Variant report

Variant	rs11465742
Chromosome Location	chr12:56731664-56731665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56731390-56731772	K562	blood:	n/a	n/a
2	JUN	chr12:56731205-56732769	K562	blood:	n/a	chr12:56731829-56731842 chr12:56732589-56732599 chr12:56732589-56732599 chr12:56731822-56731831 chr12:56732590-56732599 chr12:56732589-56732599 chr12:56732589-56732599
3	EP300	chr12:56731443-56731896	K562	blood:	n/a	chr12:56731649-56731663
4	ZMIZ1	chr12:56731552-56731787	K562	blood:	n/a	n/a
5	MAZ	chr12:56731465-56731838	K562	blood:	n/a	chr12:56731639-56731648
6	CUX1	chr12:56731521-56732086	K562	blood:	n/a	n/a
7	CEBPB	chr12:56731472-56731847	HepG2	liver:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
8	ATF3	chr12:56731388-56731864	K562	blood:	n/a	chr12:56731526-56731537 chr12:56731820-56731830 chr12:56731821-56731832 chr12:56731820-56731833 chr12:56731822-56731830 chr12:56731819-56731830 chr12:56731820-56731833 chr12:56731820-56731831 chr12:56731819-56731834 chr12:56731524-56731537 chr12:56731823-56731830
9	ATF1	chr12:56731534-56731882	K562	blood:	n/a	n/a
10	CEBPB	chr12:56731467-56731829	Hela-S3	cervix:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
11	CEBPB	chr12:56731511-56731842	HepG2	liver:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
12	ZNF384	chr12:56731526-56731675	K562	blood:	n/a	n/a
13	CEBPB	chr12:56731393-56731934	K562	blood:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
14	JUND	chr12:56731445-56732135	K562	blood:	n/a	chr12:56731822-56731831
15	CEBPB	chr12:56731413-56731891	K562	blood:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
16	POLR2A	chr12:56731529-56732063	K562	blood:	n/a	n/a
17	MYC	chr12:56731437-56731857	K562	blood:	n/a	chr12:56731639-56731648
18	USF2	chr12:56731628-56731724	GM12878	blood:	n/a	n/a
19	CEBPB	chr12:56731528-56731746	H1-hESC	embryonic stem cell:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
20	CEBPB	chr12:56731509-56731718	HepG2	liver:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
21	CEBPB	chr12:56731477-56731826	IMR90	lung:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
22	MAX	chr12:56731512-56731844	K562	blood:	n/a	chr12:56731639-56731648
23	MAFK	chr12:56731400-56731857	K562	blood:	n/a	n/a
24	RCOR1	chr12:56731480-56731879	K562	blood:	n/a	n/a
25	TEAD4	chr12:56731466-56732022	K562	blood:	n/a	n/a
26	JUN	chr12:56731653-56731981	HepG2	liver:	n/a	chr12:56731829-56731842 chr12:56731822-56731831
27	POLR2A	chr12:56731489-56732278	K562	blood:	n/a	n/a
28	CEBPB	chr12:56731464-56731797	K562	blood:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
29	JUND	chr12:56731594-56732003	HepG2	liver:	n/a	chr12:56731822-56731831
30	TBL1XR1	chr12:56731582-56731767	K562	blood:	n/a	n/a
31	ATF3	chr12:56731505-56731778	K562	blood:	n/a	chr12:56731526-56731537 chr12:56731524-56731537
32	CEBPB	chr12:56731469-56731827	A549	lung:	n/a	chr12:56731652-56731663 chr12:56731651-56731664 chr12:56731636-56731647
33	POLR2A	chr12:56731464-56731682	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56727184..56732099-chr12:56751309..56755132,9	K562	blood:
2	chr12:56692746..56696004-chr12:56729098..56732987,4	K562	blood:
3	chr12:56510218..56512246-chr12:56729778..56732037,2	K562	blood:
4	chr12:56703173..56705096-chr12:56729823..56731821,2	K562	blood:
5	chr12:56729889..56732164-chr12:56815272..56818052,2	K562	blood:
6	chr12:56709573..56711598-chr12:56730784..56732305,2	K562	blood:
7	chr12:56694315..56696135-chr12:56730935..56732987,2	K562	blood:

Variant related genes	Relation type
IL23A	TF binding region
PAN2	TF binding region
ENSG00000139641	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17118576	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56728400-56736400	Weak transcription	Ovary	ovary
2	chr12:56728400-56736400	Weak transcription	Small Intestine	intestine
3	chr12:56728600-56731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:56728600-56731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:56728600-56732400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:56728600-56732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:56728600-56732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56728600-56732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:56728600-56732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:56728600-56732600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:56728600-56732600	Weak transcription	NH-A	brain
12	chr12:56728600-56732800	Weak transcription	Esophagus	oesophagus
13	chr12:56728600-56733000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:56728600-56733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:56728600-56733600	Weak transcription	Right Atrium	heart
16	chr12:56728600-56734000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:56728600-56734800	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:56728600-56735000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:56728600-56735000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:56728600-56735200	Weak transcription	Fetal Stomach	stomach
21	chr12:56728600-56735200	Weak transcription	Left Ventricle	heart
22	chr12:56728600-56736400	Weak transcription	Fetal Brain Female	brain
23	chr12:56728600-56736400	Weak transcription	Fetal Kidney	kidney
24	chr12:56728600-56736400	Weak transcription	Gastric	stomach
25	chr12:56728600-56736400	Weak transcription	Pancreas	Pancrea
26	chr12:56728600-56736400	Weak transcription	NHLF	lung
27	chr12:56728600-56736600	Weak transcription	Aorta	Aorta
28	chr12:56728600-56736800	Weak transcription	Colonic Mucosa	Colon
29	chr12:56728600-56739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:56728600-56748200	Weak transcription	Fetal Brain Male	brain
31	chr12:56728800-56731800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:56728800-56731800	Weak transcription	Thymus	Thymus
33	chr12:56728800-56732200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:56728800-56732400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:56728800-56732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:56728800-56732600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:56728800-56732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:56728800-56732600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:56728800-56732800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:56728800-56733600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:56728800-56734400	Weak transcription	Osteobl	bone
42	chr12:56728800-56734800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:56728800-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:56728800-56735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:56728800-56735000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:56728800-56735000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:56728800-56735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:56728800-56735000	Weak transcription	Adipose Nuclei	Adipose
49	chr12:56728800-56735000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:56728800-56735000	Weak transcription	HSMM	muscle

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