Variant report

Variant	rs1166789
Chromosome Location	chr12:120706063-120706064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120705548-120706118	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120706015-120706065	HL-60	blood:	n/a
2	chr12:120706015-120706065	MCF10A-Er-Src	breast:	n/a
3	chr12:120706015-120706065	NB4	blood:	n/a
4	chr12:120706015-120706065	HCT-116	colon:	n/a
5	chr12:120706015-120706065	HCF	heart:	n/a
6	chr12:120706015-120706065	ovcar-3	ovarian:	n/a
7	chr12:120706015-120706065	HMEC	breast:	n/a
8	chr12:120706015-120706065	Caco-2	colon:	n/a
9	chr12:120706015-120706065	NHDF-neo	bronchial:	n/a
10	chr12:120706015-120706065	SK-N-SH	brain:	n/a
11	chr12:120706015-120706065	MCF-7	breast:	n/a
12	chr12:120706015-120706065	NH-A	brain:	n/a
13	chr12:120706015-120706065	ProgFib	skin:	n/a
14	chr12:120706015-120706065	PFSK-1	brain:	n/a
15	chr12:120706015-120706065	ECC-1	luminal epithelium:	n/a
16	chr12:120706015-120706065	HEEpiC	esophagus:	n/a
17	chr12:120706015-120706065	HNPCEpiC	eye:	n/a
18	chr12:120706015-120706065	LNCaP	prostate:	n/a
19	chr12:120706015-120706065	NT2-D1	testis:	n/a
20	chr12:120706015-120706065	SK-N-MC	brain:	n/a
21	chr12:120706015-120706065	PANC-1	pancreas:	n/a
22	chr12:120706015-120706065	SK-N-SH_RA	brain:	n/a
23	chr12:120706015-120706065	BJ	skin:	n/a
24	chr12:120706015-120706065	GM12892	blood:	n/a
25	chr12:120706015-120706065	CMK	blood:	n/a
26	chr12:120706015-120706065	HepG2	liver:	n/a
27	chr12:120706015-120706065	HCM	heart:	n/a
28	chr12:120706015-120706065	AG04450	lung:	fetal
29	chr12:120706015-120706065	Hela-S3	cervix:	n/a
30	chr12:120706015-120706065	AG10803	skin:	n/a
31	chr12:120706015-120706065	T-47D	breast:	n/a
32	chr12:120706015-120706065	SAEC	small airway:	n/a
33	chr12:120706015-120706065	AG09309	skin:	n/a
34	chr12:120706015-120706065	BE2_C	brain:	n/a
35	chr12:120706015-120706065	HUVEC	blood vessel:	n/a
36	chr12:120706015-120706065	AoSMC	blood vessel:	n/a
37	chr12:120706015-120706065	GM06990	blood:	n/a
38	chr12:120706015-120706065	AG09319	gingival:	n/a
39	chr12:120706015-120706065	SKMC	muscle:	n/a
40	chr12:120706015-120706065	PrEC	prostate:	n/a
41	chr12:120706015-120706065	HRE	kidney:	n/a
42	chr12:120706015-120706065	NHBE	bronchial:	n/a
43	chr12:120706015-120706065	K562	blood:	n/a
44	chr12:120706015-120706065	HCPEpiC	choroid plexus:	n/a
45	chr12:120706015-120706065	HAEpiC	amniotic membrane:	n/a
46	chr12:120706015-120706065	IMR90	lung:	fetal
47	chr12:120706015-120706065	GM12878	blood:	n/a
48	chr12:120706015-120706065	RPTEC	kidney:	n/a
49	chr12:120706015-120706065	A549	lung:	n/a
50	chr12:120706015-120706065	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
2	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
3	chr12:120703812..120708110-chr12:120710658..120713817,5	MCF-7	breast:
4	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
5	chr12:120686978..120689816-chr12:120703862..120706218,2	K562	blood:
6	chr12:120704439..120706873-chr12:120717613..120720324,2	MCF-7	breast:
7	chr12:120636814..120640513-chr12:120703939..120707132,3	K562	blood:

No data

Variant related genes	Relation type
PXN	TF binding region
PXN	CpG island
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1151821	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151822	0.87[ASN][1000 genomes]
rs1151823	0.95[ASN][1000 genomes]
rs1151826	0.95[ASN][1000 genomes]
rs1151828	0.95[ASN][1000 genomes]
rs1151833	0.95[ASN][1000 genomes]
rs1151835	0.95[ASN][1000 genomes]
rs1151836	0.95[ASN][1000 genomes]
rs1166788	0.95[ASN][1000 genomes]
rs1179386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12322327	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580333	0.90[ASN][1000 genomes]
rs1632619	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1634820	0.98[ASN][1000 genomes]
rs16950118	1.00[EUR][1000 genomes]
rs2239207	0.95[ASN][1000 genomes]
rs2283363	0.90[ASN][1000 genomes]
rs2701641	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs58777856	0.90[ASN][1000 genomes]
rs58919380	0.95[ASN][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60134107	0.95[ASN][1000 genomes]
rs60282545	0.90[ASN][1000 genomes]
rs61633133	0.95[ASN][1000 genomes]
rs7139220	1.00[EUR][1000 genomes]
rs71541558	0.91[ASN][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs7303640	1.00[EUR][1000 genomes]
rs73410812	1.00[EUR][1000 genomes]
rs73410821	1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120704000-120706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:120704000-120706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:120704000-120721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120704400-120714400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:120704600-120714200	Weak transcription	Placenta	Placenta
6	chr12:120705000-120706600	Enhancers	Fetal Intestine Large	intestine
7	chr12:120705000-120706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:120705200-120706200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:120705200-120706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:120705200-120706400	Enhancers	Liver	Liver
11	chr12:120705200-120706400	Enhancers	Colonic Mucosa	Colon
12	chr12:120705200-120706400	Enhancers	HUVEC	blood vessel
13	chr12:120705200-120706800	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:120705400-120706400	Enhancers	Fetal Intestine Small	intestine
15	chr12:120705400-120706800	Enhancers	Stomach Mucosa	stomach
16	chr12:120705600-120706200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:120705600-120706200	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:120705600-120706200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:120705600-120706200	Flanking Active TSS	HepG2	liver
20	chr12:120705800-120707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:120706000-120706200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:120706000-120706200	Enhancers	Fetal Heart	heart

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