Variant report

Variant	rs2271193
Chromosome Location	chr12:56367342-56367343
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	TFAP2C	chr12:56366773-56368453	Hela-S3	cervix:	n/a	chr12:56367814-56367829
2	POLR2A	chr12:56366669-56368232	GM12878	blood:	n/a	n/a
3	SMARCB1	chr12:56366902-56368471	Hela-S3	cervix:	n/a	n/a
4	SRF	chr12:56367069-56368122	MCF-7	breast:	n/a	chr12:56368052-56368062
5	POLR2A	chr12:56367129-56368253	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:56367288-56367401	A549	lung:	n/a	n/a
7	MAZ	chr12:56366767-56368227	GM12878	blood:	n/a	n/a
8	EP300	chr12:56366927-56367962	K562	blood:	n/a	n/a
9	TFAP2A	chr12:56366912-56368440	Hela-S3	cervix:	n/a	chr12:56367818-56367829 chr12:56368319-56368327 chr12:56367818-56367829 chr12:56367818-56367829 chr12:56368319-56368327 chr12:56367939-56367951 chr12:56367939-56367951 chr12:56367819-56367834 chr12:56367201-56367216 chr12:56368319-56368327 chr12:56367818-56367829 chr12:56367818-56367829
10	POLR2A	chr12:56366514-56368536	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:56367098-56368175	PANC-1	pancreas:	n/a	n/a
12	YY1	chr12:56367193-56368335	ECC-1	luminal epithelium:	n/a	chr12:56368145-56368159 chr12:56368150-56368159 chr12:56368137-56368148
13	STAT5A	chr12:56366627-56367502	GM12878	blood:	n/a	n/a
14	RELA	chr12:56366750-56367980	GM19099	blood:	n/a	n/a
15	POLR2A	chr12:56366998-56368135	U87	brain:	n/a	n/a
16	JUND	chr12:56367187-56368018	A549	lung:	n/a	n/a
17	SP1	chr12:56367076-56368340	HCT-116	colon:	n/a	chr12:56367381-56367391 chr12:56367814-56367823 chr12:56367813-56367825 chr12:56367381-56367390 chr12:56367833-56367847 chr12:56367652-56367673 chr12:56367380-56367392 chr12:56367377-56367391 chr12:56367813-56367825 chr12:56367382-56367391 chr12:56368051-56368063 chr12:56368051-56368063 chr12:56367815-56367824 chr12:56367588-56367599 chr12:56367814-56367824 chr12:56367814-56367823 chr12:56367380-56367392
18	POLR2A	chr12:56367122-56368474	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:56366674-56368460	Hela-S3	cervix:	n/a	n/a
20	NFYA	chr12:56367263-56367964	GM12878	blood:	n/a	n/a
21	SP2	chr12:56367223-56368001	K562	blood:	n/a	chr12:56367622-56367645 chr12:56367588-56367603 chr12:56367560-56367583 chr12:56367665-56367688
22	TCF12	chr12:56366964-56368286	A549	lung:	n/a	chr12:56367843-56367853
23	ATF3	chr12:56367105-56367950	K562	blood:	n/a	chr12:56367262-56367275
24	ARID3A	chr12:56367269-56368012	K562	blood:	n/a	n/a
25	POLR2A	chr12:56366830-56368114	K562	blood:	n/a	n/a
26	SMC3	chr12:56366789-56368449	Hela-S3	cervix:	n/a	n/a
27	TAF1	chr12:56367032-56368028	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr12:56366753-56368449	Hela-S3	cervix:	n/a	chr12:56367094-56367106
29	POLR2A	chr12:56367201-56367471	HepG2	liver:	n/a	n/a
30	CEBPZ	chr12:56367161-56367954	HepG2	liver:	n/a	n/a
31	YY1	chr12:56367223-56368123	K562	blood:	n/a	n/a
32	MAX	chr12:56367264-56368132	A549	lung:	n/a	n/a
33	FOS	chr12:56366917-56367875	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr12:56367152-56367978	T-47D	breast:	n/a	n/a
35	POLR2A	chr12:56367280-56367443	A549	lung:	n/a	n/a
36	TBP	chr12:56367250-56368071	HepG2	liver:	n/a	n/a
37	YY1	chr12:56367265-56368021	SK-N-SH_RA	brain:	n/a	n/a
38	CEBPB	chr12:56367333-56367465	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr12:56367079-56368032	A549	lung:	n/a	n/a
40	MAZ	chr12:56366786-56368407	K562	blood:	n/a	n/a
41	MXI1	chr12:56367185-56368359	HepG2	liver:	n/a	n/a
42	GABPA	chr12:56367102-56368036	SK-N-SH	brain:	n/a	n/a
43	IRF1	chr12:56366738-56368057	K562	blood:	n/a	chr12:56367522-56367531 chr12:56367065-56367085 chr12:56367063-56367077 chr12:56367067-56367081 chr12:56367802-56367811 chr12:56367521-56367530 chr12:56367476-56367483 chr12:56367067-56367077 chr12:56367476-56367490 chr12:56367472-56367489 chr12:56367477-56367488
44	YY1	chr12:56367313-56368081	SK-N-SH_RA	brain:	n/a	n/a
45	TBP	chr12:56367151-56368066	K562	blood:	n/a	n/a
46	GATA1	chr12:56366538-56368116	PBDE	blood:	n/a	n/a
