Variant report

Variant	rs33016
Chromosome Location	chr12:10871667-10871668
allele	C/T
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	CHD1	chr12:10868107-10877330	IMR90	lung:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
2	POLR2A	chr12:10869253-10877276	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:10869210-10877464	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10759145..10761455-chr12:10871214..10872721,2	K562	blood:
2	chr12:10867078..10869810-chr12:10870814..10872869,3	K562	blood:
3	chr12:10870598..10876467-chr12:10900594..10904029,6	MCF-7	breast:
4	chr12:10863211..10865796-chr12:10871500..10873321,2	MCF-7	breast:

Variant related genes	Relation type
YBX3	TF binding region
ENSG00000256888	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000111196	Chromatin interaction

rs_ID	r²[population]
rs1091308	0.91[EUR][1000 genomes]
rs11053946	1.00[EUR][1000 genomes]
rs11053947	1.00[EUR][1000 genomes]
rs11053962	1.00[CHB][hapmap]
rs11053963	1.00[EUR][1000 genomes]
rs11053965	1.00[EUR][1000 genomes]
rs11053966	1.00[EUR][1000 genomes]
rs11053974	1.00[EUR][1000 genomes]
rs11053975	1.00[EUR][1000 genomes]
rs12227186	1.00[EUR][1000 genomes]
rs12227197	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12228438	1.00[EUR][1000 genomes]
rs12228453	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12231169	1.00[EUR][1000 genomes]
rs12231171	1.00[EUR][1000 genomes]
rs2588355	0.91[EUR][1000 genomes]
rs7139026	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10849600-10873600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:10850000-10873800	Weak transcription	Fetal Brain Male	brain
3	chr12:10852400-10873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:10854800-10873600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:10862800-10873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:10862800-10874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
8	chr12:10863400-10873600	Weak transcription	Colonic Mucosa	Colon
9	chr12:10863400-10873600	Weak transcription	Lung	lung
10	chr12:10863400-10874200	Weak transcription	Gastric	stomach
11	chr12:10866000-10874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:10867000-10873600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:10867800-10871800	Genic enhancers	Dnd41	blood
14	chr12:10868200-10871800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:10868200-10872200	Weak transcription	Fetal Intestine Small	intestine
16	chr12:10868400-10872400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:10868600-10874400	Flanking Active TSS	HUVEC	blood vessel
18	chr12:10868800-10871800	Flanking Active TSS	HSMMtube	muscle
19	chr12:10868800-10873600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:10868800-10873800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:10869000-10871800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:10869000-10871800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:10869000-10871800	Flanking Active TSS	NHLF	lung
24	chr12:10869000-10872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:10869000-10873000	Weak transcription	Thymus	Thymus
26	chr12:10869000-10873400	Weak transcription	Primary T cells from cord blood	blood
27	chr12:10869000-10873600	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:10869000-10874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:10869200-10872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:10869200-10873000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:10869400-10872400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:10869400-10872400	Weak transcription	K562	blood
33	chr12:10869400-10873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:10869400-10873600	Enhancers	Stomach Mucosa	stomach
35	chr12:10869400-10873800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:10869600-10872800	Flanking Active TSS	NHEK	skin
37	chr12:10869600-10874000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:10870000-10872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:10870000-10873000	Weak transcription	Liver	Liver
40	chr12:10870000-10873200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:10870200-10873800	Enhancers	Fetal Heart	heart
42	chr12:10870400-10871800	Enhancers	Brain Anterior Caudate	brain
43	chr12:10870400-10872200	Enhancers	Adipose Nuclei	Adipose
44	chr12:10870400-10872200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:10870400-10872400	Weak transcription	Primary B cells from cord blood	blood
46	chr12:10870400-10872400	Weak transcription	Brain Substantia Nigra	brain
47	chr12:10870400-10873000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:10870400-10873000	Weak transcription	Fetal Intestine Large	intestine
49	chr12:10870400-10873000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:10870400-10873400	Enhancers	Colon Smooth Muscle	Colon

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