Variant report

Variant	rs10748417
Chromosome Location	chr12:45675892-45675893
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45625766..45629467-chr12:45675676..45680562,5	MCF-7	breast:
2	chr12:45609793..45614117-chr12:45674946..45678872,5	MCF-7	breast:
3	chr12:45608418..45611765-chr12:45675004..45680451,7	MCF-7	breast:
4	chr12:45622554..45624408-chr12:45673462..45676280,2	K562	blood:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1004598	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1019584	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748418	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10748420	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785559	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785565	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10785568	0.90[AMR][1000 genomes]
rs10880767	0.90[AMR][1000 genomes]
rs10880773	0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182971	0.90[AMR][1000 genomes]
rs1238407	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1862907	0.90[AMR][1000 genomes]
rs1877972	0.90[AMR][1000 genomes]
rs1896027	0.81[AFR][1000 genomes]
rs1913691	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037855	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4140756	1.00[AMR][1000 genomes]
rs4768087	0.81[AFR][1000 genomes]
rs4768604	0.90[AMR][1000 genomes]
rs6582542	0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6582543	0.90[AMR][1000 genomes]
rs7135029	0.81[AFR][1000 genomes]
rs7953360	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7960422	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970250	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970619	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
12	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:45664000-45676000	Weak transcription	Fetal Stomach	stomach
14	chr12:45664000-45678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:45664400-45677600	Weak transcription	Fetal Kidney	kidney
16	chr12:45665600-45676000	Weak transcription	Thymus	Thymus
17	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:45668000-45677400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:45668200-45676000	Weak transcription	Gastric	stomach
20	chr12:45668200-45677400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:45668200-45678200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:45668600-45677400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:45668600-45677600	Weak transcription	Spleen	Spleen
25	chr12:45668600-45679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
27	chr12:45668800-45676600	Weak transcription	HUVEC	blood vessel
28	chr12:45668800-45677000	Weak transcription	HMEC	breast
29	chr12:45668800-45677200	Weak transcription	HSMM	muscle
30	chr12:45668800-45677200	Weak transcription	NH-A	brain
31	chr12:45668800-45677200	Weak transcription	NHDF-Ad	bronchial
32	chr12:45668800-45677400	Weak transcription	Hela-S3	cervix
33	chr12:45670200-45677200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:45670200-45677400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:45670200-45677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:45670200-45677800	Weak transcription	HSMMtube	muscle
37	chr12:45670200-45680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:45670400-45676400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:45670400-45677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:45670400-45677600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:45670800-45677600	Weak transcription	NHLF	lung
42	chr12:45672600-45677200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:45672600-45677200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:45672600-45677200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:45673600-45677800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:45673800-45676000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:45673800-45676400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:45674000-45676000	Enhancers	Right Atrium	heart
49	chr12:45674000-45676400	Strong transcription	Primary B cells from cord blood	blood
50	chr12:45674000-45676400	Strong transcription	Dnd41	blood

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