Variant report

Variant	rs10861147
Chromosome Location	chr12:104330515-104330516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104329405-104331548	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:104329992-104331007	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:104330497-104330761	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:104329976-104330970	K562	blood:	n/a	n/a
5	POLR2A	chr12:104330343-104331068	PFSK-1	brain:	n/a	n/a
6	PML	chr12:104328577-104332758	K562	blood:	n/a	chr12:104331442-104331450
7	POLR2A	chr12:104330496-104330663	ProgFib	skin:	n/a	n/a
8	MAX	chr12:104330428-104330737	K562	blood:	n/a	n/a
9	POLR2A	chr12:104330461-104330577	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:104330430-104330881	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:104330442-104330559	MCF-7	breast:	n/a	n/a
12	ZMIZ1	chr12:104330462-104330658	K562	blood:	n/a	n/a
13	CEBPD	chr12:104330374-104330962	K562	blood:	n/a	n/a
14	HEY1	chr12:104329931-104330931	K562	blood:	n/a	n/a
15	POLR2A	chr12:104328780-104331091	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:104330425-104330840	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:104329921-104330838	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:104330044-104330783	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:104330407-104330807	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:104328593-104332706	K562	blood:	n/a	n/a
21	BCLAF1	chr12:104329940-104331216	K562	blood:	n/a	n/a
22	POLR2A	chr12:104330484-104331053	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:104328756-104331372	GM12891	blood:	n/a	n/a
24	TEAD4	chr12:104328661-104331517	K562	blood:	n/a	n/a
25	POLR2A	chr12:104328937-104331295	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:104329337-104330977	GM12892	blood:	n/a	n/a
27	POLR2A	chr12:104330445-104330719	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:104330040-104331026	K562	blood:	n/a	n/a
29	POLR2A	chr12:104328704-104331057	GM12878	blood:	n/a	n/a
30	CCNT2	chr12:104330427-104330942	K562	blood:	n/a	n/a
31	ZNF384	chr12:104330463-104330663	K562	blood:	n/a	n/a
32	POLR2A	chr12:104329986-104330820	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:104328660-104333717	K562	blood:	n/a	n/a
34	POLR2A	chr12:104330082-104330929	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:104324071-104347835	K562	blood:	n/a	n/a
36	POLR2A	chr12:104329990-104330874	GM12892	blood:	n/a	n/a
37	CHD2	chr12:104330499-104330943	K562	blood:	n/a	n/a
38	POLR2A	chr12:104328518-104331027	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:104329942-104331074	K562	blood:	n/a	n/a
40	POLR2A	chr12:104328594-104331086	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104233850..104236923-chr12:104328955..104330826,3	K562	blood:

No data

Variant related genes	Relation type
HSP90B1	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10507172	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10507173	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10861124	0.89[CHD][hapmap];0.87[JPT][hapmap]
rs10861148	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10861153	0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs11111852	0.81[EUR][1000 genomes]
rs11111858	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11111862	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11111863	0.86[ASN][1000 genomes]
rs11111865	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1165666	0.88[JPT][hapmap]
rs1165677	0.88[JPT][hapmap]
rs1165678	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs1165682	0.88[JPT][hapmap]
rs1183212	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs12368121	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs1437502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17035144	0.88[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap]
rs1866070	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs2164747	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2293620	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2293624	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2722188	0.82[CHB][hapmap]
rs3751210	0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap]
rs3817602	0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs3829301	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4135052	0.89[ASN][1000 genomes]
rs4135054	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[ASN][1000 genomes]
rs4135068	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4135079	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4135102	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4135103	0.83[ASN][1000 genomes]
rs4135109	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4135113	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs4135115	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs4135126	0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs57179875	0.94[ASN][1000 genomes]
rs60696717	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61069788	0.80[ASN][1000 genomes]
rs7302074	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs7310423	0.89[ASN][1000 genomes]
rs73388292	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:104325000-104331000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
2	chr12:104325600-104331000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:104325600-104348600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:104325600-104349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:104325800-104333400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:104325800-104335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104325800-104348600	Strong transcription	Placenta	Placenta
8	chr12:104326000-104331000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:104326000-104348800	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:104326200-104331200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr12:104326400-104330800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:104326400-104331400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:104326400-104331400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:104326600-104348800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:104326800-104344800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:104326800-104348800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:104326800-104348800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:104327000-104331200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:104327000-104341600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:104327000-104348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:104327000-104348600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:104327200-104330800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:104327200-104330800	Genic enhancers	Liver	Liver
24	chr12:104327200-104331000	Genic enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:104327200-104331400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:104327200-104332200	Genic enhancers	HepG2	liver
27	chr12:104327200-104341800	Strong transcription	Fetal Kidney	kidney
28	chr12:104327200-104345000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:104327200-104345400	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:104327200-104348000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:104327200-104348200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:104327200-104348400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:104327200-104348600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:104327200-104348600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:104327200-104348600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:104327200-104348600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:104327200-104348600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:104327200-104348800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:104327200-104348800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:104327200-104349000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:104327200-104349200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:104327400-104330800	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr12:104327400-104330800	Genic enhancers	Dnd41	blood
44	chr12:104327400-104340000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:104327400-104348000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:104327400-104348000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:104327400-104348200	Strong transcription	HSMM	muscle
48	chr12:104327600-104330800	Strong transcription	Gastric	stomach
49	chr12:104327600-104330800	Strong transcription	Lung	lung
50	chr12:104327600-104331000	Strong transcription	Aorta	Aorta

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