Variant report

Variant	rs11171953
Chromosome Location	chr12:57118363-57118364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCC1	chr12:57118201-57119501	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:57117479-57119648	MCF10A-Er-Src	breast:	n/a	n/a
3	TAF1	chr12:57118330-57119526	H1-neurons	neurons:	n/a	n/a
4	EGR1	chr12:57118329-57119677	HCT-116	colon:	n/a	chr12:57119130-57119143 chr12:57119219-57119228 chr12:57119131-57119145
5	SIX5	chr12:57118055-57120045	A549	lung:	n/a	n/a
6	MXI1	chr12:57117477-57119619	IMR90	lung:	n/a	n/a
7	TCF12	chr12:57117815-57119680	A549	lung:	n/a	n/a
8	POLR2A	chr12:57118316-57119835	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:57118210-57119640	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr12:57117432-57119689	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr12:57117473-57119574	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57117563-57119609	K562	blood:	n/a	n/a
13	MYC	chr12:57118050-57119802	A549	lung:	n/a	n/a
14	POLR2A	chr12:57118284-57119479	H1-hESC	embryonic stem cell:	n/a	n/a
15	GABPA	chr12:57118318-57119749	MCF-7	breast:	n/a	n/a
16	MTA3	chr12:57118046-57119838	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:57118272-57119897	K562	blood:	n/a	n/a
18	POLR2A	chr12:57117211-57119795	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:57117110-57119791	U87	brain:	n/a	n/a
20	POLR2A	chr12:57118093-57119545	K562	blood:	n/a	n/a
21	REST	chr12:57117823-57120002	A549	lung:	n/a	n/a
22	SIN3AK20	chr12:57118355-57119473	MCF-7	breast:	n/a	n/a
23	TAF1	chr12:57118217-57119762	ECC-1	luminal epithelium:	n/a	n/a
24	REST	chr12:57118069-57119827	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr12:57118344-57119553	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr12:57117326-57119712	ECC-1	luminal epithelium:	n/a	n/a
27	WRNIP1	chr12:57117616-57119527	GM12878	blood:	n/a	n/a
28	MAX	chr12:57118269-57119782	A549	lung:	n/a	n/a
29	POLR2A	chr12:57118234-57119731	HL-60	blood:	n/a	n/a
30	RUNX3	chr12:57118325-57119566	GM12878	blood:	n/a	chr12:57118886-57118901
31	POLR2A	chr12:57117480-57119732	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:57117445-57119614	U87	brain:	n/a	n/a
33	STAT5A	chr12:57118191-57119617	GM12878	blood:	n/a	n/a
34	GABPA	chr12:57118055-57119756	A549	lung:	n/a	n/a
35	GABPA	chr12:57118314-57119603	A549	lung:	n/a	n/a
36	CHD1	chr12:57116778-57119555	H1-hESC	embryonic stem cell:	n/a	n/a
37	PML	chr12:57118354-57119788	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:57117518-57119908	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr12:57117290-57119785	U87	brain:	n/a	n/a
40	TEAD4	chr12:57118275-57119647	K562	blood:	n/a	n/a
41	POLR2A	chr12:57117610-57119708	MCF-7	breast:	n/a	n/a
42	TAF1	chr12:57118105-57119519	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr12:57118356-57119566	ECC-1	luminal epithelium:	n/a	n/a
44	SIN3A	chr12:57117712-57119568	H1-hESC	embryonic stem cell:	n/a	chr12:57118847-57118858
45	UBTF	chr12:57118349-57119500	K562	blood:	n/a	n/a
46	HCFC1	chr12:57117481-57120192	Hela-S3	cervix:	n/a	n/a
47	MAX	chr12:57118281-57120043	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr12:57118295-57119639	Hela-S3	cervix:	n/a	n/a
49	BCL3	chr12:57118252-57119779	A549	lung:	n/a	chr12:57119127-57119136
50	POLR2A	chr12:57118345-57119583	Hela-S3	cervix:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57117942..57120205-chr12:57136575..57138739,2	K562	blood:
2	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
3	chr12:57116864..57121762-chr12:57140480..57149366,20	K562	blood:
4	chr12:57117154..57122230-chr12:57122473..57127950,8	K562	blood:
5	chr12:57118215..57120672-chr12:57479913..57482298,4	K562	blood:
6	chr12:57117403..57120848-chr12:57123897..57127833,5	MCF-7	breast:
7	chr12:57118003..57119898-chr12:57480309..57484526,4	K562	blood:
8	chr1:852957..855420-chr12:57116764..57119189,2	MCF-7	breast:
9	chr12:57117159..57119489-chr12:57914533..57916753,2	K562	blood:
10	chr12:57116631..57120456-chr12:57479265..57482503,6	MCF-7	breast:
11	chr12:57117928..57119916-chr12:57484796..57487169,2	K562	blood:
12	chr12:57026523..57033046-chr12:57115223..57120839,17	MCF-7	breast:
13	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
14	chr12:57117875..57121156-chr12:57480482..57484573,7	MCF-7	breast:
15	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:
16	chr12:57116832..57120019-chr12:57136517..57139167,4	K562	blood:
17	chr12:57038025..57041646-chr12:57113711..57120620,12	MCF-7	breast:
18	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
19	chr12:57117372..57120851-chr12:57140459..57146973,9	MCF-7	breast:
20	chr12:57036857..57041663-chr12:57115375..57121628,17	MCF-7	breast:
21	chr12:57117747..57120933-chr12:57504153..57507822,3	MCF-7	breast:
22	chr12:57036938..57041843-chr12:57115310..57120529,12	K562	blood:
23	chr12:57117044..57122605-chr12:57141917..57149366,15	K562	blood:
24	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
25	chr12:57029325..57031901-chr12:57117186..57120147,2	K562	blood:
26	chr12:57117536..57119496-chr12:57145407..57147566,3	MCF-7	breast:
27	chr12:56583529..56586106-chr12:57117314..57120068,2	MCF-7	breast:
28	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
29	chr12:57117946..57118711-chr15:102264069..102264623,2	NB4	blood:
30	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
