Variant report

Variant	rs10119172
Chromosome Location	chr9:2233969-2233970
allele	C/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	EP300	chr9:2232846-2236242	SK-N-SH	brain:	n/a	chr9:2235242-2235256 chr9:2234451-2234458 chr9:2234356-2234366
2	GATA2	chr9:2233898-2235032	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
RN7SL592P	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10217465	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757276	0.83[ASN][1000 genomes]
rs10757280	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10757293	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10811655	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10811672	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10811676	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10811677	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10965284	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10965294	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2093835	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60884758	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7045985	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7851755	0.93[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7863671	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7869382	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7870192	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7873444	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv892057	chr9:2144687-2241994	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv892059	chr9:2198627-2255397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033628	chr9:2215179-2303623	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv539927	chr9:2215179-2303623	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892060	chr9:2218129-2261944	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv466078	chr9:2218129-2621030	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv613126	chr9:2218129-2621030	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv6457	chr9:2228493-2271756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv892061	chr9:2229694-2262889	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1029947	chr9:2233969-2364269	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2223600-2240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:2227400-2234400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:2227800-2234400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:2228000-2234600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:2228800-2234200	Weak transcription	NHEK	skin
6	chr9:2229400-2234400	Weak transcription	Placenta	Placenta
7	chr9:2229800-2234200	Weak transcription	HMEC	breast
8	chr9:2230000-2234800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:2230000-2241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:2230200-2234400	Weak transcription	Right Ventricle	heart
11	chr9:2230200-2234600	Weak transcription	Right Atrium	heart
12	chr9:2230200-2241200	Weak transcription	Stomach Mucosa	stomach
13	chr9:2231000-2234200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:2231200-2235600	Enhancers	Fetal Stomach	stomach
15	chr9:2231400-2235800	Enhancers	Fetal Heart	heart
16	chr9:2231600-2234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:2231600-2235600	Enhancers	Colon Smooth Muscle	Colon
18	chr9:2232200-2234000	Weak transcription	Brain Germinal Matrix	brain
19	chr9:2232200-2234400	Enhancers	Stomach Smooth Muscle	stomach
20	chr9:2232400-2234600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:2232400-2234800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:2232600-2234000	Weak transcription	HSMM	muscle
23	chr9:2232600-2234200	Weak transcription	Fetal Lung	lung
24	chr9:2232600-2234200	Weak transcription	Osteobl	bone
25	chr9:2232600-2234400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:2232600-2234400	Weak transcription	Left Ventricle	heart
27	chr9:2232600-2234800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:2233200-2234400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:2233600-2235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:2233600-2235600	Enhancers	Ovary	ovary
31	chr9:2233600-2235600	Enhancers	HSMMtube	muscle
32	chr9:2233600-2235800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:2233800-2234000	Enhancers	Rectal Smooth Muscle	rectum
34	chr9:2233800-2234200	Weak transcription	Psoas Muscle	Psoas
35	chr9:2233800-2235400	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:2233800-2235400	Enhancers	Fetal Muscle Leg	muscle
37	chr9:2233800-2235600	Enhancers	Fetal Brain Male	brain
38	chr9:2233800-2236200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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