Variant report

Variant	rs11097076
Chromosome Location	chr4:86750313-86750314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10029846	0.82[AMR][1000 genomes]
rs1109822	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11733669	0.90[JPT][hapmap]
rs13107701	0.89[JPT][hapmap]
rs1452676	0.81[ASW][hapmap];0.89[YRI][hapmap]
rs345368	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4693740	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6844781	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682945	0.82[AMR][1000 genomes]
rs882639	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11097076	PPP3R2	trans	parietal	SCAN
rs11097076	HERC6	cis	cerebellum	SCAN
rs11097076	HSD17B11	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86747800-86752600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:86748600-86750600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:86749200-86750400	Active TSS	Fetal Muscle Leg	muscle
5	chr4:86749200-86750600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:86749200-86750600	Active TSS	Fetal Kidney	kidney
7	chr4:86749200-86750600	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:86749400-86750600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:86749400-86750600	Weak transcription	HUVEC	blood vessel
10	chr4:86749400-86751000	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:86749400-86752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:86749400-86752800	Weak transcription	Left Ventricle	heart
13	chr4:86749400-86753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:86749400-86753200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:86749400-86753200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:86749400-86753200	Weak transcription	Gastric	stomach
17	chr4:86749400-86754400	Weak transcription	Right Ventricle	heart
18	chr4:86749400-86758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:86749400-86761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:86749400-86787600	Weak transcription	Pancreas	Pancrea
21	chr4:86749600-86750600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:86749600-86750600	Weak transcription	Stomach Mucosa	stomach
23	chr4:86749600-86750600	Weak transcription	HSMM	muscle
24	chr4:86749600-86753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:86749600-86753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:86749600-86753200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:86749600-86754600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:86749600-86761200	Weak transcription	Ovary	ovary
29	chr4:86749600-86763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:86749800-86750600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:86749800-86750800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:86749800-86750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:86749800-86750800	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:86749800-86750800	Weak transcription	A549	lung
35	chr4:86749800-86751600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:86749800-86752800	Weak transcription	Right Atrium	heart
37	chr4:86749800-86753000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:86749800-86753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:86749800-86753000	Weak transcription	Aorta	Aorta
40	chr4:86749800-86753200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:86749800-86758000	Weak transcription	NHLF	lung
42	chr4:86750000-86750400	Weak transcription	Fetal Heart	heart
43	chr4:86750000-86750600	Weak transcription	NHDF-Ad	bronchial
44	chr4:86750000-86751200	Weak transcription	Psoas Muscle	Psoas
45	chr4:86750000-86751600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:86750000-86753200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:86750000-86754000	Weak transcription	Adipose Nuclei	Adipose
48	chr4:86750000-86754200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:86750000-86757800	Weak transcription	Fetal Stomach	stomach
50	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle

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