Variant report

Variant	rs13053329
Chromosome Location	chr22:31502732-31502733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr22:31501611-31504230	IMR90	lung:	n/a	n/a
2	POLR2A	chr22:31497852-31504039	U87	brain:	n/a	n/a
3	POLR2A	chr22:31499154-31503129	HUVEC	blood vessel:	n/a	n/a
4	MXI1	chr22:31501535-31504386	IMR90	lung:	n/a	n/a
5	POLR2A	chr22:31497892-31504019	U87	brain:	n/a	n/a
6	POLR2A	chr22:31502602-31502763	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:31501599-31502788	MCF-7	breast:	n/a	n/a
8	POLR2A	chr22:31497526-31504006	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:
2	chr22:31478371..31481367-chr22:31500336..31503939,6	K562	blood:
3	chr22:31502491..31504083-chr22:31522492..31525469,2	K562	blood:
4	chr22:31479541..31481493-chr22:31501222..31503741,4	MCF-7	breast:
5	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:
6	chr22:31479652..31482728-chr22:31500685..31503831,4	MCF-7	breast:
7	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
8	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198832	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1004243	0.88[AFR][1000 genomes]
rs11089488	0.91[AFR][1000 genomes]
rs11089489	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703403	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11703478	0.87[AFR][1000 genomes]
rs11705137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170688	0.84[ASN][1000 genomes]
rs12330010	0.88[AFR][1000 genomes]
rs13054770	0.91[AFR][1000 genomes]
rs1807739	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017301	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35657209	0.89[AFR][1000 genomes]
rs4281997	0.85[AFR][1000 genomes]
rs4820938	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820939	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820940	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820941	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236155	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8135353	0.87[AFR][1000 genomes]
rs9621184	0.88[AFR][1000 genomes]
rs9621185	0.86[AFR][1000 genomes]
rs9621187	0.88[AFR][1000 genomes]
rs9621188	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
2	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
3	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr22:31497400-31503000	Weak transcription	Dnd41	blood
6	chr22:31498600-31503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31498600-31503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31498600-31503000	Weak transcription	Thymus	Thymus
9	chr22:31498800-31502800	Weak transcription	Fetal Lung	lung
10	chr22:31498800-31503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:31499000-31502800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr22:31499200-31503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:31499400-31502800	Weak transcription	Psoas Muscle	Psoas
14	chr22:31499600-31503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:31500200-31503200	Weak transcription	Hela-S3	cervix
16	chr22:31500800-31502800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:31501200-31502800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr22:31501200-31502800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:31501400-31502800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr22:31501400-31503200	Weak transcription	Fetal Heart	heart
21	chr22:31501400-31504000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr22:31501600-31502800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr22:31501600-31503000	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr22:31501800-31503400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:31501800-31503800	Active TSS	HSMMtube	muscle
26	chr22:31501800-31504200	Active TSS	Aorta	Aorta
27	chr22:31502000-31502800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31502000-31502800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:31502000-31502800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr22:31502000-31502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:31502000-31502800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr22:31502000-31502800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:31502000-31502800	Enhancers	Fetal Muscle Leg	muscle
34	chr22:31502000-31502800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr22:31502000-31503000	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:31502000-31503000	Weak transcription	NHEK	skin
37	chr22:31502000-31503200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr22:31502200-31502800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:31502200-31502800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31502200-31502800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:31502200-31502800	Flanking Active TSS	Right Ventricle	heart
42	chr22:31502200-31503000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:31502200-31503000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:31502200-31503000	Flanking Active TSS	Pancreas	Pancrea
45	chr22:31502200-31503000	Flanking Active TSS	Osteobl	bone
46	chr22:31502200-31503200	Enhancers	Stomach Mucosa	stomach
47	chr22:31502200-31503400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr22:31502200-31503400	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr22:31502200-31503400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr22:31502200-31503400	Flanking Active TSS	NH-A	brain

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