Variant report

Variant	rs9824017
Chromosome Location	chr3:99425597-99425598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:99425274-99425648	ProgFib	skin:	n/a	n/a
2	POLR2A	chr3:99424750-99426615	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
COL8A1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16841650	1.00[YRI][hapmap]
rs16841653	1.00[YRI][hapmap]
rs16841712	1.00[YRI][hapmap]
rs17778804	1.00[YRI][hapmap]
rs6762809	1.00[YRI][hapmap]
rs6772519	1.00[YRI][hapmap]
rs6805703	1.00[YRI][hapmap]
rs7611313	1.00[YRI][hapmap]
rs9843372	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99394000-99426600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:99397600-99432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:99411400-99439600	Weak transcription	NHEK	skin
4	chr3:99411800-99426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:99419000-99428200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:99419800-99430400	Weak transcription	Left Ventricle	heart
7	chr3:99420000-99427000	Weak transcription	Right Atrium	heart
8	chr3:99420000-99428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:99420000-99429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:99420000-99432800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:99420000-99433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:99420600-99430400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:99421000-99427200	Strong transcription	HUVEC	blood vessel
14	chr3:99422200-99426000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:99422400-99425800	Weak transcription	NHLF	lung
16	chr3:99422400-99426200	Strong transcription	HSMM	muscle
17	chr3:99422400-99426200	Weak transcription	HSMMtube	muscle
18	chr3:99422600-99426000	Weak transcription	NH-A	brain
19	chr3:99422600-99431200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:99423400-99432400	Genic enhancers	Osteobl	bone
21	chr3:99423800-99440000	Weak transcription	Adipose Nuclei	Adipose
22	chr3:99424000-99426000	Weak transcription	Aorta	Aorta
23	chr3:99424400-99426000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:99424400-99426800	Weak transcription	NHDF-Ad	bronchial
25	chr3:99425000-99428200	Enhancers	Ovary	ovary
26	chr3:99425200-99425600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:99425200-99426000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:99425400-99427000	Strong transcription	Muscle Satellite Cultured Cells	--

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