Variant report

Variant	rs17114337
Chromosome Location	chr10:90713195-90713196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:90710687-90713210	SK-N-SH	brain:	n/a	chr10:90711780-90711796 chr10:90713137-90713146 chr10:90712212-90712222

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90697471..90699634-chr10:90711409..90714221,2	K562	blood:

Variant related genes	Relation type
ACTA2	TF binding region
ENSG00000180139	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10887866	1.00[ASW][hapmap];0.81[CEU][hapmap];0.89[CHD][hapmap];0.91[YRI][hapmap]
rs11202886	0.83[CHD][hapmap]
rs11202889	0.81[CEU][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes]
rs12571023	0.81[CEU][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17114183	0.90[CEU][hapmap];0.86[AMR][1000 genomes]
rs17114302	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781207	0.81[CEU][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3781211	1.00[ASW][hapmap];0.81[CEU][hapmap];0.94[CHD][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs714887	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
3	chr10:90699400-90715400	Weak transcription	HepG2	liver
4	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
5	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
6	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:90707000-90713200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:90708800-90713600	Active TSS	Stomach Smooth Muscle	stomach
10	chr10:90709000-90713200	Active TSS	Aorta	Aorta
11	chr10:90711200-90713200	Enhancers	Brain Germinal Matrix	brain
12	chr10:90711400-90713200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:90711800-90713200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:90711800-90713200	Flanking Active TSS	Fetal Stomach	stomach
15	chr10:90711800-90713200	Weak transcription	Spleen	Spleen
16	chr10:90712000-90713200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:90712200-90713400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:90712200-90713600	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr10:90712400-90713200	Active TSS	Adipose Nuclei	Adipose
20	chr10:90712400-90713400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:90712400-90713400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:90712400-90713400	Flanking Active TSS	HSMMtube	muscle
23	chr10:90712600-90713200	Enhancers	Fetal Intestine Large	intestine
24	chr10:90712800-90713200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr10:90712800-90713200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr10:90712800-90713400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:90712800-90713400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:90712800-90713600	Enhancers	HSMM	muscle
29	chr10:90712800-90713600	Enhancers	NHLF	lung
30	chr10:90712800-90713800	Enhancers	Fetal Muscle Leg	muscle
31	chr10:90712800-90720800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:90713000-90713200	Active TSS	Rectal Smooth Muscle	rectum
33	chr10:90713000-90713400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:90713000-90713400	Enhancers	Fetal Heart	heart
35	chr10:90713000-90713400	Enhancers	Osteobl	bone
36	chr10:90713000-90713600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:90713000-90713600	Enhancers	Ovary	ovary
38	chr10:90713000-90713800	Enhancers	NHDF-Ad	bronchial
39	chr10:90713000-90714400	Enhancers	Fetal Lung	lung

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