Variant report

Variant	rs2303309
Chromosome Location	chr15:34152756-34152757
allele	A/C
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	BACH1	chr15:34152601-34152801	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr15:34152738-34153692	SK-N-SH	brain:	n/a	chr15:34153260-34153271

Variant related genes	Relation type
ENSG00000259408	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10459652	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10519888	1.00[TSI][hapmap]
rs12591066	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12594520	0.88[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16958595	1.00[ASW][hapmap]
rs2241648	0.84[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2278312	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2303868	0.84[CHB][hapmap]
rs2303870	0.93[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2879426	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs891344	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34121400-34158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:34130800-34158600	Weak transcription	Brain Germinal Matrix	brain
3	chr15:34137400-34164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:34139800-34156400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:34139800-34164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:34142400-34168600	Weak transcription	Esophagus	oesophagus
7	chr15:34143000-34165000	Weak transcription	Psoas Muscle	Psoas
8	chr15:34143400-34160400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:34143600-34164200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:34143800-34156200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:34145000-34158200	Weak transcription	Gastric	stomach
12	chr15:34145000-34161200	Weak transcription	Small Intestine	intestine
13	chr15:34145400-34152800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:34145400-34156600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:34145600-34154200	Strong transcription	Fetal Muscle Leg	muscle
16	chr15:34145600-34158200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:34145600-34158600	Weak transcription	HSMM	muscle
18	chr15:34145800-34152800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:34145800-34152800	Weak transcription	Osteobl	bone
20	chr15:34145800-34153000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:34145800-34158400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:34146200-34153800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:34146400-34153200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:34146400-34158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:34146600-34153600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:34146800-34152800	Weak transcription	Hela-S3	cervix
27	chr15:34146800-34164000	Weak transcription	Right Ventricle	heart
28	chr15:34147200-34162400	Weak transcription	Pancreas	Pancrea
29	chr15:34147400-34164200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:34147600-34153000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:34148000-34153000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:34148400-34156600	Weak transcription	GM12878-XiMat	blood
33	chr15:34148600-34155600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:34148600-34158400	Weak transcription	Ovary	ovary
35	chr15:34148600-34159400	Weak transcription	Lung	lung
36	chr15:34148800-34153000	Weak transcription	NHDF-Ad	bronchial
37	chr15:34149400-34155400	Strong transcription	Fetal Stomach	stomach
38	chr15:34149400-34156200	Weak transcription	Primary B cells from cord blood	blood
39	chr15:34149400-34165800	Weak transcription	Fetal Intestine Small	intestine
40	chr15:34149600-34157000	Weak transcription	Fetal Intestine Large	intestine
41	chr15:34149600-34158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:34150200-34164000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:34150200-34164000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:34150800-34153200	Strong transcription	Left Ventricle	heart
45	chr15:34150800-34167400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:34151000-34154000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:34151200-34153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:34151200-34157200	Strong transcription	Aorta	Aorta
49	chr15:34151400-34156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:34151400-34158200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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