Variant report

Variant	rs4733575
Chromosome Location	chr8:131422263-131422264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10091450	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs10098396	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10098622	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10100892	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs10103280	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426101	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs16904259	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2554369	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2554372	0.82[CHB][hapmap]
rs2670885	0.82[CEU][hapmap];0.93[CHB][hapmap]
rs2670888	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2670890	1.00[CHB][hapmap]
rs2791338	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2791342	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs2791350	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2943086	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs35977498	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72724494	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72726224	0.88[EUR][1000 genomes]
rs73713907	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7816836	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297805	1.00[CHB][hapmap];0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4733575	GSDMC	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
6	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
10	chr8:131410000-131423200	Weak transcription	Ovary	ovary
11	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
14	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:131417400-131422800	Weak transcription	NH-A	brain
16	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
17	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:131418000-131423600	Weak transcription	HepG2	liver
21	chr8:131418600-131428200	Weak transcription	HMEC	breast
22	chr8:131419600-131423400	Weak transcription	NHEK	skin
23	chr8:131419800-131423200	Weak transcription	Spleen	Spleen
24	chr8:131420000-131423400	Weak transcription	Lung	lung
25	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
26	chr8:131420600-131422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:131420600-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:131420600-131428200	Weak transcription	NHLF	lung
30	chr8:131420800-131423600	Weak transcription	Osteobl	bone
31	chr8:131420800-131424000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:131421000-131422600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:131421000-131428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:131421200-131423400	Weak transcription	HUVEC	blood vessel
36	chr8:131421200-131424000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:131421600-131424000	Strong transcription	A549	lung
38	chr8:131421600-131424600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:131421600-131424800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131421800-131424200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:131421800-131424400	Enhancers	Left Ventricle	heart
42	chr8:131421800-131424400	Enhancers	Right Atrium	heart
43	chr8:131422000-131422800	Enhancers	Fetal Heart	heart
44	chr8:131422000-131423400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:131422000-131423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:131422000-131423800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:131422000-131431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:131422200-131422400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:131422200-131422400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131422200-131423400	Weak transcription	Psoas Muscle	Psoas

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