Variant report

Variant	rs7296323
Chromosome Location	chr12:63117444-63117445
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	FOXA1	chr12:63117356-63117748	T-47D	breast:	n/a	n/a
2	FOXA1	chr12:63117337-63117768	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:63097942..63100132-chr12:63116970..63118989,2	MCF-7	breast:
2	chr12:63117328..63119702-chr12:63121037..63122571,2	MCF-7	breast:
3	chr12:63000399..63002714-chr12:63116327..63118895,2	MCF-7	breast:
4	chr12:62995262..62999386-chr12:63116271..63120400,5	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction

rs_ID	r²[population]
rs11174619	1.00[TSI][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63078000-63118600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
3	chr12:63097000-63118800	Weak transcription	Stomach Mucosa	stomach
4	chr12:63103400-63118800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:63104400-63118800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:63107200-63125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:63109200-63122200	Weak transcription	Gastric	stomach
8	chr12:63109400-63117600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:63109600-63118000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:63109600-63118800	Weak transcription	Ovary	ovary
11	chr12:63110000-63117600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:63110000-63122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:63110600-63118000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:63111000-63119000	Enhancers	Brain Angular Gyrus	brain
15	chr12:63112000-63118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:63112200-63121200	Enhancers	NHDF-Ad	bronchial
17	chr12:63112400-63121000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:63113400-63118400	Enhancers	Brain Substantia Nigra	brain
19	chr12:63113600-63118600	Enhancers	Brain Hippocampus Middle	brain
20	chr12:63114000-63117600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:63114000-63118200	Weak transcription	Thymus	Thymus
22	chr12:63114000-63118600	Weak transcription	Fetal Intestine Large	intestine
23	chr12:63114000-63118800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:63114000-63129400	Weak transcription	Liver	Liver
25	chr12:63114200-63118600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:63114600-63118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63114600-63119200	Enhancers	Fetal Kidney	kidney
28	chr12:63114600-63120400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:63114800-63117600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:63114800-63118000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:63114800-63118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:63115000-63117600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:63115000-63117800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:63115000-63117800	Weak transcription	HUVEC	blood vessel
35	chr12:63115000-63118000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:63115000-63118800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:63115000-63122200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:63115000-63122200	Weak transcription	Psoas Muscle	Psoas
39	chr12:63115000-63122600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:63115000-63123000	Weak transcription	Fetal Lung	lung
41	chr12:63115000-63124000	Weak transcription	Adipose Nuclei	Adipose
42	chr12:63115000-63124600	Weak transcription	Aorta	Aorta
43	chr12:63115000-63125800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:63115200-63117600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:63115200-63117600	Enhancers	A549	lung
46	chr12:63115200-63118000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:63115200-63118000	Weak transcription	HSMMtube	muscle
48	chr12:63115200-63118200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:63115200-63118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:63115200-63118800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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