Variant report

Variant	rs9914929
Chromosome Location	chr17:34080065-34080066
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	POLR2A	chr17:34079503-34080728	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:34079887..34082780-chr17:34083495..34086250,2	K562	blood:
2	chr17:34078012..34080285-chr17:34084342..34085886,2	K562	blood:
3	chr17:34079919..34081431-chr17:34087910..34089599,2	K562	blood:
4	chr17:34076253..34080125-chr17:34136044..34138014,4	K562	blood:
5	chr17:34078942..34081571-chr17:34136268..34137970,2	MCF-7	breast:

Variant related genes	Relation type
GAS2L2	TF binding region
ENSG00000172660	Chromatin interaction
ENSG00000154768	Chromatin interaction
ENSG00000266911	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10451309	0.85[MEX][hapmap];0.87[TSI][hapmap]
rs1065341	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs11080356	1.00[JPT][hapmap]
rs16963927	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs16971600	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs16971620	1.00[CEU][hapmap]
rs16971624	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs17550632	1.00[JPT][hapmap]
rs17550716	1.00[JPT][hapmap]
rs17638867	1.00[JPT][hapmap]
rs2011897	1.00[JPT][hapmap]
rs225244	1.00[JPT][hapmap]
rs225246	1.00[JPT][hapmap]
rs225268	1.00[JPT][hapmap]
rs225276	1.00[JPT][hapmap]
rs225278	1.00[JPT][hapmap]
rs225279	1.00[JPT][hapmap]
rs225285	1.00[JPT][hapmap]
rs226089	1.00[JPT][hapmap]
rs226090	1.00[JPT][hapmap]
rs2735482	1.00[CEU][hapmap]
rs4251704	0.85[MEX][hapmap];0.87[TSI][hapmap]
rs4251710	0.85[MEX][hapmap];0.87[TSI][hapmap]
rs4251744	0.89[EUR][1000 genomes]
rs4251776	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs4795086	1.00[JPT][hapmap]
rs4796098	1.00[JPT][hapmap]
rs7209512	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7211724	1.00[JPT][hapmap]
rs8073456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9649	1.00[JPT][hapmap]
rs965984	1.00[CEU][hapmap]
rs9674851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896368	0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9898128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34079000-34081000	Enhancers	Adipose Nuclei	Adipose
2	chr17:34079400-34080200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr17:34079400-34080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:34079400-34080200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:34079400-34080200	Bivalent Enhancer	Colonic Mucosa	Colon
6	chr17:34079400-34080200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
7	chr17:34079400-34080200	Enhancers	Esophagus	oesophagus
8	chr17:34079400-34080200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr17:34079400-34080200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr17:34079400-34080200	Enhancers	Psoas Muscle	Psoas
11	chr17:34079400-34080200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr17:34079400-34080200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:34079400-34080400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:34079400-34080400	Enhancers	Lung	lung
15	chr17:34079400-34080400	Enhancers	Pancreas	Pancrea
16	chr17:34079400-34080400	Enhancers	Right Atrium	heart
17	chr17:34079400-34080600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:34079400-34080600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr17:34079600-34080200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:34079600-34080200	Enhancers	Colon Smooth Muscle	Colon
21	chr17:34079600-34080200	Enhancers	Gastric	stomach
22	chr17:34079600-34080200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr17:34079600-34080400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr17:34079600-34080400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr17:34079600-34080400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:34079600-34080400	Enhancers	Left Ventricle	heart
27	chr17:34079600-34080400	Bivalent/Poised TSS	HepG2	liver
28	chr17:34079800-34080200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:34079800-34080200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:34079800-34080200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:34079800-34080200	Enhancers	HSMM	muscle
32	chr17:34079800-34080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:34079800-34080400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:34079800-34080400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr17:34079800-34080400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr17:34079800-34080400	Enhancers	Right Ventricle	heart
37	chr17:34079800-34080600	Enhancers	HSMMtube	muscle
38	chr17:34080000-34080200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:34080000-34080200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:34080000-34080200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:34080000-34080200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr17:34080000-34080400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:34080000-34080400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr17:34080000-34080600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:34080000-34080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:34080000-34080600	Enhancers	Skeletal Muscle Female	skeletal muscle

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