Variant report

Variant	rs12032227
Chromosome Location	chr1:153965870-153965871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153964964-153965887	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:153965118-153967275	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:153962781-153968523	GM12892	blood:	n/a	n/a
4	MTA3	chr1:153965046-153965879	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:153962895-153968418	K562	blood:	n/a	n/a
6	POLR2A	chr1:153962997-153968485	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:153965580-153967871	K562	blood:	n/a	n/a
8	POLR2A	chr1:153965052-153967793	GM18505	blood:	n/a	n/a
9	POLR2A	chr1:153965057-153968372	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:153964943-153967891	K562	blood:	n/a	n/a
11	POLR2A	chr1:153964847-153965890	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:153964976-153968525	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr1:153964922-153965872	U87	brain:	n/a	n/a
14	POLR2A	chr1:153965183-153968489	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:153965066-153967273	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:153962877-153968982	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:153964797-153965882	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:153965055-153965918	K562	blood:	n/a	n/a
19	POLR2A	chr1:153962912-153967853	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:153962884-153969250	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:153964793-153967747	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:153962902-153967332	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:153962875-153969575	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:153962850-153967268	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:153965038-153965881	GM12892	blood:	n/a	n/a
26	POLR2A	chr1:153965069-153969409	A549	lung:	n/a	n/a
27	POLR2A	chr1:153964987-153967906	GM12891	blood:	n/a	n/a
28	POLR2A	chr1:153962725-153967624	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr1:153962839-153967806	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153964813-153969956	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr1:153964996-153967890	GM19193	blood:	n/a	n/a
32	POLR2A	chr1:153965746-153968769	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:153965255-153967881	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:153965055-153966894	K562	blood:	n/a	n/a
35	POLR2A	chr1:153964981-153968501	K562	blood:	n/a	n/a
36	POLR2A	chr1:153964198-153968545	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr1:153965690-153965880	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:153962859-153969266	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:153965016-153968865	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:153962984-153968972	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153963924..153966450-chr1:154110406..154113402,2	K562	blood:
2	chr1:153791929..153794477-chr1:153963416..153966079,2	K562	blood:
3	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
4	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
5	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
6	chr1:153964844..153966669-chr1:154089731..154091606,2	MCF-7	breast:
7	chr1:153962189..153967020-chr1:154149779..154153923,7	MCF-7	breast:
8	chr1:153586138..153590435-chr1:153962533..153966036,4	K562	blood:
9	chr1:153965120..153966091-chr18:12838469..12839213,2	Hela-S3	cervix:
10	chr1:153965322..153967162-chr1:154193447..154195978,2	K562	blood:
11	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231416	TF binding region
ENSG00000143549	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143553	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11264824	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042836	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790688	0.85[AMR][1000 genomes]
rs61805529	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9700537	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 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	chr1:153963400-153966800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:153964000-153966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:153964000-153969800	Weak transcription	Esophagus	oesophagus
4	chr1:153964200-153966800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:153964200-153969000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:153964400-153966600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:153964400-153967600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:153964400-153968400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:153964600-153966400	Genic enhancers	Adipose Nuclei	Adipose
10	chr1:153964600-153966400	Genic enhancers	Fetal Thymus	thymus
11	chr1:153964600-153966600	Genic enhancers	Placenta	Placenta
12	chr1:153964600-153966800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr1:153964600-153966800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:153964600-153968400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr1:153964600-153968400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:153964600-153968400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:153964600-153968400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:153964600-153968400	Strong transcription	Thymus	Thymus
19	chr1:153964600-153969000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:153964800-153966200	Genic enhancers	Brain Cingulate Gyrus	brain
21	chr1:153964800-153966200	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:153964800-153966400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:153964800-153966400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:153964800-153966400	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr1:153964800-153966600	Genic enhancers	Brain Hippocampus Middle	brain
26	chr1:153964800-153966800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:153964800-153966800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:153964800-153967800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:153964800-153968400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:153964800-153968400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr1:153965000-153968400	Strong transcription	Aorta	Aorta
32	chr1:153965200-153966200	Weak transcription	Lung	lung
33	chr1:153965200-153967800	Strong transcription	Gastric	stomach
34	chr1:153965200-153968600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:153965400-153966000	Weak transcription	Spleen	Spleen
36	chr1:153965400-153966400	Weak transcription	Small Intestine	intestine
37	chr1:153965400-153966800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:153965400-153966800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:153965400-153966800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:153965400-153966800	Strong transcription	Colonic Mucosa	Colon
41	chr1:153965400-153966800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:153965400-153966800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:153965400-153966800	Strong transcription	HSMM	muscle
44	chr1:153965400-153966800	Strong transcription	HSMMtube	muscle
45	chr1:153965400-153967200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:153965400-153967200	Strong transcription	Fetal Lung	lung
47	chr1:153965400-153967400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:153965400-153967600	Strong transcription	Pancreas	Pancrea
49	chr1:153965400-153967800	Weak transcription	Right Ventricle	heart
50	chr1:153965400-153968000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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