Variant report

Variant	rs10735393
Chromosome Location	chr12:104680661-104680662
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:490)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr12:104680565-104681282	A549	lung:	n/a	n/a
2	EGR1	chr12:104680384-104681038	K562	blood:	n/a	n/a
3	E2F6	chr12:104680529-104681560	K562	blood:	n/a	chr12:104680728-104680743 chr12:104680958-104680967
4	TCF12	chr12:104680038-104681238	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr12:104680558-104681265	SK-N-SH	brain:	n/a	n/a
6	ATF3	chr12:104679614-104681829	A549	lung:	n/a	n/a
7	POU2F2	chr12:104680435-104681055	GM12878	blood:	n/a	chr12:104680666-104680676 chr12:104680667-104680675 chr12:104680666-104680677 chr12:104680666-104680677
8	TCF7L2	chr12:104680113-104681643	PANC-1	pancreas:	n/a	n/a
9	ZBTB33	chr12:104679652-104681480	A549	lung:	n/a	n/a
10	CEBPB	chr12:104680565-104681116	HepG2	liver:	n/a	n/a
11	TBL1XR1	chr12:104680086-104681234	K562	blood:	n/a	n/a
12	MAFK	chr12:104679980-104681196	K562	blood:	n/a	n/a
13	POLR2A	chr12:104679566-104684466	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:104680586-104681308	H1-neurons	neurons:	n/a	n/a
15	USF1	chr12:104680248-104680679	H1-hESC	embryonic stem cell:	n/a	chr12:104680464-104680475
16	REST	chr12:104680560-104681176	PFSK-1	brain:	n/a	chr12:104680747-104680760
17	MAX	chr12:104680338-104681308	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF2	chr12:104680292-104681242	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:104680576-104681270	GM12878	blood:	n/a	n/a
20	USF1	chr12:104680230-104680680	SK-N-SH_RA	brain:	n/a	chr12:104680464-104680475
21	CEBPB	chr12:104680229-104681228	A549	lung:	n/a	n/a
22	HEY1	chr12:104680312-104681330	HepG2	liver:	n/a	n/a
23	MAX	chr12:104680223-104681280	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr12:104680388-104681238	K562	blood:	n/a	n/a
25	POLR2A	chr12:104680326-104681660	K562	blood:	n/a	n/a
26	FOXA2	chr12:104679551-104681046	A549	lung:	n/a	n/a
27	MYC	chr12:104680648-104681119	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:104680500-104681704	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr12:104679817-104683502	Hela-S3	cervix:	n/a	n/a
30	FOS	chr12:104679877-104681223	MCF10A-Er-Src	breast:	n/a	chr12:104680226-104680238 chr12:104680274-104680283
31	POLR2A	chr12:104680559-104681686	HL-60	blood:	n/a	n/a
32	SP1	chr12:104680241-104680958	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFYB	chr12:104680458-104680868	K562	blood:	n/a	n/a
34	POLR2A	chr12:104680352-104681704	K562	blood:	n/a	n/a
35	POLR2A	chr12:104679670-104683975	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr12:104680328-104681519	H1-hESC	embryonic stem cell:	n/a	n/a
37	NFE2	chr12:104680524-104680894	K562	blood:	n/a	chr12:104680702-104680717
38	SIN3AK20	chr12:104680510-104681423	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr12:104679758-104681662	Hela-S3	cervix:	n/a	chr12:104680677-104680692
40	SP1	chr12:104680387-104681198	GM12878	blood:	n/a	n/a
41	SP1	chr12:104679158-104684055	A549	lung:	n/a	chr12:104682628-104682639 chr12:104683086-104683100
42	ZNF143	chr12:104680391-104681117	GM12878	blood:	n/a	n/a
43	MXI1	chr12:104680278-104681605	GM12878	blood:	n/a	chr12:104680677-104680692
44	CEBPB	chr12:104680561-104680931	H1-hESC	embryonic stem cell:	n/a	n/a
45	NR2F2	chr12:104680010-104681242	K562	blood:	n/a	n/a
46	POLR2A	chr12:104679672-104683881	HepG2	liver:	n/a	n/a
47	PBX3	chr12:104679661-104681338	A549	lung:	n/a	chr12:104681269-104681278
48	RFX5	chr12:104680287-104681224	GM12878	blood:	n/a	chr12:104680677-104680686 chr12:104680675-104680692
49	STAT5A	chr12:104680564-104681438	GM12878	blood:	n/a	chr12:104681325-104681333
50	EP300	chr12:104680265-104681217	GM12878	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:
2	chr12:104680357..104681211-chr5:67511312..67511865,2	NB4	blood:
3	chr12:104680660..104681263-chr17:74722928..74723465,2	NB4	blood:
4	chr12:104680398..104681014-chr9:95055895..95056419,2	NB4	blood:
5	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
6	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:
7	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
8	chr12:104678772..104682731-chr12:105498551..105503490,6	K562	blood:
9	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
10	chr1:21112911..21113748-chr12:104680547..104681492,2	Hela-S3	cervix:
11	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
12	chr12:104680518..104681165-chr19:12903376..12904127,2	Hela-S3	cervix:
13	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
14	chr12:104643850..104647465-chr12:104679926..104684172,5	K562	blood:
15	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
16	chr11:129765144..129765795-chr12:104680658..104681317,2	NB4	blood:
17	chr12:104673431..104677021-chr12:104679201..104682284,5	MCF-7	breast:
18	chr12:104643349..104645898-chr12:104680595..104683102,2	K562	blood:
19	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:
20	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
21	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000145675	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000181038	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000255150	Chromatin interaction
ENSG00000170322	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000257732	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000127483	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10735392	1.00[CEU][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes]
rs10735394	0.99[ASN][1000 genomes]
rs10735395	0.91[EUR][1000 genomes]
rs10745995	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs10745996	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs10745999	0.90[ASN][1000 genomes]
rs10778311	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10778316	0.89[JPT][hapmap]
rs10778318	0.91[JPT][hapmap]
rs10778323	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs10861202	0.83[ASN][1000 genomes]
