Variant report

Variant	rs7560564
Chromosome Location	chr2:10953645-10953646
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	MAX	chr2:10952295-10953761	HepG2	liver:	n/a	chr2:10953260-10953270 chr2:10952900-10952909 chr2:10953570-10953581 chr2:10953451-10953460
2	HCFC1	chr2:10952214-10953805	Hela-S3	cervix:	n/a	n/a
3	EP300	chr2:10949934-10953668	SK-N-SH	brain:	n/a	chr2:10953331-10953340 chr2:10953581-10953591 chr2:10952543-10952559 chr2:10952897-10952913 chr2:10952571-10952587
4	POLR2A	chr2:10951284-10955286	HepG2	liver:	n/a	n/a
5	CHD1	chr2:10951357-10953762	IMR90	lung:	n/a	chr2:10952768-10952778 chr2:10952677-10952687 chr2:10953548-10953558
6	MAX	chr2:10952323-10953672	MCF-7	breast:	n/a	chr2:10953260-10953270 chr2:10952900-10952909 chr2:10953570-10953581 chr2:10953451-10953460
7	MAX	chr2:10951700-10953774	A549	lung:	n/a	chr2:10953260-10953270 chr2:10952900-10952909 chr2:10953570-10953581 chr2:10953451-10953460
8	MAX	chr2:10952270-10953674	A549	lung:	n/a	chr2:10953260-10953270 chr2:10952900-10952909 chr2:10953570-10953581 chr2:10953451-10953460
9	MAX	chr2:10951625-10953806	HepG2	liver:	n/a	chr2:10953260-10953270 chr2:10952900-10952909 chr2:10953570-10953581 chr2:10953451-10953460
10	MXI1	chr2:10950333-10953845	SK-N-SH	brain:	n/a	n/a
11	MXI1	chr2:10950512-10953683	IMR90	lung:	n/a	n/a
12	TCF12	chr2:10952306-10953814	A549	lung:	n/a	chr2:10952627-10952634 chr2:10952794-10952801 chr2:10953101-10953111 chr2:10952767-10952777
13	SIN3AK20	chr2:10952512-10953691	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:10953574-10953673	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10829660..10832488-chr2:10951407..10954824,3	MCF-7	breast:
2	chr2:10951075..10954804-chr2:10970791..10972657,3	MCF-7	breast:
3	chr2:10952771..10956477-chr2:10972417..10975728,4	MCF-7	breast:
4	chr2:10829183..10831676-chr2:10953297..10956112,2	MCF-7	breast:

Variant related genes	Relation type
PDIA6	TF binding region
ENSG00000243819	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000143870	Chromatin interaction

rs_ID	r²[population]
rs11694946	1.00[EUR][1000 genomes]
rs16856628	1.00[EUR][1000 genomes]
rs4668698	1.00[EUR][1000 genomes]
rs59189612	1.00[EUR][1000 genomes]
rs59444730	1.00[EUR][1000 genomes]
rs60735401	1.00[EUR][1000 genomes]
rs60810333	1.00[EUR][1000 genomes]
rs61360105	1.00[EUR][1000 genomes]
rs73169975	1.00[EUR][1000 genomes]
rs7570055	1.00[EUR][1000 genomes]
rs7571129	1.00[EUR][1000 genomes]

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10950600-10953800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:10951600-10953800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:10951800-10953800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:10952000-10953800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:10952000-10953800	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:10952800-10953800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:10953200-10953800	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr2:10953200-10953800	Enhancers	Spleen	Spleen
9	chr2:10953400-10953800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:10953400-10953800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr2:10953400-10953800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr2:10953400-10953800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr2:10953400-10953800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr2:10953600-10953800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:10953600-10953800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:10953600-10953800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10953600-10953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:10953600-10953800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:10953600-10953800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10953600-10953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:10953600-10953800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:10953600-10953800	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:10953600-10953800	Active TSS	Primary B cells from cord blood	blood
24	chr2:10953600-10953800	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:10953600-10953800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:10953600-10953800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:10953600-10953800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:10953600-10953800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:10953600-10953800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:10953600-10953800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:10953600-10953800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:10953600-10953800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:10953600-10953800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:10953600-10953800	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:10953600-10953800	Enhancers	Fetal Thymus	thymus
36	chr2:10953600-10953800	Enhancers	A549	lung
37	chr2:10953600-10953800	Enhancers	Dnd41	blood
38	chr2:10953600-10953800	Enhancers	GM12878-XiMat	blood
39	chr2:10953600-10954000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:10953600-10954200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:10953600-10954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:10953600-10954400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:10953600-10954400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:10953600-10954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:10953600-10954400	Enhancers	Adipose Nuclei	Adipose
46	chr2:10953600-10954400	Enhancers	HUVEC	blood vessel
47	chr2:10953600-10954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:10953600-10954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:10953600-10954600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:10953600-10954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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