Variant report

Variant	rs11101371
Chromosome Location	chr10:49735098-49735099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49732506-49735617	U87	brain:	n/a	n/a
2	POLR2A	chr10:49734928-49735419	U87	brain:	n/a	n/a
3	POLR2A	chr10:49732512-49735548	U87	brain:	n/a	n/a
4	MAZ	chr10:49733859-49735248	IMR90	lung:	n/a	n/a
5	GATA2	chr10:49734932-49735294	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49732450..49736073-chr10:49745484..49747337,3	K562	blood:
2	chr10:49723375..49726156-chr10:49734098..49735696,2	K562	blood:
3	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
4	chr10:49729006..49734314-chr10:49734624..49737361,4	K562	blood:
5	chr10:49677603..49679164-chr10:49733692..49735615,2	K562	blood:

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10776608	0.89[JPT][hapmap]
rs10776609	0.83[JPT][hapmap]
rs10776610	1.00[JPT][hapmap]
rs10776612	0.80[JPT][hapmap]
rs10857583	0.92[CHD][hapmap];0.89[JPT][hapmap]
rs10857584	0.89[JPT][hapmap]
rs10857586	0.85[ASN][1000 genomes]
rs10857590	0.89[ASW][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs11101358	0.87[ASN][1000 genomes]
rs11101370	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101373	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12249815	0.89[JPT][hapmap]
rs12265171	0.90[ASN][1000 genomes]
rs1814471	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs1947075	0.90[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4838416	0.80[JPT][hapmap]
rs4838417	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4838607	0.92[CHD][hapmap];0.89[JPT][hapmap]
rs4838611	0.89[ASN][1000 genomes]
rs55665699	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57632129	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7896115	0.80[JPT][hapmap]
rs7913593	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs7913612	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs9663790	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs9971117	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49732200-49750800	Weak transcription	Gastric	stomach
2	chr10:49732600-49735200	Weak transcription	Pancreas	Pancrea
3	chr10:49732800-49736200	Enhancers	HUVEC	blood vessel
4	chr10:49732800-49736800	Weak transcription	Right Atrium	heart
5	chr10:49732800-49742000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:49733800-49735400	Enhancers	Rectal Smooth Muscle	rectum
7	chr10:49733800-49735600	Enhancers	Fetal Stomach	stomach
8	chr10:49733800-49736800	Enhancers	Brain Substantia Nigra	brain
9	chr10:49734000-49735200	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr10:49734000-49735200	Flanking Active TSS	Osteobl	bone
11	chr10:49734000-49735400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:49734000-49735400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:49734000-49735400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:49734000-49735400	Enhancers	Colon Smooth Muscle	Colon
15	chr10:49734000-49735800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:49734000-49736000	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:49734200-49735200	Enhancers	HSMM	muscle
18	chr10:49734200-49735200	Flanking Active TSS	HSMMtube	muscle
19	chr10:49734200-49735400	Enhancers	Brain Anterior Caudate	brain
20	chr10:49734200-49735400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:49734200-49735400	Enhancers	Fetal Lung	lung
22	chr10:49734200-49735400	Enhancers	Fetal Muscle Leg	muscle
23	chr10:49734200-49735400	Flanking Active TSS	NH-A	brain
24	chr10:49734200-49735600	Enhancers	Brain Angular Gyrus	brain
25	chr10:49734200-49736000	Enhancers	Brain Hippocampus Middle	brain
26	chr10:49734400-49743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:49734600-49735200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:49734600-49736600	Enhancers	NHDF-Ad	bronchial
30	chr10:49734800-49735200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:49734800-49735200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:49734800-49735600	Enhancers	Fetal Kidney	kidney
33	chr10:49734800-49735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:49734800-49735800	Enhancers	Ovary	ovary
35	chr10:49734800-49741800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:49734800-49743200	Weak transcription	HMEC	breast
37	chr10:49735000-49735200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:49735000-49735400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:49735000-49735400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr10:49735000-49735400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr10:49735000-49735400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr10:49735000-49735400	Flanking Active TSS	NHLF	lung
43	chr10:49735000-49735600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:49735000-49735600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:49735000-49735600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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