Variant report

Variant	rs313318
Chromosome Location	chr12:104962244-104962245
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	chr12:104850629..104852637-chr12:104960926..104962578,2	K562	blood:
2	chr12:104902488..104905052-chr12:104962127..104964192,2	K562	blood:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1622100	0.87[ASW][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1650126	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1650127	0.87[ASW][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1704878	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1704879	0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17207200	0.84[YRI][hapmap]
rs2665741	0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs313316	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs313317	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313324	0.81[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs313318	UTP20	cis	parietal	SCAN

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	chr12:104949800-104963400	Weak transcription	Lung	lung
4	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:104957200-104962400	Genic enhancers	Dnd41	blood
6	chr12:104958400-104969000	Weak transcription	A549	lung
7	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:104958800-104962800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:104959200-104963800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:104959400-104962400	Enhancers	GM12878-XiMat	blood
11	chr12:104959400-104964000	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:104959400-104965400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:104959400-104965600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:104959600-104963200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:104960000-104963200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:104960000-104963200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:104960000-104964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104960000-104964600	Weak transcription	Left Ventricle	heart
19	chr12:104960400-104962600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:104960400-104963200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:104960400-104963400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:104960400-104963400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:104960400-104964000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:104960600-104962800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
26	chr12:104960800-104962600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:104961000-104962800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:104961200-104962800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:104961200-104962800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:104961200-104965400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:104961200-104965400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:104961200-104965600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:104961200-104965600	Enhancers	Fetal Thymus	thymus
34	chr12:104961400-104962800	Genic enhancers	Primary B cells from cord blood	blood
35	chr12:104961400-104965400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:104961600-104962400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:104961600-104962400	Enhancers	Brain Hippocampus Middle	brain
38	chr12:104961600-104962400	Enhancers	Fetal Brain Male	brain
39	chr12:104961600-104963800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:104961600-104964400	Enhancers	Thymus	Thymus
41	chr12:104961800-104962400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:104961800-104962400	Enhancers	Fetal Heart	heart
43	chr12:104961800-104962400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:104961800-104962600	Enhancers	Spleen	Spleen
45	chr12:104961800-104962800	Enhancers	Primary T cells from cord blood	blood
46	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:104962000-104962400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:104962000-104962400	Enhancers	Brain Germinal Matrix	brain
49	chr12:104962000-104962400	Enhancers	Gastric	stomach
50	chr12:104962000-104963000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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