Variant report

Variant	rs7978381
Chromosome Location	chr12:50045987-50045988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50015579..50017375-chr12:50043895..50046684,2	MCF-7	breast:
2	chr12:50032076..50035986-chr12:50043238..50048000,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110844	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11830472	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11831670	1.00[AFR][1000 genomes]
rs11831673	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11832420	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11832727	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs11833472	0.93[AFR][1000 genomes]
rs11835085	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11837637	1.00[GIH][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs3861577	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs56840810	0.90[AFR][1000 genomes]
rs57489906	0.90[AFR][1000 genomes]
rs59576871	0.83[AFR][1000 genomes]
rs7310069	0.90[AFR][1000 genomes]
rs7313183	1.00[YRI][hapmap]
rs7960185	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7973011	0.87[AFR][1000 genomes]

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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50031600-50052200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:50031800-50056200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50033200-50052600	Strong transcription	Brain Germinal Matrix	brain
5	chr12:50033800-50048800	Strong transcription	Fetal Brain Female	brain
6	chr12:50034200-50053000	Strong transcription	NHLF	lung
7	chr12:50034200-50056200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:50035600-50049800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:50035600-50055000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:50035800-50048800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:50036600-50050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:50036800-50054600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:50038000-50051800	Weak transcription	Colonic Mucosa	Colon
17	chr12:50038800-50055600	Weak transcription	K562	blood
18	chr12:50038800-50056200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:50039000-50055400	Strong transcription	Dnd41	blood
20	chr12:50039200-50048200	Strong transcription	Ovary	ovary
21	chr12:50039200-50052800	Strong transcription	Thymus	Thymus
22	chr12:50039200-50053600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:50039400-50048400	Weak transcription	Fetal Heart	heart
24	chr12:50039400-50054600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:50039600-50046800	Weak transcription	NHDF-Ad	bronchial
26	chr12:50039600-50049200	Weak transcription	Right Atrium	heart
27	chr12:50039800-50047200	Weak transcription	Liver	Liver
28	chr12:50040000-50046800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:50040000-50054400	Strong transcription	Primary B cells from cord blood	blood
30	chr12:50040200-50049200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:50040600-50048200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:50041000-50046600	Weak transcription	NHEK	skin
33	chr12:50041400-50046000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:50041400-50055200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:50041400-50056200	Strong transcription	NH-A	brain
36	chr12:50041800-50049800	Strong transcription	Fetal Thymus	thymus
37	chr12:50041800-50053800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:50041800-50054000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:50042000-50048600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:50042000-50054400	Strong transcription	GM12878-XiMat	blood
41	chr12:50042000-50055800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:50042200-50049000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:50042200-50055200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:50042200-50055800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:50042400-50049800	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:50042400-50052400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:50042400-50053400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:50042400-50056400	Strong transcription	HSMM	muscle
49	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
50	chr12:50042600-50046000	Strong transcription	Primary hematopoietic stem cells	blood

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