Variant report

Variant	rs11833282
Chromosome Location	chr12:57082245-57082246
allele	A/C
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	RFX5	chr12:57080885-57082875	Hela-S3	cervix:	n/a	n/a
2	YY1	chr12:57081100-57082664	SK-N-SH_RA	brain:	n/a	chr12:57082211-57082225 chr12:57081924-57081935 chr12:57081830-57081844 chr12:57082562-57082572
3	MYC	chr12:57081607-57082519	MCF-7	breast:	n/a	chr12:57082338-57082347 chr12:57082476-57082485
4	TAF1	chr12:57081296-57082719	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXP2	chr12:57081866-57082440	PFSK-1	brain:	n/a	n/a
6	EGR1	chr12:57082142-57082381	GM12878	blood:	n/a	chr12:57082236-57082250 chr12:57082239-57082252
7	EP300	chr12:57081806-57083005	GM12878	blood:	n/a	chr12:57082476-57082485 chr12:57081924-57081940
8	SIN3AK20	chr12:57080810-57083299	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:57080897-57083269	Hela-S3	cervix:	n/a	n/a
10	E2F6	chr12:57081731-57082899	H1-hESC	embryonic stem cell:	n/a	chr12:57082015-57082030 chr12:57082116-57082125 chr12:57082214-57082224 chr12:57082074-57082084 chr12:57082208-57082218 chr12:57081831-57081841
11	NFIC	chr12:57080618-57083025	GM12878	blood:	n/a	n/a
12	MYC	chr12:57081856-57082418	HepG2	liver:	n/a	chr12:57082338-57082347
13	POLR2A	chr12:57081152-57082793	GM10847	blood:	n/a	n/a
14	MYC	chr12:57080933-57083397	K562	blood:	n/a	chr12:57082338-57082347 chr12:57081301-57081310 chr12:57082476-57082485
15	TCF12	chr12:57080920-57082733	ECC-1	luminal epithelium:	n/a	n/a
16	ZBTB33	chr12:57082076-57082643	GM12878	blood:	n/a	chr12:57082299-57082314
17	TAF1	chr12:57082236-57082685	GM12892	blood:	n/a	n/a
18	HEY1	chr12:57082211-57083683	K562	blood:	n/a	n/a
19	POLR2A	chr12:57082210-57082556	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr12:57081002-57082712	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:57081914-57082920	GM12878	blood:	n/a	n/a
22	MAX	chr12:57082034-57083016	H1-hESC	embryonic stem cell:	n/a	chr12:57082338-57082347 chr12:57082476-57082485
23	REST	chr12:57081648-57082715	PFSK-1	brain:	n/a	chr12:57082586-57082595 chr12:57082189-57082197
24	ZBTB33	chr12:57082168-57082510	HepG2	liver:	n/a	chr12:57082299-57082314
25	EP300	chr12:57081791-57082477	HepG2	liver:	n/a	chr12:57081924-57081940
26	ZBTB33	chr12:57081764-57082855	A549	lung:	n/a	chr12:57082299-57082314
27	PML	chr12:57081561-57083397	K562	blood:	n/a	chr12:57082478-57082487
28	TAF1	chr12:57082240-57082528	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr12:57080769-57083107	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:57080867-57083692	K562	blood:	n/a	n/a
31	POLR2A	chr12:57081270-57082494	HepG2	liver:	n/a	n/a
32	E2F4	chr12:57081322-57082670	K562	blood:	n/a	chr12:57082015-57082030 chr12:57081652-57081664 chr12:57082116-57082125 chr12:57082214-57082224 chr12:57082074-57082084 chr12:57082208-57082218 chr12:57081831-57081841
33	BRCA1	chr12:57081870-57083013	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F1	chr12:57081709-57082697	Hela-S3	cervix:	n/a	chr12:57082015-57082030 chr12:57082116-57082125 chr12:57082214-57082224 chr12:57082074-57082084 chr12:57082208-57082218 chr12:57081831-57081841
35	TAF1	chr12:57081675-57082868	H1-neurons	neurons:	n/a	n/a
36	MYC	chr12:57081448-57082888	H1-hESC	embryonic stem cell:	n/a	chr12:57082338-57082347 chr12:57082476-57082485
37	SP4	chr12:57081722-57082594	H1-hESC	embryonic stem cell:	n/a	chr12:57082171-57082187 chr12:57082173-57082184 chr12:57082247-57082263
38	PML	chr12:57081670-57082820	GM12878	blood:	n/a	chr12:57082478-57082487
39	BACH1	chr12:57081841-57082665	H1-hESC	embryonic stem cell:	n/a	n/a
40	RELA	chr12:57080975-57083226	GM19193	blood:	n/a	n/a
41	FOXM1	chr12:57080721-57083385	GM12878	blood:	n/a	n/a
42	POU2F2	chr12:57081584-57082678	GM12891	blood:	n/a	chr12:57082243-57082255 chr12:57082232-57082244 chr12:57082278-57082290
