Variant report

Variant	rs1151844
Chromosome Location	chr12:120883238-120883239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:120883093-120884926	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:120880338-120884699	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr12:120882586-120884552	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:120883199-120883647	PFSK-1	brain:	n/a	n/a
5	HCFC1	chr12:120883208-120884920	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:120881588-120884497	K562	blood:	n/a	n/a
7	POLR2A	chr12:120882823-120883255	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120761038..120763452-chr12:120881221..120883807,2	K562	blood:
2	chr12:120871367..120873867-chr12:120881238..120883410,2	K562	blood:
3	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
4	chr12:120794486..120796567-chr12:120881836..120883706,2	MCF-7	breast:
5	chr12:120754074..120755627-chr12:120881986..120884098,2	K562	blood:
6	chr12:120763291..120765137-chr12:120883097..120885850,2	MCF-7	breast:
7	chr12:120882311..120884900-chr12:120901035..120902974,2	K562	blood:
8	chr12:120728284..120732232-chr12:120880260..120886911,13	MCF-7	breast:
9	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
10	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
11	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
12	chr12:120882311..120884725-chr12:120900864..120902535,2	K562	blood:
13	chr12:120883044..120885202-chr12:120966979..120969581,2	K562	blood:
14	chr12:120881121..120885738-chr12:120933710..120938677,7	MCF-7	breast:
15	chr12:120882261..120885066-chr12:120932076..120935293,3	K562	blood:
16	chr12:120728080..120732034-chr12:120882797..120888425,5	K562	blood:
17	chr12:120880785..120883723-chr12:120932657..120934399,2	K562	blood:
18	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:
19	chr12:120883164..120885526-chr12:120971268..120972852,2	K562	blood:
20	chr12:120836022..120837604-chr12:120880612..120883429,2	MCF-7	breast:
21	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
22	chr12:120881273..120884035-chr12:120898335..120900526,2	K562	blood:
23	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
24	chr12:120882880..120885596-chr12:121086494..121088113,2	K562	blood:

No data

Variant related genes	Relation type
GATC	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000219355	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1151840	1.00[AMR][1000 genomes]
rs1167357	1.00[AMR][1000 genomes]
rs1179448	1.00[AMR][1000 genomes]
rs1179452	1.00[AMR][1000 genomes]
rs1179453	1.00[AMR][1000 genomes]
rs13343210	1.00[AMR][1000 genomes]
rs1794737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794739	1.00[AMR][1000 genomes]
rs2743850	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs499344	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548201	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs583686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120876800-120883400	Weak transcription	Esophagus	oesophagus
3	chr12:120877800-120883400	Weak transcription	Stomach Mucosa	stomach
4	chr12:120878000-120883400	Weak transcription	Small Intestine	intestine
5	chr12:120881200-120883400	Weak transcription	Spleen	Spleen
6	chr12:120881400-120883400	Weak transcription	Aorta	Aorta
7	chr12:120881600-120883600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:120882000-120883400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:120882000-120883600	Weak transcription	Lung	lung
10	chr12:120882000-120883600	Weak transcription	Ovary	ovary
11	chr12:120882200-120883400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:120882200-120883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:120882200-120883400	Weak transcription	Gastric	stomach
14	chr12:120882400-120883400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:120882600-120883400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:120882600-120883400	Weak transcription	Placenta	Placenta
17	chr12:120882600-120883400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:120882600-120883600	Flanking Active TSS	HMEC	breast
19	chr12:120882800-120883400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120882800-120883400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:120882800-120883400	Enhancers	Liver	Liver
22	chr12:120882800-120883400	Enhancers	Brain Angular Gyrus	brain
23	chr12:120882800-120883400	Enhancers	Colonic Mucosa	Colon
24	chr12:120882800-120883400	Enhancers	Fetal Heart	heart
25	chr12:120882800-120883400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:120882800-120883400	Genic enhancers	Fetal Thymus	thymus
27	chr12:120882800-120883400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:120882800-120883400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:120882800-120883600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:120882800-120883600	Flanking Active TSS	Hela-S3	cervix
31	chr12:120882800-120883800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr12:120882800-120885000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:120882800-120885400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:120882800-120885400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:120882800-120885600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:120883000-120883400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:120883000-120883400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:120883000-120883400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:120883000-120883400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:120883000-120883400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:120883000-120883400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:120883000-120883400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:120883000-120883400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:120883000-120883400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:120883000-120883400	Enhancers	Fetal Stomach	stomach
46	chr12:120883000-120883400	Enhancers	Left Ventricle	heart
47	chr12:120883000-120883400	Enhancers	Pancreas	Pancrea
48	chr12:120883000-120883400	Enhancers	Right Ventricle	heart
49	chr12:120883000-120883600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:120883000-120883600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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