Variant report

Variant	rs12082722
Chromosome Location	chr1:165737133-165737134
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165736624-165740514	K562	blood:	n/a	n/a
2	POLR2A	chr1:165737058-165737348	HepG2	liver:	n/a	n/a
3	HCFC1	chr1:165736860-165738955	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr1:165737119-165737191	GM12878	blood:	n/a	n/a
5	GABPA	chr1:165737111-165738913	A549	lung:	n/a	n/a
6	MXI1	chr1:165736796-165739222	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
3	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
4	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
5	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
6	chr1:165735880..165737855-chr1:165863441..165866125,2	K562	blood:
7	chr1:165667536..165669486-chr1:165736821..165739691,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224358	TF binding region
ENSG00000143149	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10800161	1.00[AFR][1000 genomes]
rs10918267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10918282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10918286	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918288	1.00[AFR][1000 genomes]
rs12060158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12061566	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12062594	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064466	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12075644	1.00[CHB][hapmap]
rs12076579	1.00[EUR][1000 genomes]
rs12077778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12077875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090132	1.00[EUR][1000 genomes]
rs12094467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12354157	1.00[EUR][1000 genomes]
rs12401468	0.83[AMR][1000 genomes]
rs12566281	1.00[AFR][1000 genomes]
rs28735603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9970857	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165727800-165737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:165729200-165737200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:165732600-165737200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr1:165732800-165737400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:165733000-165737200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:165734600-165737200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:165734600-165737200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr1:165735200-165737200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:165735400-165737200	Weak transcription	Fetal Lung	lung
13	chr1:165735400-165737400	Weak transcription	Aorta	Aorta
14	chr1:165735800-165737200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:165735800-165737200	Weak transcription	HSMMtube	muscle
16	chr1:165735800-165737200	Weak transcription	HUVEC	blood vessel
17	chr1:165735800-165737400	Weak transcription	Left Ventricle	heart
18	chr1:165735800-165737400	Weak transcription	Right Ventricle	heart
19	chr1:165736000-165737200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:165736000-165737200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:165736000-165737400	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:165736000-165737600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:165736000-165737600	Weak transcription	Esophagus	oesophagus
24	chr1:165736200-165737200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:165736200-165737400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:165736400-165737200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:165736400-165737400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:165736600-165737200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:165736600-165737200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:165736600-165737200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
31	chr1:165736600-165737200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:165736600-165737200	Genic enhancers	HSMM	muscle
33	chr1:165736600-165737200	Genic enhancers	Osteobl	bone
34	chr1:165736600-165737400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:165736600-165737600	Enhancers	Stomach Mucosa	stomach
36	chr1:165736800-165737200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:165736800-165737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:165736800-165737200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:165736800-165737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:165736800-165737200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:165736800-165737200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:165736800-165737200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:165736800-165737200	Enhancers	Colon Smooth Muscle	Colon
44	chr1:165736800-165737200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
45	chr1:165736800-165737200	Genic enhancers	Fetal Intestine Large	intestine
46	chr1:165736800-165737200	Genic enhancers	Pancreas	Pancrea
47	chr1:165736800-165737200	Genic enhancers	Thymus	Thymus
48	chr1:165736800-165737200	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:165736800-165737400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:165736800-165737400	Genic enhancers	Primary monocytes fromperipheralblood	blood

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