43	EP300	chr12:57081697-57082540	T-47D	breast:	n/a	chr12:57082476-57082485 chr12:57081924-57081940
44	YY1	chr12:57080965-57083104	A549	lung:	n/a	chr12:57082211-57082225 chr12:57081924-57081935 chr12:57081830-57081844 chr12:57082562-57082572
45	SIN3AK20	chr12:57082171-57082523	PFSK-1	brain:	n/a	n/a
46	EP300	chr12:57081539-57082680	GM12878	blood:	n/a	chr12:57082476-57082485 chr12:57081924-57081940
47	ZNF143	chr12:57081705-57082605	GM12878	blood:	n/a	chr12:57081949-57081964 chr12:57082070-57082080 chr12:57081946-57081965 chr12:57081942-57081960
48	MAX	chr12:57080948-57083276	Hela-S3	cervix:	n/a	chr12:57082338-57082347 chr12:57081301-57081310 chr12:57082476-57082485
49	ZNF143	chr12:57081757-57082687	Hela-S3	cervix:	n/a	chr12:57081949-57081964 chr12:57082070-57082080 chr12:57081946-57081965 chr12:57081942-57081960
50	EP300	chr12:57081826-57083471	A549	lung:	n/a	chr12:57083018-57083031 chr12:57082476-57082485 chr12:57081924-57081940

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57082200-57082250	CMK	blood:	n/a
2	chr12:57082200-57082250	SK-N-MC	brain:	n/a
3	chr12:57082200-57082250	K562	blood:	n/a
4	chr12:57082200-57082250	HRE	kidney:	n/a
5	chr12:57082200-57082250	HNPCEpiC	eye:	n/a
6	chr12:57082200-57082250	RPTEC	kidney:	n/a
7	chr12:57082200-57082250	PANC-1	pancreas:	n/a
8	chr12:57082200-57082250	HUVEC	blood vessel:	n/a
9	chr12:57082200-57082250	HEK293	kidney:	embryo
10	chr12:57082200-57082250	HEEpiC	esophagus:	n/a
11	chr12:57082200-57082250	HRCEpiC	kidney:	n/a
12	chr12:57082200-57082250	NH-A	brain:	n/a
13	chr12:57082200-57082250	IMR90	lung:	fetal
14	chr12:57082200-57082250	BE2_C	brain:	n/a
15	chr12:57082200-57082250	MCF10A-Er-Src	breast:	n/a
16	chr12:57082200-57082250	AG04450	lung:	fetal
17	chr12:57082200-57082250	PFSK-1	brain:	n/a
18	chr12:57082200-57082250	AG09319	gingival:	n/a
19	chr12:57082200-57082250	ProgFib	skin:	n/a
20	chr12:57082200-57082250	NHBE	bronchial:	n/a
21	chr12:57082200-57082250	HCT-116	colon:	n/a
22	chr12:57082200-57082250	AG09309	skin:	n/a
23	chr12:57082200-57082250	Jurkat	blood:	n/a
24	chr12:57082200-57082250	LNCaP	prostate:	n/a
25	chr12:57082200-57082250	AoSMC	blood vessel:	n/a
26	chr12:57082200-57082250	GM12892	blood:	n/a
27	chr12:57082200-57082250	H1-hESC	embryonic stem cell:	embryo
28	chr12:57082200-57082250	HCPEpiC	choroid plexus:	n/a
29	chr12:57082200-57082250	SK-N-SH	brain:	n/a
30	chr12:57082200-57082250	BJ	skin:	n/a
31	chr12:57082200-57082250	MCF-7	breast:	n/a
32	chr12:57082200-57082250	HCF	heart:	n/a
33	chr12:57082200-57082250	GM12878	blood:	n/a
34	chr12:57082200-57082250	HRPEpiC	eye:	n/a
35	chr12:57082200-57082250	NB4	blood:	n/a
36	chr12:57082200-57082250	NHDF-neo	bronchial:	n/a
37	chr12:57082200-57082250	ECC-1	luminal epithelium:	n/a
38	chr12:57082200-57082250	HepG2	liver:	n/a
39	chr12:57082200-57082250	HL-60	blood:	n/a
40	chr12:57082200-57082250	GM19239	blood:	n/a
41	chr12:57082200-57082250	HMEC	breast:	n/a
42	chr12:57082200-57082250	Hepatocyte	liver:	n/a
43	chr12:57082200-57082250	T-47D	breast:	n/a
44	chr12:57082200-57082250	AG10803	skin:	n/a
45	chr12:57082200-57082250	Hela-S3	cervix:	n/a
46	chr12:57082200-57082250	ovcar-3	ovarian:	n/a
47	chr12:57082200-57082250	A549	lung:	n/a
48	chr12:57082200-57082250	NT2-D1	testis:	n/a
49	chr12:57082200-57082250	HIPEpiC	eye:	n/a
50	chr12:57082200-57082250	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:57026160..57032326-chr12:57079667..57084551,17	K562	blood:
2	chr12:57080844..57082659-chr12:58144695..58147272,2	K562	blood:
3	chr1:33283234..33283959-chr12:57082143..57082869,2	Hela-S3	cervix:
4	chr12:57081777..57082538-chr12:124457598..124458129,2	HCT-116	colon:
5	chr11:17229082..17229842-chr12:57082035..57082806,2	Hela-S3	cervix:
6	chr12:57082219..57082870-chr7:35840800..35841349,2	Hela-S3	cervix:
