Variant report

Variant	rs7948776
Chromosome Location	chr11:45111746-45111747
allele	C/G
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	RAD21	chr11:45111292-45111824	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr11:45110704-45111790	MCF10A-Er-Src	breast:	n/a	chr11:45111624-45111636 chr11:45111518-45111530 chr11:45111514-45111526
3	CTCF	chr11:45111620-45111770	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr11:45111378-45111748	IMR90	lung:	n/a	chr11:45111561-45111571
5	CTCF	chr11:45111369-45111766	H1-hESC	embryonic stem cell:	n/a	chr11:45111561-45111571
6	CTCF	chr11:45111520-45111770	HVMF	connective:	n/a	chr11:45111561-45111571
7	MAZ	chr11:45110366-45111841	IMR90	lung:	n/a	n/a
8	CTCF	chr11:45111405-45111759	K562	blood:	n/a	chr11:45111561-45111571
9	MAX	chr11:45111321-45111759	NB4	blood:	n/a	chr11:45111548-45111558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45111160..45113728-chr11:45117212..45120988,3	K562	blood:
2	chr11:45111489..45113728-chr11:45118009..45120988,2	K562	blood:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000019485	Chromatin interaction

rs_ID	r²[population]
rs11038293	0.93[ASN][1000 genomes]
rs11604997	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34207887	0.87[ASN][1000 genomes]
rs7924809	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7952646	1.00[JPT][hapmap]

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45100400-45113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:45105600-45112400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:45105600-45113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:45105600-45113400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:45106000-45113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:45107000-45116600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:45107400-45111800	Enhancers	Right Ventricle	heart
8	chr11:45107400-45112400	Enhancers	Fetal Muscle Leg	muscle
9	chr11:45107400-45117400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:45107600-45111800	Enhancers	Esophagus	oesophagus
11	chr11:45107600-45112800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:45107600-45115600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:45107600-45117200	Enhancers	Spleen	Spleen
14	chr11:45107800-45115600	Enhancers	NHLF	lung
15	chr11:45108000-45112400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:45108000-45112800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:45108000-45115000	Enhancers	Adipose Nuclei	Adipose
18	chr11:45108200-45116200	Enhancers	NHDF-Ad	bronchial
19	chr11:45108400-45111800	Enhancers	Colon Smooth Muscle	Colon
20	chr11:45108400-45115800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:45108800-45112000	Weak transcription	Small Intestine	intestine
22	chr11:45108800-45114200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:45108800-45114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:45109000-45112400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:45109000-45112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:45109200-45112200	Enhancers	NHEK	skin
27	chr11:45109200-45112800	Enhancers	Fetal Intestine Large	intestine
28	chr11:45109200-45115200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:45109400-45116000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:45109600-45111800	Enhancers	Right Atrium	heart
31	chr11:45109600-45112800	Enhancers	Left Ventricle	heart
32	chr11:45109600-45113200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:45109800-45111800	Enhancers	Lung	lung
34	chr11:45109800-45113200	Weak transcription	Primary B cells from cord blood	blood
35	chr11:45109800-45114600	Enhancers	Osteobl	bone
36	chr11:45110000-45111800	Enhancers	Psoas Muscle	Psoas
37	chr11:45110000-45112400	Enhancers	Pancreas	Pancrea
38	chr11:45110000-45113600	Weak transcription	Fetal Lung	lung
39	chr11:45110000-45115000	Weak transcription	Fetal Brain Female	brain
40	chr11:45110000-45115400	Weak transcription	Brain Angular Gyrus	brain
41	chr11:45110000-45116200	Weak transcription	Fetal Brain Male	brain
42	chr11:45110000-45116400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:45110200-45112000	Enhancers	Placenta	Placenta
44	chr11:45110200-45112000	Enhancers	HMEC	breast
45	chr11:45110200-45112800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:45110200-45113200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:45110200-45115200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:45110400-45111800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:45110400-45113200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:45110400-45113400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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