Variant report

Variant	rs2695143
Chromosome Location	chr12:121788291-121788292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:121788013-121788351	K562	blood:	n/a	n/a
2	POLR2A	chr12:121788265-121788462	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
2	chr12:121781138..121784693-chr12:121787374..121790702,7	MCF-7	breast:
3	chr12:121787060..121789469-chr12:121802876..121804404,2	MCF-7	breast:
4	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
5	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:
6	chr12:121785461..121788491-chr12:121789239..121792486,3	K562	blood:
7	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
8	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
9	chr12:121787879..121789502-chr12:121829708..121832701,3	K562	blood:

No data

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000258435	Chromatin interaction
ENSG00000170633	Chromatin interaction

rs_ID	r²[population]
rs1169962	0.81[ASN][1000 genomes]
rs1647253	0.81[ASN][1000 genomes]
rs1799526	0.82[ASN][1000 genomes]
rs2668260	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2695148	0.81[ASN][1000 genomes]
rs2950417	0.80[ASN][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121769000-121788800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121772600-121789400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121775600-121789000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121776800-121788600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121781600-121788800	Weak transcription	Right Atrium	heart
6	chr12:121782200-121789000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:121783200-121788600	Weak transcription	Fetal Heart	heart
8	chr12:121783600-121788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121783600-121789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:121783800-121788400	Weak transcription	Small Intestine	intestine
11	chr12:121784000-121788600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:121784000-121788800	Weak transcription	Psoas Muscle	Psoas
13	chr12:121784000-121788800	Weak transcription	HSMMtube	muscle
14	chr12:121784000-121789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:121784000-121789000	Weak transcription	Gastric	stomach
16	chr12:121784000-121789400	Weak transcription	Aorta	Aorta
17	chr12:121784200-121788400	Weak transcription	Lung	lung
18	chr12:121784200-121788600	Weak transcription	NHDF-Ad	bronchial
19	chr12:121784200-121789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121784200-121789000	Weak transcription	Esophagus	oesophagus
21	chr12:121784200-121789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:121784400-121788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:121784400-121788800	Weak transcription	Left Ventricle	heart
24	chr12:121784400-121789000	Weak transcription	Brain Germinal Matrix	brain
25	chr12:121784400-121789000	Weak transcription	Colonic Mucosa	Colon
26	chr12:121784400-121789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121784600-121788600	Weak transcription	Fetal Kidney	kidney
28	chr12:121784600-121789000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:121784800-121788400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:121784800-121788400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:121784800-121788400	Weak transcription	A549	lung
32	chr12:121784800-121788600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:121784800-121788600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:121784800-121788600	Weak transcription	Stomach Mucosa	stomach
35	chr12:121784800-121788600	Weak transcription	NH-A	brain
36	chr12:121784800-121788800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:121784800-121788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121784800-121788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:121784800-121788800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121784800-121788800	Weak transcription	Fetal Intestine Small	intestine
41	chr12:121784800-121788800	Weak transcription	Fetal Lung	lung
42	chr12:121785000-121788600	Weak transcription	NHEK	skin
43	chr12:121785000-121788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:121785000-121789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:121785200-121788400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:121785200-121788400	Weak transcription	Placenta	Placenta
47	chr12:121785200-121788600	Weak transcription	Adipose Nuclei	Adipose
48	chr12:121785200-121788600	Weak transcription	Thymus	Thymus
49	chr12:121785400-121788400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121785400-121788400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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