Variant report

Variant	rs12371048
Chromosome Location	chr12:122973412-122973413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:122973366-122974079	K562	blood:	n/a	n/a
2	FOXA1	chr12:122973378-122974164	HepG2	liver:	n/a	n/a
3	GATA1	chr12:122973412-122974270	PBDE	blood:	n/a	chr12:122974235-122974244
4	CEBPD	chr12:122973403-122974059	K562	blood:	n/a	n/a
5	FOXA2	chr12:122973219-122974370	HepG2	liver:	n/a	n/a
6	MYBL2	chr12:122973369-122974086	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122972183..122974885-chr12:123005159..123006842,2	K562	blood:
2	chr12:122970449..122974618-chr12:122982583..122986938,8	K562	blood:
3	chr12:122750353..122752141-chr12:122972010..122974191,2	MCF-7	breast:
4	chr12:122963986..122969547-chr12:122973025..122978031,11	K562	blood:
5	chr12:122961001..122963947-chr12:122971882..122974481,2	MCF-7	breast:
6	chr12:122906314..122908348-chr12:122972318..122974473,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10744242	0.88[EUR][1000 genomes]
rs10773230	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10846968	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846993	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10847090	0.92[EUR][1000 genomes]
rs11058272	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11058362	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058398	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058562	0.84[AFR][1000 genomes]
rs11610303	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11615830	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817342	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12825762	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12828165	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532578	0.92[EUR][1000 genomes]
rs2133557	0.95[EUR][1000 genomes]
rs4356269	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758657	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758658	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758660	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4758692	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57311174	0.88[EUR][1000 genomes]
rs58600355	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61956119	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6416295	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489014	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489051	0.92[EUR][1000 genomes]
rs6489056	0.88[EUR][1000 genomes]
rs7132830	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7134381	0.88[EUR][1000 genomes]
rs7136564	0.92[EUR][1000 genomes]
rs7296680	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297866	0.88[EUR][1000 genomes]
rs7298839	0.91[EUR][1000 genomes]
rs7303688	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307867	0.88[EUR][1000 genomes]
rs7311573	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7486949	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955513	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967928	0.90[EUR][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	chr12:122956200-122984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:122956600-122982400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122956600-122982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122956600-122983000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:122957000-122973600	Strong transcription	Fetal Intestine Large	intestine
13	chr12:122957000-122977600	Strong transcription	Thymus	Thymus
14	chr12:122957000-122977800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:122957000-122978200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:122957000-122981200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:122957000-122981600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:122957000-122981800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122957000-122982600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:122957200-122977000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:122957200-122977600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:122957200-122977600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122957200-122977600	Strong transcription	Adipose Nuclei	Adipose
24	chr12:122957200-122977600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:122957200-122977800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:122957200-122977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:122957200-122977800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:122957200-122978000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:122957200-122978400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:122957200-122979600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:122957200-122981400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:122957200-122982000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:122957200-122983000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:122957400-122977600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:122957400-122978000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:122957400-122980600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:122957400-122981200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:122957600-122974400	Strong transcription	Fetal Brain Female	brain
39	chr12:122957600-122977000	Strong transcription	Brain Germinal Matrix	brain
40	chr12:122957600-122977600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:122957600-122978800	Strong transcription	Brain Anterior Caudate	brain
42	chr12:122957800-122977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:122957800-122977200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:122957800-122977200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr12:122957800-122977800	Strong transcription	Primary B cells from cord blood	blood
46	chr12:122957800-122977800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:122957800-122977800	Strong transcription	Placenta	Placenta
48	chr12:122958000-122977000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:122958000-122982600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:122958600-122981000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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