Variant report

Variant	rs12061020
Chromosome Location	chr1:155298018-155298019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155296887-155298368	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:155297355-155298108	K562	blood:	n/a	n/a
3	POLR2A	chr1:155297759-155298028	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:155297468-155298256	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:155297981-155298076	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:155297227-155298183	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr1:155292744-155298116	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:155297370-155298498	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr1:155297594-155298193	HL-60	blood:	n/a	n/a
10	POLR2A	chr1:155297651-155298099	K562	blood:	n/a	n/a
11	POLR2A	chr1:155297987-155298135	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
2	chr1:155290527..155292224-chr1:155295529..155298147,2	K562	blood:
3	chr1:155242819..155244420-chr1:155297193..155298872,2	MCF-7	breast:
4	chr1:155290724..155293663-chr1:155296292..155298147,2	K562	blood:
5	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:

No data

Variant related genes	Relation type
RUSC1-AS1	TF binding region
ENSG00000116521	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000176444	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12058480	1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 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	chr1:155294800-155299800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:155294800-155299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:155295000-155299800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:155295000-155299800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:155295000-155300000	Weak transcription	Aorta	Aorta
6	chr1:155295000-155307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:155295000-155307000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:155295200-155299800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:155295200-155299800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:155295200-155299800	Weak transcription	Liver	Liver
11	chr1:155295200-155306000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:155295400-155299800	Weak transcription	Small Intestine	intestine
13	chr1:155295400-155300000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:155295400-155307400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:155295400-155308600	Weak transcription	Psoas Muscle	Psoas
16	chr1:155295600-155298600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:155295600-155299600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:155295600-155299800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:155295600-155299800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:155295600-155299800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:155295600-155299800	Weak transcription	HSMMtube	muscle
22	chr1:155295600-155301400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:155295600-155301800	Weak transcription	Right Atrium	heart
24	chr1:155295800-155298200	Strong transcription	Brain Anterior Caudate	brain
25	chr1:155295800-155298200	Strong transcription	NHLF	lung
26	chr1:155295800-155299800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:155295800-155299800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:155295800-155299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:155295800-155299800	Weak transcription	GM12878-XiMat	blood
30	chr1:155295800-155299800	Weak transcription	NH-A	brain
31	chr1:155295800-155301600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:155295800-155301600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:155295800-155306600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:155295800-155307200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:155296000-155298200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr1:155296000-155298400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr1:155296000-155298400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:155296000-155298400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr1:155296000-155298400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:155296000-155298800	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:155296000-155299600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:155296000-155299800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:155296000-155301400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:155296000-155301600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155296000-155301600	Strong transcription	Adipose Nuclei	Adipose
46	chr1:155296000-155307200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:155296000-155309000	Weak transcription	Stomach Mucosa	stomach
48	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:155296200-155298200	Strong transcription	Esophagus	oesophagus
50	chr1:155296200-155298400	Strong transcription	Placenta	Placenta

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