Variant report

Variant	rs915199
Chromosome Location	chr1:94481929-94481930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94474260..94476324-chr1:94481823..94483711,2	K562	blood:
2	chr1:94467932..94470358-chr1:94480661..94482981,2	K562	blood:
3	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:

Variant related genes	Relation type
ENSG00000023909	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10518537	1.00[CHB][hapmap]
rs4147849	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs6664100	1.00[CHB][hapmap]
rs914957	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914958	0.81[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs915200	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs915201	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546850	chr1:94479468-94485277	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs915199	F3	cis	cerebellum	SCAN
rs915199	ARHGAP29	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94475400-94485600	Weak transcription	NH-A	brain
2	chr1:94479200-94484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94479400-94484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:94479400-94484800	Weak transcription	Placenta	Placenta
5	chr1:94479400-94486000	Weak transcription	HSMM	muscle
6	chr1:94479600-94486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:94480000-94484800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:94480400-94484800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:94480600-94482200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:94480800-94482800	Weak transcription	HMEC	breast
12	chr1:94481000-94482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94481000-94485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:94481000-94485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:94481000-94485800	Weak transcription	NHLF	lung
16	chr1:94481000-94486000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:94481000-94486000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:94481200-94482800	Weak transcription	Osteobl	bone
19	chr1:94481200-94485800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:94481400-94482800	Weak transcription	NHDF-Ad	bronchial
21	chr1:94481400-94484200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:94481400-94486800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:94481600-94482600	Weak transcription	K562	blood
24	chr1:94481600-94482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:94481600-94485000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:94481600-94485800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94481800-94483200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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