Variant report

Variant	rs2250709
Chromosome Location	chr12:106711110-106711111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106696710..106704900-chr12:106706895..106711407,9	MCF-7	breast:
2	chr12:106702332..106705021-chr12:106709176..106711287,2	MCF-7	breast:
3	chr12:106700481..106701223-chr12:106710836..106711809,2	K562	blood:

Variant related genes	Relation type
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10861572	0.95[ASN][1000 genomes]
rs10861574	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861575	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112931	0.94[ASN][1000 genomes]
rs1532587	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1921953	0.80[ASN][1000 genomes]
rs2077730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2249837	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2250108	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250705	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250708	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250713	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250936	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264757	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264762	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2264814	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2264815	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2264816	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279759	0.99[ASN][1000 genomes]
rs2465356	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35816179	0.95[ASN][1000 genomes]
rs36139467	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314289	0.95[ASN][1000 genomes]
rs904614	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250709	TCP11L2	cis	Whole Blood	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106699600-106713800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:106699800-106713200	Weak transcription	Esophagus	oesophagus
3	chr12:106699800-106718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:106700600-106736000	Weak transcription	Stomach Mucosa	stomach
5	chr12:106703000-106722800	Weak transcription	Fetal Brain Male	brain
6	chr12:106703600-106714400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:106703600-106715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:106703800-106718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:106704000-106716000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:106704200-106711400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:106704200-106715000	Weak transcription	HepG2	liver
12	chr12:106704200-106715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:106704200-106715400	Weak transcription	NHDF-Ad	bronchial
14	chr12:106704200-106716800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:106704200-106729400	Weak transcription	NHLF	lung
16	chr12:106704200-106729800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:106704400-106712200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:106704600-106717600	Weak transcription	HSMM	muscle
19	chr12:106704600-106724400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106704800-106715200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:106704800-106726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:106704800-106738800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:106705000-106711200	Weak transcription	Aorta	Aorta
24	chr12:106705000-106711400	Weak transcription	Fetal Heart	heart
25	chr12:106705000-106714400	Weak transcription	HSMMtube	muscle
26	chr12:106705200-106711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:106705200-106715200	Weak transcription	Colonic Mucosa	Colon
28	chr12:106705200-106715200	Weak transcription	Gastric	stomach
29	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:106705400-106731600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:106705800-106725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:106706000-106727800	Strong transcription	Placenta	Placenta
34	chr12:106706200-106714800	Strong transcription	Adipose Nuclei	Adipose
35	chr12:106707800-106716200	Weak transcription	HUVEC	blood vessel
36	chr12:106707800-106721000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:106707800-106721800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:106707800-106726400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:106707800-106738800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:106707800-106738800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:106708000-106711200	Strong transcription	Liver	Liver
42	chr12:106708000-106713600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:106708000-106714200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:106708000-106714600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:106708000-106716600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:106708000-106720600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:106708000-106720600	Strong transcription	Lung	lung
48	chr12:106708000-106720800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr12:106708000-106721400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:106708000-106721600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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