rs10861204	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs11111943	0.81[EUR][1000 genomes]
rs11111960	0.91[JPT][hapmap]
rs11111963	0.91[JPT][hapmap]
rs12424869	0.89[JPT][hapmap]
rs12426783	0.81[EUR][1000 genomes]
rs17035504	0.86[CEU][hapmap]
rs17202862	0.93[CEU][hapmap]
rs4129598	0.86[CEU][hapmap]
rs4246264	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs4246269	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs4246270	0.91[EUR][1000 genomes]
rs4246271	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs4388968	1.00[CEU][hapmap]
rs4447242	0.91[EUR][1000 genomes]
rs4477504	0.94[ASN][1000 genomes]
rs4502051	0.91[EUR][1000 genomes]
rs4545635	0.93[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4614534	0.86[CEU][hapmap]
rs4630362	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4964227	0.93[CEU][hapmap]
rs4964228	0.93[CEU][hapmap]
rs4964257	0.81[EUR][1000 genomes]
rs4964260	0.93[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4964288	1.00[CEU][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs4964627	0.86[CEU][hapmap]
rs4964728	0.81[GIH][hapmap]
rs4964735	0.91[JPT][hapmap]
rs4964741	0.90[EUR][1000 genomes]
rs4964752	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs4964761	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs4964779	1.00[CEU][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs4964781	0.92[ASN][1000 genomes]
rs4964784	0.91[EUR][1000 genomes]
rs6539137	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6539138	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.89[ASN][1000 genomes]
rs7132418	0.86[CEU][hapmap]
rs7138035	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7138317	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7138523	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7139336	0.95[EUR][1000 genomes]
rs7294997	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs7298613	0.91[EUR][1000 genomes]
rs7299866	0.86[CEU][hapmap]
rs7301631	1.00[JPT][hapmap]
rs7316394	0.87[ASN][1000 genomes]
rs73181916	0.85[EUR][1000 genomes]
rs73181919	0.82[EUR][1000 genomes]
rs73181926	0.82[EUR][1000 genomes]
rs7342395	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7957725	0.86[CEU][hapmap]
rs7962423	1.00[CEU][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes]
rs7969351	0.95[EUR][1000 genomes]
rs7969604	0.86[EUR][1000 genomes]
rs9738614	0.91[EUR][1000 genomes]
rs9739826	0.91[EUR][1000 genomes]
rs9739833	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104680000-104680800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104680000-104680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:104680000-104683200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104680000-104683400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:104680000-104683600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104680000-104683800	Active TSS	Aorta	Aorta
7	chr12:104680200-104680800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:104680200-104680800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:104680200-104682000	Active TSS	A549	lung
10	chr12:104680200-104682600	Active TSS	Brain Germinal Matrix	brain
11	chr12:104680200-104683200	Active TSS	Brain Substantia Nigra	brain
12	chr12:104680400-104680800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:104680400-104680800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:104680400-104680800	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr12:104680400-104681200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:104680400-104681600	Active TSS	Fetal Muscle Trunk	muscle
17	chr12:104680400-104681600	Active TSS	Spleen	Spleen
18	chr12:104680400-104682000	Active TSS	Thymus	Thymus
19	chr12:104680400-104682200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:104680400-104683000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104680400-104683000	Active TSS	Brain Angular Gyrus	brain
22	chr12:104680400-104683000	Active TSS	Fetal Brain Male	brain
23	chr12:104680400-104683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:104680400-104683200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:104680400-104683200	Active TSS	Colon Smooth Muscle	Colon
26	chr12:104680400-104683200	Active TSS	Fetal Brain Female	brain
27	chr12:104680400-104683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:104680400-104683400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:104680400-104683600	Active TSS	Brain Anterior Caudate	brain
30	chr12:104680400-104683600	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:104680400-104683600	Active TSS	Brain Hippocampus Middle	brain
32	chr12:104680400-104683600	Active TSS	Fetal Kidney	kidney
33	chr12:104680400-104683600	Active TSS	Left Ventricle	heart
34	chr12:104680400-104683600	Active TSS	Ovary	ovary
35	chr12:104680400-104683600	Active TSS	Psoas Muscle	Psoas
36	chr12:104680400-104683600	Active TSS	Right Ventricle	heart
37	chr12:104680400-104683800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:104680400-104684000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:104680400-104684000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:104680400-104684000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:104680400-104684200	Active TSS	Right Atrium	heart
42	chr12:104680600-104680800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:104680600-104680800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr12:104680600-104680800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:104680600-104680800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:104680600-104680800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:104680600-104680800	Flanking Active TSS	Placenta	Placenta
48	chr12:104680600-104680800	Active TSS	HepG2	liver
49	chr12:104680600-104680800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:104680600-104681000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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