Variant report

Variant	rs12296966
Chromosome Location	chr12:51140203-51140204
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51137579..51140558-chr12:51140952..51144654,5	K562	blood:
2	chr12:51139833..51142422-chr12:51145085..51147919,2	MCF-7	breast:
3	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
4	chr12:51132615..51134181-chr12:51138465..51141372,2	K562	blood:
5	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
6	chr12:51138743..51142670-chr12:51153238..51158236,5	K562	blood:
7	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:
8	chr12:51127689..51130073-chr12:51139077..51141310,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

rs_ID	r²[population]
rs11169548	0.85[AMR][1000 genomes]
rs12301118	0.85[AMR][1000 genomes]
rs12301934	0.85[AMR][1000 genomes]
rs12305291	0.85[AMR][1000 genomes]
rs12308023	0.85[AMR][1000 genomes]
rs12322206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124949	0.85[AMR][1000 genomes]
rs1975351	0.87[AFR][1000 genomes]
rs939633	0.85[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
5	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:51096000-51142000	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
13	chr12:51108200-51142200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:51110600-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:51110800-51142200	Strong transcription	Lung	lung
17	chr12:51111400-51141600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51111400-51141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51111400-51144600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:51111600-51142200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:51112000-51141800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:51112000-51142000	Strong transcription	Dnd41	blood
23	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
24	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:51114800-51141800	Strong transcription	HepG2	liver
27	chr12:51114800-51142400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:51116200-51144000	Strong transcription	Fetal Intestine Large	intestine
29	chr12:51116800-51144000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:51118200-51143600	Strong transcription	Adipose Nuclei	Adipose
32	chr12:51119200-51144600	Strong transcription	Liver	Liver
33	chr12:51120200-51140400	Strong transcription	Fetal Intestine Small	intestine
34	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
35	chr12:51121400-51142200	Strong transcription	GM12878-XiMat	blood
36	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:51121600-51142000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:51121600-51142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:51123000-51142400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:51123200-51141800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:51126600-51145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:51128400-51142000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:51128600-51141600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:51128600-51142400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr12:51128600-51144200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:51128800-51142000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:51128800-51142000	Strong transcription	Ovary	ovary
49	chr12:51129600-51142600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:51129600-51144600	Strong transcription	Brain Anterior Caudate	brain

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