Variant report

Variant	rs3847623
Chromosome Location	chr11:35394834-35394835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:35394414-35395647	SK-N-SH	brain:	n/a	chr11:35395217-35395227
2	TCF12	chr11:35394338-35395630	SK-N-SH	brain:	n/a	chr11:35395002-35395012 chr11:35394807-35394817 chr11:35395161-35395171

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35387503..35389953-chr11:35393372..35395459,2	MCF-7	breast:
2	chr11:34935756..34938190-chr11:35393075..35395450,2	K562	blood:

Variant related genes	Relation type
ENSG00000215380	TF binding region
ENSG00000110435	Chromatin interaction
ENSG00000149089	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11033104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1923300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs911562	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv430372	chr11:35376124-35430324	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3847623	ANG	trans	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35386400-35398600	Weak transcription	Fetal Brain Female	brain
2	chr11:35389000-35406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:35389200-35408600	Weak transcription	Aorta	Aorta
4	chr11:35389800-35398400	Weak transcription	NHLF	lung
5	chr11:35389800-35398400	Weak transcription	Osteobl	bone
6	chr11:35390400-35401800	Weak transcription	Right Atrium	heart
7	chr11:35390600-35399000	Weak transcription	Brain Substantia Nigra	brain
8	chr11:35390600-35401800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:35390800-35395000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:35391000-35395000	Weak transcription	Fetal Heart	heart
11	chr11:35392400-35395400	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:35392400-35402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:35392800-35395000	Enhancers	Pancreas	Pancrea
14	chr11:35393200-35398400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:35393600-35395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:35393800-35395400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:35393800-35396200	Enhancers	Hela-S3	cervix
18	chr11:35394000-35395000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:35394400-35395000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:35394400-35395600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:35394400-35395600	Enhancers	NHDF-Ad	bronchial
22	chr11:35394400-35395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:35394600-35395000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr11:35394600-35395200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:35394600-35395200	Genic enhancers	Brain Anterior Caudate	brain
26	chr11:35394600-35395200	Enhancers	Brain Hippocampus Middle	brain
27	chr11:35394600-35395200	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:35394600-35395400	Enhancers	Gastric	stomach
29	chr11:35394600-35395400	Enhancers	Right Ventricle	heart
30	chr11:35394600-35395400	Enhancers	GM12878-XiMat	blood
31	chr11:35394600-35395600	Enhancers	Psoas Muscle	Psoas
32	chr11:35394600-35395600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:35394600-35395600	Enhancers	HepG2	liver
34	chr11:35394600-35396000	Enhancers	Left Ventricle	heart
35	chr11:35394800-35395000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:35394800-35395000	Enhancers	A549	lung
37	chr11:35394800-35395200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:35394800-35395200	Enhancers	Fetal Intestine Small	intestine
39	chr11:35394800-35395200	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:35394800-35395400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:35394800-35395400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:35394800-35395400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:35394800-35395400	Enhancers	Lung	lung
44	chr11:35394800-35395400	Enhancers	Stomach Mucosa	stomach

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