Variant report

Variant	rs57130961
Chromosome Location	chr9:13121111-13121112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73404317	1.00[EUR][1000 genomes]
rs73647482	1.00[EUR][1000 genomes]
rs73647483	1.00[EUR][1000 genomes]
rs73647484	1.00[EUR][1000 genomes]
rs73647485	1.00[EUR][1000 genomes]
rs73647486	1.00[EUR][1000 genomes]
rs73647487	1.00[EUR][1000 genomes]
rs73647488	1.00[EUR][1000 genomes]
rs73649145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv917331	chr9:12941193-13146852	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892582	chr9:13085379-13147764	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13091800-13121600	Weak transcription	Brain Angular Gyrus	brain
2	chr9:13097800-13139400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:13101600-13141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:13102200-13122600	Weak transcription	Fetal Intestine Small	intestine
5	chr9:13102800-13121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:13103200-13134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:13103200-13137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:13103200-13143400	Weak transcription	Pancreas	Pancrea
9	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:13103200-13175600	Weak transcription	HepG2	liver
11	chr9:13103400-13134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:13103800-13139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:13104400-13137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:13105400-13124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:13105600-13134800	Weak transcription	Lung	lung
16	chr9:13105600-13144600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:13106000-13153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:13106600-13139200	Weak transcription	NHEK	skin
19	chr9:13107600-13124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:13109200-13138800	Weak transcription	Spleen	Spleen
21	chr9:13109200-13139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:13110400-13121800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:13110600-13121600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:13111200-13134800	Weak transcription	Fetal Brain Male	brain
25	chr9:13111400-13128200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:13112200-13121600	Weak transcription	Brain Germinal Matrix	brain
27	chr9:13112200-13143600	Weak transcription	Gastric	stomach
28	chr9:13112400-13134600	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:13112600-13121600	Weak transcription	Placenta	Placenta
30	chr9:13113000-13121800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:13113000-13124800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:13113200-13121800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:13113400-13121600	Weak transcription	Fetal Heart	heart
34	chr9:13113400-13134800	Weak transcription	Psoas Muscle	Psoas
35	chr9:13113600-13121200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:13114000-13121600	Weak transcription	Ovary	ovary
37	chr9:13114000-13124800	Weak transcription	Fetal Brain Female	brain
38	chr9:13114200-13121200	Weak transcription	NH-A	brain
39	chr9:13114200-13121600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:13114200-13135000	Weak transcription	NHLF	lung
41	chr9:13114400-13132200	Weak transcription	Brain Substantia Nigra	brain
42	chr9:13114600-13139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:13114600-13139400	Weak transcription	NHDF-Ad	bronchial
44	chr9:13115600-13123000	Weak transcription	A549	lung
45	chr9:13116000-13139800	Strong transcription	Liver	Liver
46	chr9:13117800-13125600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:13118000-13139000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:13118200-13126800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:13118200-13138800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:13118400-13125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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