Variant report

Variant	rs313316
Chromosome Location	chr12:104963913-104963914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104902488..104905052-chr12:104962127..104964192,2	K562	blood:
2	chr12:104962294..104965284-chr12:104969742..104971271,2	K562	blood:
3	chr12:104963784..104965838-chr12:104968298..104971242,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1622100	0.92[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs1650126	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1650127	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1704878	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1704879	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2665741	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs313317	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313318	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs313324	0.83[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104947800-104964400	Weak transcription	Aorta	Aorta
2	chr12:104949600-104968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104958400-104969000	Weak transcription	A549	lung
5	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104959400-104964000	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:104959400-104965400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:104959400-104965600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:104960000-104964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:104960000-104964600	Weak transcription	Left Ventricle	heart
11	chr12:104960400-104964000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
13	chr12:104961200-104965400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:104961200-104965400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:104961200-104965600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:104961200-104965600	Enhancers	Fetal Thymus	thymus
17	chr12:104961400-104965400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104961600-104964400	Enhancers	Thymus	Thymus
19	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:104962200-104964400	Enhancers	K562	blood
21	chr12:104962200-104969400	Weak transcription	Pancreas	Pancrea
22	chr12:104962200-104969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:104962400-104965600	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:104962800-104964200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:104962800-104964400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:104963000-104964400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:104963000-104964400	Enhancers	Spleen	Spleen
29	chr12:104963000-104965600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:104963200-104964400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:104963200-104964400	Enhancers	Adipose Nuclei	Adipose
32	chr12:104963200-104964800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:104963400-104964000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104963400-104964000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:104963400-104964000	Enhancers	Fetal Muscle Leg	muscle
36	chr12:104963400-104964000	Flanking Active TSS	Dnd41	blood
37	chr12:104963400-104964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:104963400-104964200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:104963400-104964200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:104963400-104964400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:104963400-104964400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:104963400-104964400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:104963400-104964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:104963400-104964400	Enhancers	Colonic Mucosa	Colon
45	chr12:104963400-104964400	Enhancers	Lung	lung
46	chr12:104963400-104965200	Enhancers	Placenta	Placenta
47	chr12:104963400-104965600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:104963400-104974800	Weak transcription	Gastric	stomach
49	chr12:104963600-104964600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr12:104963600-104965400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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