Variant report

Variant	rs347931
Chromosome Location	chr15:33185277-33185278
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	chr15:33185128-33185324	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000238342	TF binding region
FMN1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12591087	0.95[JPT][hapmap]
rs12595789	0.91[JPT][hapmap]
rs1562928	0.82[JPT][hapmap]
rs1562929	0.81[JPT][hapmap]
rs1562933	0.82[JPT][hapmap]
rs17228887	0.95[JPT][hapmap]
rs173224	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs347935	0.84[EUR][1000 genomes]
rs534755	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165427	0.83[JPT][hapmap]
rs8027615	0.84[CHD][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs347931	ARHGAP11B	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
2	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:33147000-33191400	Weak transcription	Lung	lung
4	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:33154400-33192800	Weak transcription	Colonic Mucosa	Colon
6	chr15:33154400-33216800	Weak transcription	Fetal Thymus	thymus
7	chr15:33155000-33208200	Weak transcription	Fetal Kidney	kidney
8	chr15:33160000-33201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:33162200-33202400	Weak transcription	Gastric	stomach
10	chr15:33166000-33202400	Weak transcription	Pancreas	Pancrea
11	chr15:33166200-33211800	Weak transcription	HSMMtube	muscle
12	chr15:33170600-33186800	Weak transcription	Spleen	Spleen
13	chr15:33170800-33196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:33170800-33200400	Weak transcription	NH-A	brain
15	chr15:33178000-33190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:33178400-33190400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:33178800-33197600	Weak transcription	Osteobl	bone
18	chr15:33179000-33198000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:33179200-33185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:33180600-33196600	Weak transcription	Placenta	Placenta
21	chr15:33181600-33190600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:33181800-33198800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:33181800-33201000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:33182000-33200600	Weak transcription	Fetal Stomach	stomach
25	chr15:33183600-33195000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:33185000-33185400	Strong transcription	NHLF	lung
27	chr15:33185000-33186000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:33185200-33185600	Strong transcription	HSMM	muscle
29	chr15:33185200-33185800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:33185200-33186200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:33185200-33186200	Enhancers	NHDF-Ad	bronchial

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