Variant report

Variant	rs12312757
Chromosome Location	chr12:122964118-122964119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122963509..122967498-chr12:122967816..122972555,6	K562	blood:
2	chr12:122962859..122966810-chr12:122974008..122976881,3	MCF-7	breast:
3	chr12:122963976..122966781-chr12:123007463..123009928,2	K562	blood:
4	chr12:122963986..122965656-chr12:122973612..122975315,2	K562	blood:
5	chr12:122963986..122969547-chr12:122973025..122978031,11	K562	blood:
6	chr12:122962799..122967198-chr12:122967575..122970960,5	K562	blood:

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction
ENSG00000252192	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11058290	1.00[AMR][1000 genomes]
rs11058435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377981	0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133070	0.83[AMR][1000 genomes]
rs7294365	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299845	0.83[AMR][1000 genomes]
rs7961579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969173	0.83[AMR][1000 genomes]
rs7974085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7978870	0.84[YRI][hapmap];0.83[AMR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122955200-122983400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122955200-122983400	Strong transcription	Fetal Thymus	thymus
3	chr12:122955600-122980800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:122955600-122981200	Strong transcription	Dnd41	blood
5	chr12:122955600-122982200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122955600-122982600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:122955800-122977600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr12:122956200-122964800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:122956200-122972600	Weak transcription	Stomach Mucosa	stomach
10	chr12:122956200-122984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:122956600-122982400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:122956600-122982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122956600-122983000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:122956800-122966200	Strong transcription	Fetal Intestine Small	intestine
15	chr12:122956800-122966600	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:122956800-122969600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:122957000-122965400	Strong transcription	Esophagus	oesophagus
18	chr12:122957000-122966200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:122957000-122966200	Strong transcription	Fetal Stomach	stomach
20	chr12:122957000-122966200	Strong transcription	Lung	lung
21	chr12:122957000-122966600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:122957000-122966600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122957000-122966600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:122957000-122969200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:122957000-122971400	Strong transcription	Liver	Liver
26	chr12:122957000-122973600	Strong transcription	Fetal Intestine Large	intestine
27	chr12:122957000-122977600	Strong transcription	Thymus	Thymus
28	chr12:122957000-122977800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:122957000-122978200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:122957000-122981200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:122957000-122981600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122957000-122981800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:122957000-122982600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:122957200-122966000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr12:122957200-122968200	Strong transcription	HSMM	muscle
36	chr12:122957200-122968400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr12:122957200-122971400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:122957200-122977000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:122957200-122977600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:122957200-122977600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:122957200-122977600	Strong transcription	Adipose Nuclei	Adipose
42	chr12:122957200-122977600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:122957200-122977800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122957200-122977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:122957200-122977800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:122957200-122978000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:122957200-122978400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:122957200-122979600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:122957200-122981400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:122957200-122982000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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