31	chr12:57117761..57120217-chr12:57520609..57523242,3	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000166987	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000185418	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000223764	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000207031	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11171963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11172028	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11172032	1.00[EUR][1000 genomes]
rs11172040	1.00[EUR][1000 genomes]
rs11172041	1.00[EUR][1000 genomes]
rs11514185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300453	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302242	1.00[EUR][1000 genomes]
rs12306275	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306723	0.85[MKK][hapmap];1.00[TSI][hapmap]
rs12317052	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318580	0.85[MKK][hapmap];1.00[TSI][hapmap]
rs12318649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321709	0.85[MKK][hapmap];1.00[TSI][hapmap]
rs2657914	1.00[EUR][1000 genomes]
rs55935220	1.00[EUR][1000 genomes]
rs57115078	1.00[EUR][1000 genomes]
rs57173883	1.00[AMR][1000 genomes]
rs58416798	1.00[EUR][1000 genomes]
rs60396573	1.00[AMR][1000 genomes]
rs61633783	1.00[EUR][1000 genomes]
rs73326629	1.00[EUR][1000 genomes]
rs73326643	1.00[EUR][1000 genomes]
rs73326652	1.00[EUR][1000 genomes]
rs73326663	1.00[EUR][1000 genomes]
rs73326665	1.00[EUR][1000 genomes]
rs73326670	1.00[EUR][1000 genomes]
rs73326673	1.00[EUR][1000 genomes]
rs73326688	1.00[EUR][1000 genomes]
rs73326690	1.00[EUR][1000 genomes]
rs73326692	1.00[EUR][1000 genomes]
rs73326697	1.00[EUR][1000 genomes]
rs73326698	1.00[EUR][1000 genomes]
rs73337089	1.00[EUR][1000 genomes]
rs73337095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337101	1.00[EUR][1000 genomes]
rs73338912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338962	1.00[AMR][1000 genomes]
rs73338975	1.00[AMR][1000 genomes]
rs73338977	1.00[AMR][1000 genomes]
rs73338999	1.00[AMR][1000 genomes]
rs73341007	1.00[AMR][1000 genomes]
rs74093933	1.00[EUR][1000 genomes]
rs74093937	1.00[EUR][1000 genomes]
rs74093946	1.00[EUR][1000 genomes]
rs74093947	1.00[EUR][1000 genomes]
rs9919706	1.00[EUR][1000 genomes]
rs9919771	1.00[EUR][1000 genomes]
rs9919774	1.00[EUR][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	chr12:57113800-57118800	Transcr. at gene 5' and 3'	K562	blood
2	chr12:57114400-57118800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr12:57114400-57119200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:57114600-57118400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr12:57114800-57118800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr12:57115400-57118600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:57115400-57118800	Transcr. at gene 5' and 3'	A549	lung
8	chr12:57115800-57119800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:57116000-57118600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:57116200-57118400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:57116200-57118600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:57116400-57118400	Transcr. at gene 5' and 3'	Osteobl	bone
13	chr12:57116600-57118800	Active TSS	Right Atrium	heart
14	chr12:57116600-57120000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:57116800-57118400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr12:57116800-57119600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:57116800-57119800	Active TSS	Ovary	ovary
18	chr12:57116800-57119800	Active TSS	Psoas Muscle	Psoas
19	chr12:57117000-57119000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:57117000-57119600	Active TSS	Fetal Intestine Large	intestine
21	chr12:57117000-57119800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:57117000-57119800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:57117000-57119800	Active TSS	Right Ventricle	heart
24	chr12:57117000-57119800	Active TSS	HSMMtube	muscle
25	chr12:57117000-57120000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:57117200-57118600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:57117200-57119200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
28	chr12:57117200-57119400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:57117200-57119400	Active TSS	HMEC	breast
30	chr12:57117200-57119800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:57117200-57119800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:57117200-57120000	Active TSS	Aorta	Aorta
33	chr12:57117400-57118600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:57117400-57118600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr12:57117400-57119000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:57117400-57119400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:57117400-57119400	Active TSS	Fetal Thymus	thymus
38	chr12:57117400-57119600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr12:57117400-57119600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:57117400-57119600	Active TSS	Fetal Intestine Small	intestine
41	chr12:57117400-57119800	Active TSS	Fetal Kidney	kidney
42	chr12:57117400-57120000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:57117600-57118400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
44	chr12:57117600-57118600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:57117600-57118600	Transcr. at gene 5' and 3'	HSMM	muscle
46	chr12:57117600-57118800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr12:57117600-57119200	Active TSS	Gastric	stomach
48	chr12:57117600-57119400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:57117600-57119400	Active TSS	Esophagus	oesophagus
50	chr12:57117600-57119400	Active TSS	Placenta Amnion	Placenta Amnion

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