Variant report

Variant	rs3768641
Chromosome Location	chr2:72368190-72368191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10166057	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10173381	0.90[ASW][hapmap]
rs10202129	1.00[JPT][hapmap]
rs13432350	0.90[ASW][hapmap]
rs3768638	0.81[ASN][1000 genomes]
rs3768639	0.81[ASN][1000 genomes]
rs6546745	1.00[JPT][hapmap]
rs6546746	1.00[JPT][hapmap]
rs6546747	1.00[JPT][hapmap]
rs7596302	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9309462	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9309464	0.90[ASW][hapmap]

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	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3768641	C2orf42	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72359400-72370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72360400-72370400	Weak transcription	Aorta	Aorta
3	chr2:72362600-72370000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:72363400-72368600	Genic enhancers	Placenta Amnion	Placenta Amnion
5	chr2:72364000-72368800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr2:72364600-72370000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:72364800-72368800	Enhancers	Spleen	Spleen
8	chr2:72365000-72369600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:72365000-72370000	Weak transcription	Esophagus	oesophagus
10	chr2:72365400-72368400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:72365400-72369800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:72365800-72370000	Weak transcription	Lung	lung
13	chr2:72365800-72370000	Weak transcription	Ovary	ovary
14	chr2:72366000-72370200	Weak transcription	Pancreas	Pancrea
15	chr2:72366200-72369400	Enhancers	Adipose Nuclei	Adipose
16	chr2:72366200-72369400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:72366200-72369800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:72366200-72370000	Weak transcription	Liver	Liver
19	chr2:72366200-72370000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:72366400-72369400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:72366400-72370000	Weak transcription	Left Ventricle	heart
22	chr2:72366400-72370000	Weak transcription	Right Atrium	heart
23	chr2:72366400-72370000	Weak transcription	NHDF-Ad	bronchial
24	chr2:72366400-72370400	Weak transcription	Psoas Muscle	Psoas
25	chr2:72366600-72369800	Weak transcription	Colonic Mucosa	Colon
26	chr2:72366800-72369600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:72366800-72370000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:72366800-72370000	Weak transcription	Gastric	stomach
29	chr2:72366800-72370000	Weak transcription	Right Ventricle	heart
30	chr2:72367000-72369800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:72367200-72368800	Weak transcription	Hela-S3	cervix
32	chr2:72367200-72369400	Weak transcription	Fetal Heart	heart
33	chr2:72367400-72368200	Weak transcription	Fetal Thymus	thymus
34	chr2:72367400-72368600	Enhancers	Fetal Muscle Leg	muscle
35	chr2:72367400-72369600	Weak transcription	A549	lung

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