Variant report

Variant	rs10849699
Chromosome Location	chr12:120245233-120245234
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	GATA3	chr12:120245202-120245531	T-47D	breast:	n/a	n/a
2	GATA3	chr12:120245227-120245515	T-47D	breast:	n/a	n/a
3	FOXA1	chr12:120245215-120245518	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:120245100-120245580	T-47D	breast:	n/a	n/a
5	FOXA1	chr12:120245124-120245527	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:120245196-120245512	HepG2	liver:	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: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10744743	0.89[CHB][hapmap]
rs10774514	0.89[CHB][hapmap]
rs11064878	0.87[EUR][1000 genomes]
rs11064902	0.87[EUR][1000 genomes]
rs11064910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11064913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11064918	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064926	0.87[EUR][1000 genomes]
rs11064929	0.87[EUR][1000 genomes]
rs11064930	0.87[EUR][1000 genomes]
rs11064931	0.87[EUR][1000 genomes]
rs11064933	0.87[EUR][1000 genomes]
rs11064934	0.87[EUR][1000 genomes]
rs11064935	0.87[EUR][1000 genomes]
rs11064936	0.87[EUR][1000 genomes]
rs11064937	0.87[EUR][1000 genomes]
rs11064938	0.87[EUR][1000 genomes]
rs11064939	0.87[EUR][1000 genomes]
rs11064940	0.87[EUR][1000 genomes]
rs11064941	0.87[EUR][1000 genomes]
rs11064942	0.87[EUR][1000 genomes]
rs11064944	0.87[EUR][1000 genomes]
rs1182807	1.00[CHB][hapmap]
rs12231774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs280581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742046	0.87[EUR][1000 genomes]
rs377876	1.00[CHB][hapmap]
rs3809307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847960	0.89[CHB][hapmap]
rs435136	0.89[CHB][hapmap]
rs4767847	0.89[CHB][hapmap]
rs4767848	0.89[CHB][hapmap]
rs4767849	0.89[CHB][hapmap]
rs55680945	0.87[EUR][1000 genomes]
rs57617020	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58261374	0.87[EUR][1000 genomes]
rs58974044	0.87[EUR][1000 genomes]
rs59953935	0.87[EUR][1000 genomes]
rs60782728	0.87[EUR][1000 genomes]
rs7295984	0.84[ASN][1000 genomes]
rs7308076	0.89[CHB][hapmap]
rs740032	0.89[CHB][hapmap]
rs7966776	0.87[EUR][1000 genomes]
rs7971089	0.87[EUR][1000 genomes]
rs7975107	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7978181	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120255800	Weak transcription	HepG2	liver
3	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:120229400-120256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:120232000-120246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120237200-120246400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:120237400-120250600	Weak transcription	Hela-S3	cervix
8	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:120242400-120245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:120242600-120246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:120242600-120246400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:120242600-120246600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:120242600-120247400	Weak transcription	Thymus	Thymus
14	chr12:120242600-120247600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:120242600-120254200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:120242600-120259800	Weak transcription	NH-A	brain
17	chr12:120242600-120260200	Weak transcription	HUVEC	blood vessel
18	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
24	chr12:120242800-120245800	Weak transcription	NHEK	skin
25	chr12:120242800-120246000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:120242800-120246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:120242800-120247200	Weak transcription	Fetal Thymus	thymus
28	chr12:120242800-120247400	Weak transcription	Fetal Lung	lung
29	chr12:120242800-120247600	Weak transcription	Fetal Stomach	stomach
30	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:120243000-120246000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:120243200-120246000	Weak transcription	HMEC	breast
33	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:120243400-120246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:120243400-120246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:120243400-120246000	Weak transcription	NHDF-Ad	bronchial
37	chr12:120243400-120246000	Weak transcription	NHLF	lung
38	chr12:120243400-120246000	Weak transcription	Osteobl	bone
39	chr12:120243400-120259400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:120243600-120246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:120244200-120246600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:120244600-120245400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:120244600-120245400	ZNF genes & repeats	A549	lung
44	chr12:120244600-120245600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr12:120244600-120245600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:120244600-120245600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:120244600-120245600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr12:120244600-120246800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:120244600-120246800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:120244600-120248200	Strong transcription	Monocytes-CD14+_RO01746	blood

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