Variant report

Variant	rs1183212
Chromosome Location	chr12:104325871-104325872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:104322407-104327510	K562	blood:	n/a	n/a
2	MAFF	chr12:104325818-104325988	K562	blood:	n/a	n/a
3	POLR2A	chr12:104323006-104326144	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:104323989-104328526	K562	blood:	n/a	n/a
5	POLR2A	chr12:104322439-104326717	MCF10A-Er-Src	breast:	n/a	n/a
6	PML	chr12:104323762-104328552	K562	blood:	n/a	n/a
7	POLR2A	chr12:104321755-104325879	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:104325613-104326105	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:104320257-104326275	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr12:104325255-104325901	K562	blood:	n/a	n/a
11	POLR2A	chr12:104321980-104325932	GM19099	blood:	n/a	n/a
12	POLR2A	chr12:104322047-104327304	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:104322411-104328493	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:104321935-104326151	GM12891	blood:	n/a	n/a
15	E2F4	chr12:104325501-104325977	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr12:104325676-104326180	K562	blood:	n/a	n/a
17	POLR2A	chr12:104323743-104328568	K562	blood:	n/a	n/a
18	POLR2A	chr12:104321950-104327416	GM12878	blood:	n/a	n/a
19	CHD1	chr12:104325652-104325988	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:104324071-104347835	K562	blood:	n/a	n/a
21	BCLAF1	chr12:104323989-104326725	K562	blood:	n/a	chr12:104324626-104324634 chr12:104324880-104324889
22	POLR2A	chr12:104325863-104325900	K562	blood:	n/a	n/a
23	POLR2A	chr12:104322522-104327427	MCF10A-Er-Src	breast:	n/a	n/a
24	MXI1	chr12:104322029-104326653	IMR90	lung:	n/a	chr12:104323780-104323795 chr12:104323778-104323793

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104325856-104325906	HAEpiC	amniotic membrane:	n/a
2	chr12:104325856-104325906	HEK293	kidney:	embryo
3	chr12:104325856-104325906	T-47D	breast:	n/a
4	chr12:104325856-104325906	LNCaP	prostate:	n/a
5	chr12:104325856-104325906	GM12892	blood:	n/a
6	chr12:104325856-104325906	GM12891	blood:	n/a
7	chr12:104325856-104325906	NHDF-neo	bronchial:	n/a
8	chr12:104325856-104325906	PrEC	prostate:	n/a
9	chr12:104325856-104325906	AG10803	skin:	n/a
10	chr12:104325856-104325906	HRCEpiC	kidney:	n/a
11	chr12:104325856-104325906	GM19239	blood:	n/a
12	chr12:104325856-104325906	HRPEpiC	eye:	n/a
13	chr12:104325856-104325906	SK-N-SH_RA	brain:	n/a
14	chr12:104325856-104325906	AG04450	lung:	fetal
15	chr12:104325856-104325906	HEEpiC	esophagus:	n/a
16	chr12:104325856-104325906	CMK	blood:	n/a
17	chr12:104325856-104325906	H1-hESC	embryonic stem cell:	embryo
18	chr12:104325856-104325906	HUVEC	blood vessel:	n/a
19	chr12:104325856-104325906	RPTEC	kidney:	n/a
20	chr12:104325856-104325906	SKMC	muscle:	n/a
21	chr12:104325856-104325906	A549	lung:	n/a
22	chr12:104325856-104325906	SAEC	small airway:	n/a
23	chr12:104325856-104325906	NHBE	bronchial:	n/a
24	chr12:104325856-104325906	HIPEpiC	eye:	n/a
25	chr12:104325856-104325906	K562	blood:	n/a
26	chr12:104325856-104325906	AG09319	gingival:	n/a
27	chr12:104325856-104325906	HMEC	breast:	n/a
28	chr12:104325856-104325906	HCM	heart:	n/a
29	chr12:104325856-104325906	HCPEpiC	choroid plexus:	n/a
30	chr12:104325856-104325906	Hela-S3	cervix:	n/a
31	chr12:104325856-104325906	PANC-1	pancreas:	n/a
32	chr12:104325856-104325906	HL-60	blood:	n/a
33	chr12:104325856-104325906	U87	brain:	n/a
34	chr12:104325856-104325906	NH-A	brain:	n/a
35	chr12:104325856-104325906	IMR90	lung:	fetal
36	chr12:104325856-104325906	BE2_C	brain:	n/a
37	chr12:104325856-104325906	AG09309	skin:	n/a
38	chr12:104325856-104325906	NT2-D1	testis:	n/a
39	chr12:104325856-104325906	SK-N-SH	brain:	n/a
40	chr12:104325856-104325906	MCF10A-Er-Src	breast:	n/a
41	chr12:104325856-104325906	ECC-1	luminal epithelium:	n/a
42	chr12:104325856-104325906	GM06990	blood:	n/a
43	chr12:104325856-104325906	HNPCEpiC	eye:	n/a
44	chr12:104325856-104325906	PFSK-1	brain:	n/a
45	chr12:104325856-104325906	ovcar-3	ovarian:	n/a
46	chr12:104325856-104325906	AoSMC	blood vessel:	n/a
47	chr12:104325856-104325906	ProgFib	skin:	n/a
48	chr12:104325856-104325906	HepG2	liver:	n/a
49	chr12:104325856-104325906	AG04449	skin:	fetal
50	chr12:104325856-104325906	GM12878	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
2	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
3	chr12:104319631..104321504-chr12:104324248..104326474,2	MCF-7	breast:
4	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
5	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
6	chr1:46152208..46153875-chr12:104323647..104326577,2	K562	blood:
7	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
8	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000214198	CpG island
ENSG00000111696	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10507172	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs10507173	0.92[CHD][hapmap];0.88[JPT][hapmap]
rs10861124	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs10861147	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs10861148	0.87[JPT][hapmap]
rs10861153	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs11111817	0.88[JPT][hapmap]
rs11111858	1.00[JPT][hapmap]
rs11111862	0.88[JPT][hapmap]
rs11111865	0.81[JPT][hapmap]
