Variant report

Variant	rs4760607
Chromosome Location	chr12:48365265-48365266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48363983..48366127-chr12:48370745..48372999,2	MCF-7	breast:
2	chr12:48362502..48365466-chr12:48366201..48368271,2	K562	blood:
3	chr12:48362584..48365917-chr12:48368904..48372045,3	K562	blood:
4	chr12:48365132..48368005-chr12:48368353..48370036,2	K562	blood:
5	chr12:48360838..48363620-chr12:48364578..48367184,3	K562	blood:
6	chr12:48356653..48359359-chr12:48363444..48365828,3	MCF-7	breast:
7	chr12:48298891..48301417-chr12:48363482..48365531,2	K562	blood:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction
ENSG00000134291	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10875712	1.00[CHB][hapmap]
rs1635554	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs1635557	0.92[EUR][1000 genomes]
rs17122571	0.82[MEX][hapmap]
rs1793959	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs4760674	1.00[CHB][hapmap]
rs7964582	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv519174	chr12:48359984-48365265	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3441390	chr12:48364560-48366783	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
4	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:48358600-48366600	Weak transcription	Fetal Lung	lung
9	chr12:48358600-48369400	Weak transcription	Fetal Kidney	kidney
10	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48358800-48366000	Weak transcription	HepG2	liver
12	chr12:48358800-48366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:48359600-48366600	Strong transcription	Thymus	Thymus
15	chr12:48360000-48366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48360000-48368200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:48360200-48369600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:48361800-48366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48362200-48366000	Weak transcription	Colonic Mucosa	Colon
20	chr12:48362200-48368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:48362400-48370600	Weak transcription	HMEC	breast
22	chr12:48362400-48370800	Weak transcription	NHEK	skin
23	chr12:48362600-48365800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:48362600-48367200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:48362800-48366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:48362800-48366200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:48362800-48367600	Weak transcription	Small Intestine	intestine
28	chr12:48362800-48368000	Weak transcription	Fetal Brain Female	brain
29	chr12:48363000-48365800	Weak transcription	Lung	lung
30	chr12:48363000-48367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:48363000-48367800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:48363000-48368800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:48363000-48370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:48363200-48366200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:48363200-48370800	Weak transcription	Fetal Stomach	stomach
37	chr12:48363400-48365400	Weak transcription	NHLF	lung
38	chr12:48363400-48365600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:48363400-48366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:48363400-48366000	Weak transcription	Gastric	stomach
41	chr12:48363400-48366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:48363400-48366400	Weak transcription	Aorta	Aorta
43	chr12:48363400-48366600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:48363400-48366600	Weak transcription	Pancreas	Pancrea
45	chr12:48363400-48367800	Weak transcription	Dnd41	blood
46	chr12:48363400-48368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:48363400-48368200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:48363400-48369000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:48363400-48370800	Weak transcription	Fetal Thymus	thymus
50	chr12:48363400-48374800	Weak transcription	Duodenum Mucosa	Duodenum

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