Variant report

Variant	rs10991816
Chromosome Location	chr9:93950513-93950514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93939078..93941817-chr9:93947414..93952988,4	K562	blood:
2	chr9:93943125..93945668-chr9:93947670..93950662,2	K562	blood:

Variant related genes	Relation type
ENSG00000229694	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10991813	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991820	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10991835	0.83[AMR][1000 genomes]
rs12236714	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12238485	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3884186	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3914139	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7020997	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7035931	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7036028	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10991816	FAM120A	cis	parietal	SCAN
rs10991816	PHF2	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93940800-93954000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:93941000-93953400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:93941000-93957400	Weak transcription	Gastric	stomach
4	chr9:93948200-93950600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:93948600-93950600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:93948600-93950600	Enhancers	Left Ventricle	heart
7	chr9:93948600-93950800	Enhancers	NHLF	lung
8	chr9:93948600-93951000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:93948800-93950600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:93948800-93950600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:93948800-93950600	Enhancers	Fetal Muscle Leg	muscle
12	chr9:93948800-93950600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:93948800-93950800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:93948800-93950800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:93949000-93950600	Enhancers	Stomach Mucosa	stomach
16	chr9:93949000-93950800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:93949000-93950800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:93949000-93950800	Enhancers	NH-A	brain
19	chr9:93949000-93950800	Enhancers	NHDF-Ad	bronchial
20	chr9:93949000-93950800	Enhancers	Osteobl	bone
21	chr9:93949000-93953400	Weak transcription	Fetal Lung	lung
22	chr9:93949200-93950800	Enhancers	Stomach Smooth Muscle	stomach
23	chr9:93949200-93951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:93949400-93953000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:93949400-93953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:93949400-93954000	Weak transcription	Spleen	Spleen
27	chr9:93949800-93953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:93949800-93953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:93949800-93953200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:93949800-93953200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:93949800-93953400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:93949800-93953400	Weak transcription	Hela-S3	cervix
33	chr9:93950000-93950600	Enhancers	HSMM	muscle
34	chr9:93950000-93950800	Enhancers	Fetal Heart	heart
35	chr9:93950000-93951000	Enhancers	Colon Smooth Muscle	Colon
36	chr9:93950000-93953400	Weak transcription	HepG2	liver
37	chr9:93950000-93955000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:93950200-93951200	Weak transcription	Esophagus	oesophagus
39	chr9:93950200-93953400	Weak transcription	Fetal Intestine Large	intestine
40	chr9:93950200-93953800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:93950200-93953800	Weak transcription	Right Atrium	heart
42	chr9:93950200-93954200	Weak transcription	Colonic Mucosa	Colon
43	chr9:93950200-93954400	Weak transcription	HUVEC	blood vessel
44	chr9:93950400-93951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:93950400-93953200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:93950400-93953400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:93950400-93953800	Weak transcription	Psoas Muscle	Psoas
48	chr9:93950400-93953800	Weak transcription	Right Ventricle	heart
49	chr9:93950400-93954000	Weak transcription	Adipose Nuclei	Adipose
50	chr9:93950400-93954000	Weak transcription	Rectal Mucosa Donor 31	rectum

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