47	GABPA	chr12:56367185-56368025	A549	lung:	n/a	n/a
48	CREB1	chr12:56367093-56368176	GM12878	blood:	n/a	n/a
49	CHD2	chr12:56367108-56368409	Hela-S3	cervix:	n/a	n/a
50	BHLHE40	chr12:56367271-56367924	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56122006..56124318-chr12:56366555..56368429,2	MCF-7	breast:
2	chr12:56137010..56139176-chr12:56366479..56369419,2	MCF-7	breast:
3	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
4	chr12:56366046..56368936-chr12:56496419..56498164,2	MCF-7	breast:
5	chr12:56367136..56367642-chr8:101733920..101734818,2	Hela-S3	cervix:
6	chr12:56348719..56352915-chr12:56364675..56368847,8	MCF-7	breast:
7	chr12:56365739..56372949-chr12:56384756..56392202,12	MCF-7	breast:
8	chr12:56364840..56368363-chr12:56508725..56511034,3	MCF-7	breast:
9	chr12:56333191..56336155-chr12:56365028..56368008,4	K562	blood:
10	chr12:56332717..56336094-chr12:56364167..56367444,3	K562	blood:
11	chr12:56365214..56370075-chr12:56508797..56513405,7	K562	blood:
12	chr12:56323635..56325370-chr12:56366168..56367925,2	K562	blood:
13	chr12:56222536..56225150-chr12:56365763..56368658,3	MCF-7	breast:
14	chr12:56136828..56138672-chr12:56366872..56368947,2	MCF-7	breast:
15	chr11:62608415..62609561-chr12:56366624..56367591,3	Hela-S3	cervix:
16	chr12:56366137..56368983-chr12:56496697..56499860,3	K562	blood:
17	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
18	chr12:56364281..56367939-chr12:56391027..56393496,3	K562	blood:
19	chr12:56364310..56368149-chr12:56508797..56512267,4	K562	blood:
20	chr12:56365099..56368915-chr12:56389537..56395397,5	K562	blood:
21	chr12:56364726..56370308-chr12:56432734..56438629,15	K562	blood:
22	chr12:56367291..56369317-chr12:56511670..56513322,2	MCF-7	breast:
23	chr12:56366211..56368901-chr12:56482165..56483976,2	MCF-7	breast:
24	chr12:56364817..56368355-chr12:56399269..56402650,4	K562	blood:
25	chr12:56366263..56368373-chr12:56383162..56386000,3	K562	blood:
26	chr12:56367187..56367818-chr5:43120947..43121479,2	NB4	blood:
27	chr12:56135373..56137325-chr12:56366402..56369141,2	K562	blood:
28	chr11:73087335..73087860-chr12:56366806..56367615,2	Hela-S3	cervix:
29	chr12:56367265..56369715-chr12:56472830..56474688,3	MCF-7	breast:
30	chr12:56364512..56372057-chr12:56434108..56438254,11	MCF-7	breast:
31	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
32	chr12:56366879..56368778-chr12:56434721..56436659,2	MCF-7	breast:
33	chr12:56319824..56321701-chr12:56366631..56369066,2	K562	blood:
34	chr12:56366345..56369020-chr3:167813307..167815912,2	MCF-7	breast:
35	chr12:56366986..56367559-chr7:17337986..17338824,2	Hela-S3	cervix:
36	chr12:56332625..56335607-chr12:56366338..56368554,4	MCF-7	breast:
37	chr12:56209486..56213209-chr12:56366653..56370251,5	MCF-7	breast:
38	chr12:56210044..56216553-chr12:56364276..56371676,13	MCF-7	breast:
39	chr12:56364761..56370418-chr12:56496365..56499534,4	K562	blood:

Variant related genes	Relation type
RAB5B	TF binding region
PMEL	TF binding region
ENSG00000065357	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000237773	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000106546	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000139531	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1045435	1.00[ASN][1000 genomes]
rs10783777	1.00[ASN][1000 genomes]
rs10783778	1.00[ASN][1000 genomes]
rs10876867	1.00[ASN][1000 genomes]
rs1091527	1.00[ASN][1000 genomes]
rs11550558	1.00[ASN][1000 genomes]
rs11834728	1.00[CHD][hapmap]
rs11835310	1.00[ASN][1000 genomes]
rs11837075	0.87[ASN][1000 genomes]
rs12320265	1.00[CHD][hapmap]
rs1614219	1.00[ASN][1000 genomes]
rs1626158	1.00[ASN][1000 genomes]
rs1689511	1.00[ASN][1000 genomes]
rs1689517	1.00[ASN][1000 genomes]
rs1689518	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17118333	1.00[CHD][hapmap]
rs2271188	1.00[CHD][hapmap]
rs2271195	1.00[ASN][1000 genomes]
rs2277340	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2456972	1.00[ASN][1000 genomes]