7	chr12:56726663..56729194-chr12:57081195..57082711,2	MCF-7	breast:
8	chr12:57065416..57068047-chr12:57082190..57083976,3	MCF-7	breast:
9	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
10	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:
11	chr12:56913236..56916197-chr12:57081511..57083245,2	K562	blood:
12	chr12:57081672..57082267-chr2:149402257..149402820,2	Hela-S3	cervix:
13	chr12:56510222..56511940-chr12:57081446..57083093,2	K562	blood:
14	chr12:57037257..57041566-chr12:57079256..57083231,8	MCF-7	breast:
15	chr12:57037950..57041719-chr12:57080496..57084678,10	K562	blood:
16	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
17	chr12:57027161..57032164-chr12:57080546..57084524,13	MCF-7	breast:
18	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
19	chr10:74033084..74033824-chr12:57082123..57082930,2	Hela-S3	cervix:
20	chr12:57080587..57084416-chr12:57143537..57149136,7	MCF-7	breast:
21	chr12:57082137..57082826-chr21:43373483..43374081,2	Hela-S3	cervix:
22	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:
23	chr12:57035919..57041993-chr12:57078486..57083961,15	MCF-7	breast:
24	chr12:57082176..57083030-chr15:93425152..93425714,2	Hela-S3	cervix:
25	chr12:57081705..57082520-chr6:74230123..74230932,2	HCT-116	colon:
26	chr1:151512129..151512984-chr12:57082236..57083204,2	Hela-S3	cervix:
27	chr12:57030574..57031167-chr12:57081950..57082884,2	K562	blood:
28	chr12:57081576..57082654-chr12:57118658..57119447,3	MCF-7	breast:
29	chr10:43932113..43932937-chr12:57081412..57082279,2	Hela-S3	cervix:
30	chr12:57081939..57082878-chr12:95611108..95611912,2	NB4	blood:
31	chr12:56210928..56213016-chr12:57081918..57083884,2	K562	blood:
32	chr12:57037416..57042033-chr12:57076746..57084678,17	K562	blood:
33	chr12:57082188..57083012-chr19:36500019..36500573,2	HCT-116	colon:
34	chr12:57080752..57082860-chr12:57489722..57492720,2	K562	blood:
35	chr12:57022393..57025472-chr12:57080099..57082971,5	MCF-7	breast:
36	chr12:57081853..57084367-chr12:57144672..57147569,5	K562	blood:
37	chr12:57078008..57083064-chr12:57107591..57112002,6	MCF-7	breast:
38	chr12:57082182..57082905-chr6:160182562..160183508,2	NB4	blood:
39	chr12:57028651..57034442-chr12:57080412..57084452,17	K562	blood:
40	chr12:57080423..57083977-chr12:57143486..57147763,4	K562	blood:
41	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
42	chr12:57082206..57082785-chr12:57103455..57104262,2	NB4	blood:
43	chr12:57081960..57082470-chr18:12991251..12991751,2	NB4	blood:
44	chr12:57023932..57026516-chr12:57081163..57083127,2	MCF-7	breast:
45	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
46	chr12:57079557..57083885-chr12:57143480..57147449,6	MCF-7	breast:

Variant related genes	Relation type
PTGES3	TF binding region
PTGES3	CpG island
ENSG00000070081	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000134684	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000180263	Chromatin interaction
ENSG00000028203	Chromatin interaction
ENSG00000076067	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000116497	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000157617	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000122545	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000135999	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11829496	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11833209	0.90[AFR][1000 genomes]
rs11833254	0.87[AFR][1000 genomes]
rs11837737	0.80[AFR][1000 genomes]
rs11837790	0.90[AFR][1000 genomes]
rs11838315	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17118901	0.86[AFR][1000 genomes]
rs17118921	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17118953	0.90[AFR][1000 genomes]
rs4262757	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55962252	0.94[AFR][1000 genomes]
