Variant report

Variant	rs60351248
Chromosome Location	chr12:104900636-104900637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:
2	chr12:104892344..104895135-chr12:104897977..104900926,3	MCF-7	breast:
3	chr12:104889682..104892508-chr12:104899984..104902053,3	K562	blood:
4	chr12:104894805..104896698-chr12:104899476..104901179,2	K562	blood:
5	chr12:104898659..104900807-chr12:104906286..104908978,3	K562	blood:
6	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:
7	chr12:104897087..104900788-chr12:104905207..104908076,3	MCF-7	breast:
8	chr12:104899181..104901734-chr12:104930308..104932411,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11608669	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609491	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035663	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882494	0.89[ASN][1000 genomes]
rs2141855	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141856	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536299	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778791	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56020814	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138293	0.89[ASN][1000 genomes]
rs57525859	0.89[ASN][1000 genomes]
rs7970489	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972097	0.89[ASN][1000 genomes]
rs7972201	0.89[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:104892600-104900800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
6	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:104895600-104901200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:104895600-104901400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:104895600-104904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:104897000-104901600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:104897200-104901200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:104897600-104901800	Enhancers	Fetal Heart	heart
15	chr12:104897600-104903600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:104897600-104903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:104897800-104901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:104898000-104901000	Enhancers	Gastric	stomach
20	chr12:104898000-104901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:104898000-104903200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:104898200-104900800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:104898200-104901400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:104898400-104900800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:104898400-104901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104898400-104905000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:104898800-104905200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:104898800-104905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:104899400-104901200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:104899400-104901600	Weak transcription	K562	blood
31	chr12:104899600-104901800	Enhancers	Fetal Brain Female	brain
32	chr12:104899600-104903600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:104899600-104903800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:104899600-104904000	Weak transcription	A549	lung
35	chr12:104899800-104900800	Enhancers	GM12878-XiMat	blood
36	chr12:104899800-104901800	Enhancers	Pancreas	Pancrea
37	chr12:104899800-104904000	Weak transcription	HSMMtube	muscle
38	chr12:104899800-104904000	Weak transcription	HUVEC	blood vessel
39	chr12:104900000-104901000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:104900000-104901600	Genic enhancers	Fetal Thymus	thymus
41	chr12:104900000-104902200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:104900000-104902200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:104900000-104903000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104900000-104903600	Weak transcription	Brain Anterior Caudate	brain
45	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:104900200-104900800	Enhancers	Aorta	Aorta
47	chr12:104900200-104900800	Enhancers	Brain Substantia Nigra	brain
48	chr12:104900200-104901000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:104900200-104901000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:104900200-104901000	Enhancers	Lung	lung

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