Variant report

Variant	rs313325
Chromosome Location	chr12:104976561-104976562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104970339..104972432-chr12:104974427..104977071,2	K562	blood:
2	chr12:104974991..104976782-chr12:104981716..104984273,2	K562	blood:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12829137	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12829561	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1553836	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1628116	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1704887	0.86[CEU][hapmap]
rs1704889	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704896	0.88[ASN][1000 genomes]
rs1704916	0.88[CHD][hapmap]
rs1704917	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795855	0.88[CHD][hapmap]
rs1795857	0.88[CHD][hapmap]
rs1795859	0.88[CHD][hapmap]
rs1795862	0.82[CHB][hapmap]
rs1795864	0.82[CHB][hapmap]
rs1795865	0.88[ASN][1000 genomes]
rs1795867	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795870	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795872	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1973589	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs2665739	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2665740	1.00[ASN][1000 genomes]
rs313327	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs34725367	0.83[ASN][1000 genomes]
rs35791423	0.83[ASN][1000 genomes]
rs71440862	0.88[ASN][1000 genomes]
rs71468217	0.88[ASN][1000 genomes]
rs71468218	0.88[ASN][1000 genomes]
rs865606	0.94[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
rs313325	UTP20	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
3	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:104969000-104977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:104969000-104978000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:104970000-104977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr12:104970400-104978400	Enhancers	Fetal Thymus	thymus
9	chr12:104971000-104990600	Weak transcription	Lung	lung
10	chr12:104971400-104977000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:104971400-104979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:104971600-104982200	Weak transcription	Right Atrium	heart
13	chr12:104971800-104977600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
15	chr12:104972600-104977400	Enhancers	K562	blood
16	chr12:104972600-104979200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:104973200-104977400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:104973400-104976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:104973400-104976800	Enhancers	Primary B cells from cord blood	blood
20	chr12:104973400-104979800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:104973600-104977200	Enhancers	Fetal Stomach	stomach
22	chr12:104973600-104979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:104974000-104976600	Weak transcription	Dnd41	blood
25	chr12:104974000-104982000	Weak transcription	NH-A	brain
26	chr12:104974200-104976600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:104974200-104981800	Weak transcription	NHDF-Ad	bronchial
28	chr12:104974200-104981800	Weak transcription	Osteobl	bone
29	chr12:104974400-104979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:104974400-104984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:104974600-104977800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:104974600-104988800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:104974600-104990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104975000-104982200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:104975000-104988800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:104975200-104977400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:104975400-104977200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:104975400-104977800	Enhancers	Thymus	Thymus
40	chr12:104975600-104976600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:104975600-104976600	Weak transcription	Small Intestine	intestine
42	chr12:104975600-104977400	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:104975600-104988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:104975600-104992000	Weak transcription	Gastric	stomach
45	chr12:104975800-104977000	Enhancers	Fetal Kidney	kidney
46	chr12:104976000-104976600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:104976000-104976800	Enhancers	Primary T cells from cord blood	blood
48	chr12:104976000-104977200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104976000-104987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:104976200-104976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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