Variant report

Variant	rs11612813
Chromosome Location	chr12:104850540-104850541
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	chr12:104850467-104850719	A549	lung:	n/a	n/a
2	TBP	chr12:104850490-104850919	GM12878	blood:	n/a	n/a
3	ZBTB7A	chr12:104850389-104850904	K562	blood:	n/a	n/a
4	EGR1	chr12:104850332-104850669	GM12878	blood:	n/a	chr12:104850431-104850444 chr12:104850434-104850443
5	CTCF	chr12:104850480-104850630	BE2_C	brain:	n/a	n/a
6	CTCF	chr12:104850440-104850590	GM12873	blood:	n/a	n/a
7	JUND	chr12:104850144-104851511	GM12878	blood:	n/a	n/a
8	RXRA	chr12:104850295-104850778	GM12878	blood:	n/a	n/a
9	CHD2	chr12:104850444-104850680	K562	blood:	n/a	n/a
10	CTCF	chr12:104850377-104850552	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:104850379-104850562	GM19240	blood:	n/a	n/a
12	ATF3	chr12:104850336-104850972	A549	lung:	n/a	n/a
13	CTCF	chr12:104850440-104850590	GM12867	blood:	n/a	n/a
14	POLR2A	chr12:104850301-104851750	HL-60	blood:	n/a	n/a
15	ARID3A	chr12:104850504-104850807	K562	blood:	n/a	n/a
16	USF1	chr12:104850510-104850783	SK-N-SH_RA	brain:	n/a	n/a
17	BCLAF1	chr12:104850317-104850752	GM12878	blood:	n/a	chr12:104850647-104850656 chr12:104850400-104850413 chr12:104850628-104850637
18	GABPA	chr12:104850345-104850693	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3AK20	chr12:104850482-104851549	PANC-1	pancreas:	n/a	n/a
20	RAD21	chr12:104850357-104850612	K562	blood:	n/a	n/a
21	CTCF	chr12:104850083-104851946	SK-N-SH	brain:	n/a	n/a
22	CHD2	chr12:104850439-104850758	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr12:104850240-104851428	ECC-1	luminal epithelium:	n/a	chr12:104851310-104851319
24	TCF12	chr12:104850393-104850697	H1-hESC	embryonic stem cell:	n/a	n/a
25	BCL3	chr12:104850047-104850779	A549	lung:	n/a	chr12:104850647-104850656 chr12:104850400-104850413 chr12:104850628-104850637
26	TCF12	chr12:104850230-104850903	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr12:104850327-104851019	K562	blood:	n/a	chr12:104850892-104850904 chr12:104850895-104850907 chr12:104850526-104850538 chr12:104850896-104850908 chr12:104850834-104850846
28	POLR2A	chr12:104850333-104853331	GM18505	blood:	n/a	n/a
29	YY1	chr12:104850365-104850831	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:104850354-104851032	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr12:104850300-104851140	ECC-1	luminal epithelium:	n/a	n/a
32	CCNT2	chr12:104850361-104853154	K562	blood:	n/a	chr12:104850627-104850636 chr12:104852009-104852018
33	RAD21	chr12:104850292-104850848	A549	lung:	n/a	n/a
34	CUX1	chr12:104850359-104850761	GM12878	blood:	n/a	n/a
35	POU2F2	chr12:104850434-104850645	GM12878	blood:	n/a	n/a
36	TAF1	chr12:104850302-104851543	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr12:104850287-104850746	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:104850340-104853241	GM15510	blood:	n/a	n/a
39	POU2F2	chr12:104850336-104850992	GM12878	blood:	n/a	chr12:104850834-104850846
40	KAP1	chr12:104850332-104851507	HEK293	kidney:	n/a	n/a
41	POLR2A	chr12:104850350-104850977	IMR90	lung:	n/a	n/a
42	ZNF143	chr12:104850359-104850744	K562	blood:	n/a	chr12:104850387-104850405
43	CTCF	chr12:104850400-104850550	AG04449	skin:	n/a	n/a
44	JUND	chr12:104850401-104850741	H1-hESC	embryonic stem cell:	n/a	n/a
45	NANOG	chr12:104850403-104850732	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFIC	chr12:104850266-104850739	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr12:104850380-104850549	K562	blood:	n/a	n/a
48	POLR2A	chr12:104850118-104851634	PBDE	blood:	n/a	n/a
49	MAX	chr12:104850380-104850793	K562	blood:	n/a	n/a
50	MAX	chr12:104850318-104851532	K562	blood:	n/a	n/a

Variant related genes	Relation type
CHST11	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11111969	1.00[ASN][1000 genomes]
rs11112015	1.00[ASN][1000 genomes]
rs12826196	1.00[ASN][1000 genomes]
rs12828655	1.00[ASN][1000 genomes]
rs2706272	1.00[ASN][1000 genomes]
rs35453744	1.00[ASN][1000 genomes]
rs4964733	1.00[ASN][1000 genomes]
rs4964778	1.00[ASN][1000 genomes]
rs61937668	1.00[ASN][1000 genomes]
rs7294701	1.00[ASN][1000 genomes]
rs7978310	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104849600-104853200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:104849600-104853200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:104849800-104850600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:104849800-104850600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104849800-104851000	Active TSS	Brain Germinal Matrix	brain
6	chr12:104849800-104851800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:104849800-104851800	Active TSS	Fetal Brain Female	brain
8	chr12:104849800-104852000	Active TSS	Brain Cingulate Gyrus	brain
9	chr12:104849800-104852000	Active TSS	Right Ventricle	heart
10	chr12:104849800-104852400	Active TSS	Brain Angular Gyrus	brain
11	chr12:104849800-104852600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:104849800-104852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:104849800-104852600	Active TSS	HSMMtube	muscle
14	chr12:104849800-104852800	Active TSS	NHLF	lung
15	chr12:104849800-104853000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104849800-104853400	Active TSS	Aorta	Aorta
17	chr12:104849800-104853600	Active TSS	Right Atrium	heart
18	chr12:104850000-104850600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr12:104850000-104850800	Active TSS	Colonic Mucosa	Colon
20	chr12:104850000-104851000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:104850000-104851400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:104850000-104851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104850000-104851400	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr12:104850000-104851800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:104850000-104851800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:104850000-104852000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:104850000-104852000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:104850000-104852000	Active TSS	Brain Substantia Nigra	brain
29	chr12:104850000-104852000	Bivalent/Poised TSS	HepG2	liver
30	chr12:104850000-104852000	Active TSS	HSMM	muscle
31	chr12:104850000-104852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:104850000-104852600	Flanking Active TSS	Liver	Liver
33	chr12:104850000-104852800	Active TSS	Ovary	ovary
34	chr12:104850000-104853000	Active TSS	Left Ventricle	heart
35	chr12:104850000-104853400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr12:104850000-104853400	Active TSS	Fetal Kidney	kidney
37	chr12:104850000-104853400	Active TSS	Gastric	stomach
38	chr12:104850000-104853400	Active TSS	Pancreas	Pancrea
39	chr12:104850000-104853600	Active TSS	NHDF-Ad	bronchial
40	chr12:104850000-104853800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:104850200-104850800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:104850200-104850800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr12:104850200-104851000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:104850200-104851000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr12:104850200-104851000	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:104850200-104851200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:104850200-104851400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:104850200-104851600	Active TSS	Placenta	Placenta
49	chr12:104850200-104851800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:104850200-104851800	Bivalent/Poised TSS	Stomach Mucosa	stomach

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