Variant report

Variant	rs12305096
Chromosome Location	chr12:50059799-50059800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50027133..50028767-chr12:50057357..50059815,2	K562	blood:
2	chr12:50058737..50060744-chr12:50060890..50062454,2	K562	blood:
3	chr12:50057880..50060234-chr21:47402833..47404920,2	MCF-7	breast:
4	chr12:50059406..50061559-chr12:50099659..50102514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11169074	0.87[AFR][1000 genomes]
rs11169099	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12298155	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12302063	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12310796	1.00[YRI][hapmap]
rs12315713	0.87[AFR][1000 genomes]
rs12322692	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7133106	1.00[YRI][hapmap]
rs7135265	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs7974626	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
4	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
6	chr12:50053600-50060000	Enhancers	Adipose Nuclei	Adipose
7	chr12:50054400-50060200	Enhancers	Placenta	Placenta
8	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
9	chr12:50054600-50061000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr12:50055200-50059800	Enhancers	Fetal Intestine Large	intestine
11	chr12:50055200-50060000	Enhancers	Brain Anterior Caudate	brain
12	chr12:50055200-50060200	Enhancers	Small Intestine	intestine
13	chr12:50055400-50060800	Genic enhancers	Fetal Stomach	stomach
14	chr12:50055400-50061400	Enhancers	Brain Substantia Nigra	brain
15	chr12:50055600-50062400	Enhancers	Psoas Muscle	Psoas
16	chr12:50056000-50060000	Enhancers	Liver	Liver
17	chr12:50056400-50060000	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:50057000-50060000	Genic enhancers	Fetal Intestine Small	intestine
19	chr12:50057400-50059800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:50057400-50059800	Enhancers	Osteobl	bone
21	chr12:50057400-50060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:50057400-50060000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:50057400-50060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:50057400-50060200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:50057400-50063800	Weak transcription	Ovary	ovary
26	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:50057600-50059800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:50057600-50059800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:50057600-50059800	Enhancers	HUVEC	blood vessel
30	chr12:50057600-50060000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:50057600-50060800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:50057600-50063200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:50057600-50064400	Weak transcription	Gastric	stomach
34	chr12:50057600-50064400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:50057600-50064400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:50057600-50064800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:50057600-50065000	Weak transcription	Pancreas	Pancrea
38	chr12:50057600-50065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:50057600-50066000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:50057600-50066200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
42	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:50057800-50060000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:50057800-50063800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:50057800-50066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:50058000-50060200	Genic enhancers	Fetal Lung	lung
50	chr12:50058000-50062600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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