Variant report

Variant	rs2950417
Chromosome Location	chr12:121788466-121788467
allele	C/T
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:11)
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	MAX	chr12:121788334-121788668	K562	blood:	n/a	n/a
2	ZNF384	chr12:121788330-121788751	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121788398..121791185-chr12:122239854..122241359,2	MCF-7	breast:
2	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
3	chr12:121781138..121784693-chr12:121787374..121790702,7	MCF-7	breast:
4	chr12:121787060..121789469-chr12:121802876..121804404,2	MCF-7	breast:
5	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
6	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:
7	chr12:121785461..121788491-chr12:121789239..121792486,3	K562	blood:
8	chr12:121785517..121787632-chr12:121788366..121790709,4	MCF-7	breast:
9	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
10	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
11	chr12:121787879..121789502-chr12:121829708..121832701,3	K562	blood:

No data

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000258435	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11065536	0.91[ASN][1000 genomes]
rs1169961	0.95[ASN][1000 genomes]
rs1169962	0.91[ASN][1000 genomes]
rs1169963	0.92[ASN][1000 genomes]
rs1622534	0.96[ASN][1000 genomes]
rs1624953	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1647253	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1647256	0.92[ASN][1000 genomes]
rs1706463	0.82[ASN][1000 genomes]
rs1799525	0.92[ASN][1000 genomes]
rs1799526	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668259	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2668260	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2668262	0.92[ASN][1000 genomes]
rs2695142	0.86[ASN][1000 genomes]
rs2695143	0.80[ASN][1000 genomes]
rs2695148	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2695149	0.92[ASN][1000 genomes]
rs2942074	0.86[ASN][1000 genomes]
rs7397643	0.91[ASN][1000 genomes]
rs7398701	0.96[ASN][1000 genomes]

No data

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	chr12:121783600-121789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:121784000-121788600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:121784000-121788800	Weak transcription	Psoas Muscle	Psoas
11	chr12:121784000-121788800	Weak transcription	HSMMtube	muscle
12	chr12:121784000-121789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:121784000-121789000	Weak transcription	Gastric	stomach
14	chr12:121784000-121789400	Weak transcription	Aorta	Aorta
15	chr12:121784200-121788600	Weak transcription	NHDF-Ad	bronchial
16	chr12:121784200-121789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:121784200-121789000	Weak transcription	Esophagus	oesophagus
18	chr12:121784200-121789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:121784400-121788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:121784400-121788800	Weak transcription	Left Ventricle	heart
21	chr12:121784400-121789000	Weak transcription	Brain Germinal Matrix	brain
22	chr12:121784400-121789000	Weak transcription	Colonic Mucosa	Colon
23	chr12:121784400-121789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121784600-121788600	Weak transcription	Fetal Kidney	kidney
25	chr12:121784600-121789000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:121784800-121788600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:121784800-121788600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:121784800-121788600	Weak transcription	Stomach Mucosa	stomach
29	chr12:121784800-121788600	Weak transcription	NH-A	brain
30	chr12:121784800-121788800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:121784800-121788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:121784800-121788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:121784800-121788800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:121784800-121788800	Weak transcription	Fetal Intestine Small	intestine
35	chr12:121784800-121788800	Weak transcription	Fetal Lung	lung
36	chr12:121785000-121788600	Weak transcription	NHEK	skin
37	chr12:121785000-121788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:121785000-121789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:121785200-121788600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:121785200-121788600	Weak transcription	Thymus	Thymus
41	chr12:121785400-121788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:121785400-121788600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:121785400-121788600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:121785400-121788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:121785400-121788600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:121785400-121788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:121785400-121788800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:121785400-121789000	Weak transcription	NHLF	lung
49	chr12:121785600-121788600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:121785600-121788600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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