Variant report

Variant	rs12571023
Chromosome Location	chr10:90695984-90695985
allele	G/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	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
2	RAD21	chr10:90694391-90696009	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:

Variant related genes	Relation type
ACTA2-AS1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10887866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11202886	1.00[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs11202889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17113989	0.91[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs17114183	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17114302	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17114337	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]
rs3781207	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[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];0.98[ASN][1000 genomes]
rs3781211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs391683	1.00[YRI][hapmap]
rs714887	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90675800-90696400	Weak transcription	Spleen	Spleen
3	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:90686000-90697600	Weak transcription	Left Ventricle	heart
5	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
7	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:90693400-90697200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
11	chr10:90694800-90697000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:90694800-90697000	Genic enhancers	Colon Smooth Muscle	Colon
13	chr10:90694800-90697200	Genic enhancers	GM12878-XiMat	blood
14	chr10:90694800-90698000	Genic enhancers	Rectal Smooth Muscle	rectum
15	chr10:90694800-90699800	Strong transcription	Aorta	Aorta
16	chr10:90695000-90696400	Enhancers	Ovary	ovary
17	chr10:90695000-90703800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:90695200-90696200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:90695200-90696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:90695200-90696800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr10:90695200-90696800	Weak transcription	HSMM	muscle
22	chr10:90695200-90697000	Weak transcription	Lung	lung
23	chr10:90695200-90697800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:90695200-90697800	Weak transcription	Right Ventricle	heart
25	chr10:90695200-90700800	Weak transcription	Esophagus	oesophagus
26	chr10:90695200-90701600	Weak transcription	Colonic Mucosa	Colon
27	chr10:90695200-90702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:90695200-90703400	Weak transcription	Pancreas	Pancrea
29	chr10:90695200-90703800	Weak transcription	A549	lung
30	chr10:90695200-90704400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr10:90695200-90704800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:90695400-90697800	Weak transcription	Placenta	Placenta
33	chr10:90695400-90698600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr10:90695400-90699400	Weak transcription	Primary B cells from cord blood	blood
35	chr10:90695400-90703400	Strong transcription	Fetal Stomach	stomach
36	chr10:90695600-90696400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:90695600-90696400	Weak transcription	Adipose Nuclei	Adipose
38	chr10:90695600-90696400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:90695600-90696600	Weak transcription	NHDF-Ad	bronchial
40	chr10:90695600-90696800	Weak transcription	Fetal Lung	lung
41	chr10:90695600-90696800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:90695600-90697000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:90695600-90697600	Weak transcription	HepG2	liver
44	chr10:90695600-90699200	Weak transcription	Brain Anterior Caudate	brain
45	chr10:90695600-90700000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:90695600-90700600	Strong transcription	NH-A	brain
47	chr10:90695600-90700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:90695600-90700800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:90695600-90703400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr10:90695600-90703800	Weak transcription	Primary B cells from peripheral blood	blood

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