rs2640566	1.00[ASN][1000 genomes]
rs2658479	1.00[ASN][1000 genomes]
rs2661728	1.00[ASN][1000 genomes]
rs2661729	1.00[ASN][1000 genomes]
rs2934152	1.00[ASN][1000 genomes]
rs3809130	1.00[CHD][hapmap]
rs7300292	1.00[ASN][1000 genomes]
rs7304690	1.00[ASN][1000 genomes]
rs73338377	1.00[ASN][1000 genomes]
rs73338385	1.00[ASN][1000 genomes]
rs73338396	0.87[ASN][1000 genomes]
rs772922	1.00[ASN][1000 genomes]
rs773115	1.00[ASN][1000 genomes]
rs7970035	1.00[ASN][1000 genomes]
rs9738143	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 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	chr12:56365600-56369000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:56366200-56367800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:56366200-56368000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:56366200-56369000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:56366200-56369000	Active TSS	Right Atrium	heart
6	chr12:56366400-56368600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:56366400-56368600	Active TSS	HSMMtube	muscle
8	chr12:56366400-56369000	Active TSS	Right Ventricle	heart
9	chr12:56366400-56369000	Active TSS	GM12878-XiMat	blood
10	chr12:56366400-56369000	Active TSS	NHLF	lung
11	chr12:56366600-56368600	Active TSS	Brain Hippocampus Middle	brain
12	chr12:56366600-56368600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:56366600-56368600	Active TSS	Lung	lung
14	chr12:56366600-56368600	Active TSS	Stomach Mucosa	stomach
15	chr12:56366600-56368800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:56366600-56368800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:56366600-56368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:56366600-56368800	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:56366600-56369000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:56366600-56369000	Active TSS	Fetal Muscle Trunk	muscle
21	chr12:56366600-56369200	Active TSS	Ovary	ovary
22	chr12:56366600-56369400	Active TSS	Esophagus	oesophagus
23	chr12:56366800-56367400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:56366800-56368200	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr12:56366800-56368200	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:56366800-56368600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:56366800-56368600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:56366800-56368600	Active TSS	Brain Anterior Caudate	brain
29	chr12:56366800-56368600	Active TSS	Colon Smooth Muscle	Colon
30	chr12:56366800-56368600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:56366800-56368600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:56366800-56368600	Active TSS	Fetal Intestine Small	intestine
33	chr12:56366800-56368600	Active TSS	Fetal Muscle Leg	muscle
34	chr12:56366800-56368600	Active TSS	Fetal Stomach	stomach
35	chr12:56366800-56368600	Active TSS	Gastric	stomach
36	chr12:56366800-56368600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr12:56366800-56368800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:56366800-56368800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:56366800-56368800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:56366800-56368800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:56366800-56368800	Active TSS	Fetal Intestine Large	intestine
42	chr12:56366800-56368800	Active TSS	Psoas Muscle	Psoas
43	chr12:56366800-56368800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:56366800-56368800	Active TSS	Small Intestine	intestine
45	chr12:56366800-56369000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:56366800-56369000	Active TSS	Aorta	Aorta
47	chr12:56366800-56369000	Active TSS	Colonic Mucosa	Colon
48	chr12:56366800-56369200	Active TSS	Left Ventricle	heart
49	chr12:56367000-56367800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:56367000-56367800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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