rs56258039	0.86[AFR][1000 genomes]
rs57406430	0.86[AFR][1000 genomes]
rs60574031	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7136370	0.87[AFR][1000 genomes]
rs7307573	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74091637	0.83[AFR][1000 genomes]
rs7954160	0.87[AFR][1000 genomes]
rs7958515	0.87[AFR][1000 genomes]
rs7977632	0.84[AFR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 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	chr12:57077000-57083800	Active TSS	GM12878-XiMat	blood
2	chr12:57077200-57083400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:57077400-57083200	Active TSS	Colonic Mucosa	Colon
4	chr12:57077800-57082400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:57077800-57082600	Active TSS	NHLF	lung
6	chr12:57077800-57083000	Active TSS	Psoas Muscle	Psoas
7	chr12:57077800-57083200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:57077800-57083200	Active TSS	Ovary	ovary
9	chr12:57077800-57083200	Active TSS	Right Ventricle	heart
10	chr12:57078000-57082600	Active TSS	Fetal Kidney	kidney
11	chr12:57078200-57082400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:57078200-57083000	Active TSS	HSMM	muscle
13	chr12:57078400-57083400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:57078600-57082400	Active TSS	Pancreas	Pancrea
15	chr12:57078600-57082400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:57078600-57083000	Active TSS	HMEC	breast
17	chr12:57078600-57083800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:57078800-57082600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:57078800-57082800	Active TSS	Thymus	Thymus
20	chr12:57078800-57083800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:57078800-57084200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:57079000-57082400	Active TSS	Placenta	Placenta
23	chr12:57079000-57082400	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:57079000-57082600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:57079000-57082600	Active TSS	Duodenum Mucosa	Duodenum
26	chr12:57079000-57082800	Active TSS	Brain Hippocampus Middle	brain
27	chr12:57079000-57083000	Active TSS	Liver	Liver
28	chr12:57079000-57083200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:57079000-57083400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:57079000-57083400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:57079000-57083600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:57079200-57082400	Active TSS	Hela-S3	cervix
33	chr12:57079200-57083000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:57079200-57083600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:57079400-57082400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:57079400-57083800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr12:57079600-57082600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:57079600-57082600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:57079600-57083200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:57079600-57083200	Active TSS	Esophagus	oesophagus
41	chr12:57079800-57082600	Active TSS	Stomach Mucosa	stomach
42	chr12:57079800-57082800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:57079800-57083000	Active TSS	Fetal Intestine Large	intestine
44	chr12:57079800-57083200	Active TSS	Gastric	stomach
45	chr12:57079800-57083400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:57079800-57083400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:57080000-57082400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:57080000-57082400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:57080000-57082400	Active TSS	Colon Smooth Muscle	Colon
50	chr12:57080000-57082400	Active TSS	Fetal Brain Female	brain

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