Variant report

Variant	rs10876007
Chromosome Location	chr12:50554967-50554968
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50551631..50557676-chr12:50558333..50562130,9	MCF-7	breast:
2	chr12:50553298..50556362-chr12:50560092..50562291,3	MCF-7	breast:
3	chr12:50503942..50506675-chr12:50554124..50556312,2	MCF-7	breast:
4	chr12:50554407..50556137-chr12:50559310..50562899,4	K562	blood:
5	chr12:50544718..50546779-chr12:50552801..50555276,2	K562	blood:
6	chr12:50554586..50557415-chr12:50565776..50567790,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000178449	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10735822	0.82[EUR][1000 genomes]
rs10735823	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747571	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783336	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783337	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783339	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783341	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10875999	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876001	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876002	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876004	0.88[EUR][1000 genomes]
rs10876006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876011	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169283	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169284	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169285	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12229758	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12314572	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17124448	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1862044	0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2008537	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242507	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277355	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782323	0.83[CHB][hapmap]
rs55639096	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56151073	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131794	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139363	0.83[CHB][hapmap]
rs7297864	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300549	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7305558	0.83[CHB][hapmap]
rs7306213	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73106145	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106156	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7314598	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7316344	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7397849	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7486874	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7953174	0.82[EUR][1000 genomes];0.82[ASN][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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50524000-50559800	Weak transcription	Right Atrium	heart
2	chr12:50529800-50559800	Weak transcription	NHLF	lung
3	chr12:50530000-50559600	Weak transcription	A549	lung
4	chr12:50530000-50560200	Weak transcription	Esophagus	oesophagus
5	chr12:50531600-50558200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:50531800-50558400	Weak transcription	Fetal Brain Male	brain
7	chr12:50532000-50560200	Weak transcription	Aorta	Aorta
8	chr12:50532000-50560200	Weak transcription	Gastric	stomach
9	chr12:50532400-50559800	Weak transcription	Spleen	Spleen
10	chr12:50533200-50559400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50534400-50560200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:50535200-50560000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:50535200-50560200	Weak transcription	Right Ventricle	heart
14	chr12:50535400-50559400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:50535400-50560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:50536400-50560200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:50537200-50558200	Weak transcription	Fetal Brain Female	brain
18	chr12:50537200-50559200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:50537400-50559400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:50537400-50560200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:50537600-50559400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:50537600-50559400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:50537800-50555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:50537800-50556000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:50537800-50558200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:50537800-50558400	Weak transcription	Placenta	Placenta
27	chr12:50537800-50559200	Weak transcription	GM12878-XiMat	blood
28	chr12:50537800-50559400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:50537800-50559400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:50537800-50559400	Weak transcription	Fetal Lung	lung
31	chr12:50537800-50559800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:50537800-50559800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:50537800-50560200	Weak transcription	Left Ventricle	heart
34	chr12:50538000-50556000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:50538200-50558200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:50538200-50559400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:50538200-50559800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:50538200-50559800	Weak transcription	Fetal Thymus	thymus
39	chr12:50538400-50556800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:50538400-50558200	Weak transcription	Dnd41	blood
41	chr12:50538400-50559400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:50538400-50559400	Weak transcription	HSMM	muscle
43	chr12:50538400-50559400	Weak transcription	HSMMtube	muscle
44	chr12:50538400-50559800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:50538600-50556000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:50540200-50559400	Weak transcription	Fetal Heart	heart
47	chr12:50542200-50559800	Weak transcription	Lung	lung
48	chr12:50543400-50559400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:50543400-50559600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:50545200-50560000	Weak transcription	Fetal Kidney	kidney

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