Variant report

Variant	rs4244315
Chromosome Location	chr10:97242901-97242902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10736089	0.83[GIH][hapmap]
rs12767115	1.00[JPT][hapmap]
rs1326931	0.91[GIH][hapmap]
rs1326933	0.87[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs1326935	0.87[GIH][hapmap]
rs1326938	0.83[EUR][1000 genomes]
rs1359723	0.83[TSI][hapmap]
rs1409715	0.83[EUR][1000 genomes]
rs1536447	0.95[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs1571132	1.00[GIH][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs1609588	0.91[GIH][hapmap]
rs3927490	0.91[GIH][hapmap]
rs4457684	0.83[EUR][1000 genomes]
rs4498913	0.83[GIH][hapmap]
rs4592368	0.83[GIH][hapmap]
rs512766	1.00[CHB][hapmap]
rs579342	1.00[CHB][hapmap];0.87[GIH][hapmap]
rs6584002	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6584006	0.83[GIH][hapmap]
rs7896622	0.82[EUR][1000 genomes]
rs7912249	0.83[GIH][hapmap]
rs943339	0.91[GIH][hapmap]
rs943346	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][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	nsv1045002	chr10:97214418-97250630	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4244315	TM9SF3	cis	parietal	SCAN
rs4244315	CRTAC1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97237200-97243000	Enhancers	HepG2	liver
2	chr10:97237200-97254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:97239600-97260800	Weak transcription	Brain Germinal Matrix	brain
4	chr10:97240600-97243000	Enhancers	Rectal Smooth Muscle	rectum
5	chr10:97240600-97244800	Weak transcription	K562	blood
6	chr10:97240600-97245000	Weak transcription	Hela-S3	cervix
7	chr10:97240600-97253000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:97240800-97244800	Weak transcription	HUVEC	blood vessel
9	chr10:97240800-97248800	Weak transcription	Fetal Brain Female	brain
10	chr10:97240800-97253400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:97241000-97244400	Weak transcription	Placenta	Placenta
12	chr10:97241000-97244600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:97241000-97247200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:97241000-97260600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:97241400-97245000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:97241400-97245000	Weak transcription	Gastric	stomach
17	chr10:97241400-97245400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:97241400-97245600	Weak transcription	Right Ventricle	heart
19	chr10:97241400-97253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:97241600-97245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:97241600-97246800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:97241600-97254000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:97241600-97260400	Weak transcription	Fetal Brain Male	brain
24	chr10:97241600-97260600	Weak transcription	Fetal Stomach	stomach
25	chr10:97241800-97245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:97241800-97249200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:97241800-97256400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:97242000-97244000	Weak transcription	Lung	lung
29	chr10:97242000-97244800	Weak transcription	Brain Angular Gyrus	brain
30	chr10:97242000-97253800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:97242000-97256400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:97242200-97243000	Genic enhancers	Stomach Smooth Muscle	stomach
33	chr10:97242200-97244800	Weak transcription	Stomach Mucosa	stomach
34	chr10:97242400-97243000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr10:97242600-97243000	Enhancers	Colon Smooth Muscle	Colon
36	chr10:97242600-97243400	Weak transcription	Aorta	Aorta
37	chr10:97242600-97244000	Weak transcription	Brain Anterior Caudate	brain
38	chr10:97242600-97244000	Weak transcription	Fetal Intestine Small	intestine
39	chr10:97242600-97244600	Weak transcription	Fetal Intestine Large	intestine
40	chr10:97242600-97244800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:97242600-97245000	Weak transcription	Right Atrium	heart
42	chr10:97242600-97247200	Weak transcription	Psoas Muscle	Psoas
43	chr10:97242600-97248200	Weak transcription	Fetal Heart	heart
44	chr10:97242600-97252200	Weak transcription	Pancreas	Pancrea
45	chr10:97242800-97243000	Enhancers	HSMMtube	muscle
46	chr10:97242800-97244600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:97242800-97244800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:97242800-97244800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:97242800-97244800	Weak transcription	HSMM	muscle
50	chr10:97242800-97245000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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