Variant report

Variant	rs8135353
Chromosome Location	chr22:31495443-31495444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31494893-31495894	U87	brain:	n/a	n/a
2	POLR2A	chr22:31495347-31495514	HCT-116	colon:	n/a	n/a
3	CEBPB	chr22:31495324-31495802	IMR90	lung:	n/a	n/a
4	POLR2A	chr22:31494893-31495728	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:31486882..31489559-chr22:31493871..31495711,2	MCF-7	breast:
2	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
3	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
4	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:
5	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:

No data

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000198832	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1004243	0.87[CEU][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11089487	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs11089488	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089489	0.85[AFR][1000 genomes]
rs11703403	0.85[AFR][1000 genomes]
rs11703478	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705137	1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs12167220	1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs12330010	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484046	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs13053329	0.87[AFR][1000 genomes]
rs13054770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558023	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1807739	0.87[AFR][1000 genomes]
rs2017301	1.00[CHB][hapmap]
rs2079429	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35413173	0.89[ASN][1000 genomes]
rs35657209	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35685997	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281997	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4820934	0.88[CEU][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4820938	1.00[CHB][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs4820939	0.83[AFR][1000 genomes]
rs4820940	1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs4820941	0.87[AFR][1000 genomes]
rs62236159	0.89[ASN][1000 genomes]
rs7284108	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7284757	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs7285617	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs737930	0.91[CEU][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8137317	0.87[ASN][1000 genomes]
rs9619163	0.92[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs9621173	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9621178	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9621184	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621185	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621187	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9621188	1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
2	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
3	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
5	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
9	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:31482800-31497800	Strong transcription	Osteobl	bone
12	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
13	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
16	chr22:31483200-31502000	Strong transcription	NHEK	skin
17	chr22:31483600-31497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:31483600-31497800	Strong transcription	HMEC	breast
19	chr22:31483800-31497400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:31484000-31498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
25	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
26	chr22:31485400-31498000	Strong transcription	Adipose Nuclei	Adipose
27	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
28	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
29	chr22:31486800-31498600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:31487400-31497800	Strong transcription	NH-A	brain
31	chr22:31488400-31500400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:31489000-31500000	Weak transcription	Primary T cells from cord blood	blood
33	chr22:31489200-31498200	Weak transcription	A549	lung
34	chr22:31489200-31501400	Strong transcription	Gastric	stomach
35	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
36	chr22:31490200-31497200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:31490400-31495800	Genic enhancers	Right Ventricle	heart
38	chr22:31490400-31496400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr22:31490400-31498400	Weak transcription	Right Atrium	heart
40	chr22:31490600-31495800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr22:31490600-31496000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr22:31490800-31500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
44	chr22:31491000-31496400	Strong transcription	Dnd41	blood
45	chr22:31491000-31500600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:31491800-31498400	Strong transcription	Lung	lung
48	chr22:31491800-31502600	Weak transcription	Liver	Liver
49	chr22:31492600-31496800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:31492800-31495600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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