Variant report

Variant	rs203336
Chromosome Location	chr12:120244697-120244698
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr12:120244613-120245167	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120208689..120211170-chr12:120242508..120245374,3	MCF-7	breast:

Variant related genes	Relation type
CIT	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10744743	0.89[EUR][1000 genomes]
rs10774514	0.89[EUR][1000 genomes]
rs10774515	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774516	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182807	0.89[EUR][1000 genomes]
rs1796127	0.89[EUR][1000 genomes]
rs203340	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs203356	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107661	0.84[EUR][1000 genomes]
rs280582	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs280583	0.86[EUR][1000 genomes]
rs280588	0.90[EUR][1000 genomes]
rs280589	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372803	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377876	0.95[EUR][1000 genomes]
rs3847959	0.86[EUR][1000 genomes]
rs3847960	0.84[EUR][1000 genomes]
rs430998	0.86[EUR][1000 genomes]
rs435136	0.89[EUR][1000 genomes]
rs450902	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473430	0.88[EUR][1000 genomes]
rs4767847	0.89[EUR][1000 genomes]
rs4767848	0.89[EUR][1000 genomes]
rs4767849	0.84[EUR][1000 genomes]
rs574967	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6490270	0.86[EUR][1000 genomes]
rs7294469	0.87[EUR][1000 genomes]
rs7308076	0.89[EUR][1000 genomes]
rs740032	0.88[EUR][1000 genomes]
rs804709	0.84[EUR][1000 genomes]

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120190000-120244800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:120223000-120255800	Weak transcription	HepG2	liver
4	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:120229400-120256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:120231000-120244800	Strong transcription	Dnd41	blood
7	chr12:120232000-120246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:120237200-120246400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120237400-120250600	Weak transcription	Hela-S3	cervix
10	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:120242000-120244800	Weak transcription	K562	blood
12	chr12:120242200-120244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120242400-120244800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:120242400-120245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120242600-120244800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:120242600-120244800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:120242600-120246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:120242600-120246400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:120242600-120246600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:120242600-120247400	Weak transcription	Thymus	Thymus
21	chr12:120242600-120247600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:120242600-120254200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:120242600-120259800	Weak transcription	NH-A	brain
24	chr12:120242600-120260200	Weak transcription	HUVEC	blood vessel
25	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
29	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
31	chr12:120242800-120244800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:120242800-120244800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:120242800-120244800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:120242800-120244800	Weak transcription	Fetal Brain Female	brain
35	chr12:120242800-120244800	Weak transcription	Fetal Heart	heart
36	chr12:120242800-120245800	Weak transcription	NHEK	skin
37	chr12:120242800-120246000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:120242800-120246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:120242800-120247200	Weak transcription	Fetal Thymus	thymus
40	chr12:120242800-120247400	Weak transcription	Fetal Lung	lung
41	chr12:120242800-120247600	Weak transcription	Fetal Stomach	stomach
42	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:120243000-120244800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:120243000-120246000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:120243200-120244800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:120243200-120246000	Weak transcription	HMEC	breast
47	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:120243400-120244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:120243400-120244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:120243400-120246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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