Variant report

Variant	rs10991820
Chromosome Location	chr9:93952940-93952941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93939078..93941817-chr9:93947414..93952988,4	K562	blood:
2	chr9:93948011..93949691-chr9:93951858..93953377,2	MCF-7	breast:
3	chr9:93952520..93956320-chr9:94184943..94188972,4	K562	blood:

Variant related genes	Relation type
ENSG00000233081	Chromatin interaction
ENSG00000165030	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10991813	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10991816	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	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12236714	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12238485	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3884186	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3914139	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7020997	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7035931	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7036028	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9792456	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10991820	FAM120A	cis	parietal	SCAN
rs10991820	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	chr9:93949000-93953400	Weak transcription	Fetal Lung	lung
5	chr9:93949400-93953000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:93949400-93953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:93949400-93954000	Weak transcription	Spleen	Spleen
8	chr9:93949800-93953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:93949800-93953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:93949800-93953200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:93949800-93953200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:93949800-93953400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr9:93949800-93953400	Weak transcription	Hela-S3	cervix
14	chr9:93950000-93953400	Weak transcription	HepG2	liver
15	chr9:93950000-93955000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:93950200-93953400	Weak transcription	Fetal Intestine Large	intestine
17	chr9:93950200-93953800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:93950200-93953800	Weak transcription	Right Atrium	heart
19	chr9:93950200-93954200	Weak transcription	Colonic Mucosa	Colon
20	chr9:93950200-93954400	Weak transcription	HUVEC	blood vessel
21	chr9:93950400-93953200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:93950400-93953400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:93950400-93953800	Weak transcription	Psoas Muscle	Psoas
24	chr9:93950400-93953800	Weak transcription	Right Ventricle	heart
25	chr9:93950400-93954000	Weak transcription	Adipose Nuclei	Adipose
26	chr9:93950400-93954000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:93950400-93954400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:93950600-93953200	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:93950600-93953200	Weak transcription	Left Ventricle	heart
30	chr9:93950600-93953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:93950600-93953800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:93950600-93953800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:93950600-93954200	Weak transcription	HSMM	muscle
34	chr9:93950600-93954400	Weak transcription	Stomach Mucosa	stomach
35	chr9:93950600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:93950800-93953400	Weak transcription	Fetal Heart	heart
37	chr9:93950800-93953400	Weak transcription	NHDF-Ad	bronchial
38	chr9:93950800-93954000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:93950800-93954000	Weak transcription	NHLF	lung
40	chr9:93950800-93954200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:93950800-93954200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:93950800-93954400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr9:93950800-93954400	Weak transcription	NH-A	brain
44	chr9:93950800-93954400	Weak transcription	Osteobl	bone
45	chr9:93951000-93953600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:93951000-93954400	Weak transcription	Colon Smooth Muscle	Colon
47	chr9:93951600-93953200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:93951600-93953200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:93951600-93954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:93951600-93954400	Weak transcription	Esophagus	oesophagus

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