017	1.00[CEU][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7826515	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11984755	SNTB1	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:119094400-119110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:119099400-119109800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:119100200-119108400	Genic enhancers	Osteobl	bone
8	chr8:119100400-119110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:119100600-119109800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:119101200-119110000	Weak transcription	Fetal Brain Female	brain
11	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:119102400-119109800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:119102400-119109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:119102400-119110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:119102400-119111200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
20	chr8:119102600-119107000	Weak transcription	Ovary	ovary
21	chr8:119102600-119107000	Weak transcription	A549	lung
22	chr8:119102600-119109000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:119102600-119109800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:119102600-119109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:119102600-119109800	Weak transcription	Pancreas	Pancrea
26	chr8:119102600-119109800	Weak transcription	Hela-S3	cervix
27	chr8:119102600-119110200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:119102600-119110200	Weak transcription	Colonic Mucosa	Colon
29	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
30	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:119102800-119109200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:119102800-119109800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:119102800-119109800	Weak transcription	Esophagus	oesophagus
35	chr8:119102800-119109800	Weak transcription	Right Ventricle	heart
36	chr8:119102800-119110200	Weak transcription	Gastric	stomach
37	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
38	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:119103200-119109800	Weak transcription	Fetal Thymus	thymus
42	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:119103400-119107000	Weak transcription	Left Ventricle	heart
45	chr8:119103400-119109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:119103400-119109800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:119103400-119109800	Weak transcription	Lung	lung
48	chr8:119103400-119109800	Weak transcription	Thymus	Thymus
49	chr8:119103400-119110000	Weak transcription	Spleen	Spleen
50	chr8:119103400-119111200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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