rs1165666	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165672	0.81[YRI][hapmap]
rs1165673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165676	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165677	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165678	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165684	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12368121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs12368164	0.81[JPT][hapmap]
rs12825687	0.81[YRI][hapmap]
rs1437502	0.80[ASN][1000 genomes]
rs1866070	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866073	0.95[ASN][1000 genomes]
rs1920413	0.80[EUR][1000 genomes]
rs2164747	0.88[JPT][hapmap]
rs2243680	0.81[YRI][hapmap]
rs2251979	0.88[JPT][hapmap]
rs2252000	0.88[JPT][hapmap]
rs2293620	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs2293624	0.89[CHD][hapmap];0.88[JPT][hapmap]
rs2438116	0.92[JPT][hapmap]
rs2583244	0.81[YRI][hapmap]
rs2722188	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751210	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs3817602	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs3829301	0.88[JPT][hapmap]
rs4135054	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs4135068	0.83[JPT][hapmap]
rs4135079	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs4135102	0.81[JPT][hapmap]
rs4135109	0.81[JPT][hapmap]
rs4135113	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs4135115	0.81[JPT][hapmap]
rs4135126	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs6539104	0.88[JPT][hapmap]
rs7302074	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104322200-104326200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:104322200-104326200	Active TSS	GM12878-XiMat	blood
3	chr12:104322400-104326000	Active TSS	Colonic Mucosa	Colon
4	chr12:104322400-104326000	Active TSS	Fetal Intestine Small	intestine
5	chr12:104322400-104327000	Active TSS	Right Atrium	heart
6	chr12:104322600-104326400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:104322600-104327000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:104322600-104327200	Active TSS	Aorta	Aorta
9	chr12:104322800-104326000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:104322800-104326000	Active TSS	Fetal Intestine Large	intestine
11	chr12:104322800-104326000	Active TSS	NHDF-Ad	bronchial
12	chr12:104322800-104326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:104322800-104326200	Active TSS	Fetal Stomach	stomach
14	chr12:104322800-104326200	Active TSS	Ovary	ovary
15	chr12:104322800-104326600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:104322800-104326800	Active TSS	Right Ventricle	heart
17	chr12:104323000-104326000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:104323000-104326000	Active TSS	Fetal Muscle Leg	muscle
19	chr12:104323000-104326200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:104323000-104326200	Active TSS	Psoas Muscle	Psoas
21	chr12:104323200-104326400	Active TSS	HSMMtube	muscle
22	chr12:104324600-104326000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:104324600-104326200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:104324600-104326200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:104324600-104326200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:104324600-104327200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:104324800-104326000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr12:104324800-104326200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:104324800-104327400	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr12:104325000-104326000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:104325000-104326000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:104325000-104326200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:104325000-104326600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr12:104325000-104326600	Transcr. at gene 5' and 3'	Fetal Lung	lung
35	chr12:104325000-104326800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
36	chr12:104325000-104327400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:104325000-104327400	Transcr. at gene 5' and 3'	A549	lung
38	chr12:104325000-104327400	Transcr. at gene 5' and 3'	K562	blood
39	chr12:104325000-104329200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:104325000-104331000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
41	chr12:104325200-104326000	Flanking Active TSS	Thymus	Thymus
42	chr12:104325200-104326400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
43	chr12:104325200-104326400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:104325200-104326600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:104325200-104326600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr12:104325200-104326600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr12:104325200-104326800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
48	chr12:104325200-104326800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr12:104325200-104327000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
50	chr12:104325200-104327000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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