Variant report

Variant	rs11791817
Chromosome Location	chr9:116704466-116704467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116704077..116708028-chr9:116709899..116712780,3	K562	blood:
2	chr9:116637974..116640747-chr9:116703199..116705184,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL27A1-1	chr9:116704024-116704714	ncRnaDb_ncrna_FR004098_1

Variant related genes	Relation type
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11790976	0.89[EUR][1000 genomes]
rs11791785	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11792006	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11792694	0.89[EUR][1000 genomes]
rs16910517	0.89[EUR][1000 genomes]
rs16910570	0.89[EUR][1000 genomes]
rs16910855	1.00[EUR][1000 genomes]
rs16910950	1.00[EUR][1000 genomes]
rs1807280	0.85[EUR][1000 genomes]
rs2150013	0.85[EUR][1000 genomes]
rs35678978	0.96[EUR][1000 genomes]
rs4287014	0.96[EUR][1000 genomes]
rs73554413	0.96[EUR][1000 genomes]
rs73554494	1.00[EUR][1000 genomes]
rs7862623	0.85[EUR][1000 genomes]
rs7866488	0.85[EUR][1000 genomes]
rs7867159	0.85[EUR][1000 genomes]
rs814682	1.00[GIH][hapmap]
rs814683	1.00[GIH][hapmap]
rs814684	1.00[GIH][hapmap]
rs814694	1.00[GIH][hapmap]

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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116691800-116709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:116692000-116719400	Weak transcription	HMEC	breast
3	chr9:116692400-116716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:116692400-116717200	Weak transcription	A549	lung
5	chr9:116693200-116705400	Weak transcription	Psoas Muscle	Psoas
6	chr9:116693800-116714200	Weak transcription	Fetal Kidney	kidney
7	chr9:116695600-116711600	Weak transcription	Liver	Liver
8	chr9:116695800-116705400	Weak transcription	Lung	lung
9	chr9:116695800-116708800	Weak transcription	Pancreas	Pancrea
10	chr9:116695800-116716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:116696000-116714800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:116696200-116719800	Weak transcription	Gastric	stomach
13	chr9:116697600-116705400	Weak transcription	Spleen	Spleen
14	chr9:116697600-116715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:116698200-116708200	Weak transcription	Fetal Intestine Small	intestine
16	chr9:116698400-116708800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:116698600-116707200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:116701800-116705600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:116703400-116704600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:116703400-116705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:116703600-116714600	Weak transcription	NH-A	brain
22	chr9:116703600-116719800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:116703800-116716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:116703800-116716600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116704000-116704600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:116704000-116704600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr9:116704000-116705200	Strong transcription	HUVEC	blood vessel
28	chr9:116704000-116708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:116704200-116704600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:116704200-116704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:116704200-116705600	Strong transcription	Fetal Lung	lung
32	chr9:116704200-116705800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:116704200-116705800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:116704200-116706200	Strong transcription	HSMM	muscle
35	chr9:116704200-116713000	Strong transcription	Fetal Stomach	stomach
36	chr9:116704200-116715400	Weak transcription	NHLF	lung
37	chr9:116704400-116704600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr9:116704400-116704800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:116704400-116705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:116704400-116705400	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:116704400-116705400	Weak transcription	Ovary	ovary
42	chr9:116704400-116706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:116704400-116709000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:116704400-116714400	Weak transcription	NHDF-Ad	bronchial
45	chr9:116704400-116714600	Weak transcription	HSMMtube	muscle
46	chr9:116704400-116714600	Weak transcription	Osteobl	bone
47	chr9:116704400-116717000	Weak transcription	Primary hematopoietic stem cells	blood

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