Variant report

Variant	rs8224
Chromosome Location	chr2:189876543-189876544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	COL3A1	hsa-miR-335-5p	chr2:189876537-189876559

Variant related genes	Relation type
COL3A1	miRNA target site

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10191859	1.00[EUR][1000 genomes]
rs10201930	1.00[EUR][1000 genomes]
rs10497696	1.00[EUR][1000 genomes]
rs13306260	1.00[EUR][1000 genomes]
rs13425379	1.00[EUR][1000 genomes]
rs16830983	1.00[EUR][1000 genomes]
rs16830984	1.00[EUR][1000 genomes]
rs28413125	1.00[EUR][1000 genomes]
rs41263781	1.00[EUR][1000 genomes]
rs41272837	1.00[EUR][1000 genomes]
rs61112771	1.00[EUR][1000 genomes]
rs6711327	1.00[EUR][1000 genomes]
rs6741242	1.00[EUR][1000 genomes]
rs6752549	1.00[EUR][1000 genomes]
rs73047634	1.00[EUR][1000 genomes]
rs7567045	1.00[EUR][1000 genomes]
rs7600151	1.00[EUR][1000 genomes]
rs7607614	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv875612	chr2:189841052-189878769	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv584061	chr2:189844000-189878769	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:189849400-189877600	Strong transcription	Placenta	Placenta
3	chr2:189850400-189877200	Weak transcription	Right Ventricle	heart
4	chr2:189851800-189877200	Strong transcription	Colon Smooth Muscle	Colon
5	chr2:189851800-189878000	Strong transcription	HSMM	muscle
6	chr2:189852000-189877400	Strong transcription	Adipose Nuclei	Adipose
7	chr2:189854000-189878200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:189854200-189876800	Strong transcription	Fetal Lung	lung
9	chr2:189864400-189877400	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr2:189866400-189879200	Weak transcription	Gastric	stomach
11	chr2:189866600-189878000	Strong transcription	Osteobl	bone
12	chr2:189867400-189878000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr2:189867600-189878400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:189868200-189877200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:189869000-189878000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:189869200-189877800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:189869200-189877800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:189869200-189878800	Weak transcription	Pancreas	Pancrea
19	chr2:189871200-189877800	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
21	chr2:189871800-189879200	Weak transcription	Fetal Brain Male	brain
22	chr2:189873000-189877600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:189873200-189878200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:189873200-189878600	Weak transcription	Fetal Stomach	stomach
25	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:189874000-189878600	Weak transcription	Aorta	Aorta
27	chr2:189874000-189878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:189874000-189880800	Weak transcription	Left Ventricle	heart
29	chr2:189874200-189878800	Weak transcription	Ovary	ovary
30	chr2:189874200-189879200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:189874400-189876600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:189875400-189879000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:189875600-189876800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:189875600-189876800	Strong transcription	NHLF	lung
35	chr2:189875600-189878400	Strong transcription	NHDF-Ad	bronchial
36	chr2:189876000-189878800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
38	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:189876400-189878000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:189876400-189878600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:189876400-189883400	Weak transcription	NH-A	brain

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