Variant report

Variant	rs1274726
Chromosome Location	chr12:49501398-49501399
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49499760..49506124-chr12:49657415..49661017,8	K562	blood:
2	chr12:49497954..49506685-chr12:49522695..49526444,13	MCF-7	breast:
3	chr12:49497683..49501522-chr12:49502793..49506157,6	MCF-7	breast:
4	chr12:49500412..49506796-chr12:49520694..49526646,13	MCF-7	breast:
5	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:
6	chr12:49481573..49488751-chr12:49501255..49506032,14	K562	blood:
7	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
8	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
9	chr12:49494225..49496227-chr12:49501193..49504636,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10783302	0.89[CEU][hapmap];0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs11168862	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1274726	MLL2	cis	brain	BrainEAC
rs1274726	RHEBL1	cis	parietal	SCAN
rs1274726	TFCP2	cis	parietal	SCAN
rs1274726	MCRS1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49489400-49501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:49489600-49502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:49489800-49502000	Strong transcription	Fetal Stomach	stomach
4	chr12:49490000-49503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:49490400-49501400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:49490400-49501600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:49490400-49501800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:49491200-49501400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:49492800-49501600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:49493800-49501400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr12:49495000-49501400	Strong transcription	NHLF	lung
12	chr12:49496000-49502600	Weak transcription	Stomach Mucosa	stomach
13	chr12:49496600-49501600	Genic enhancers	Right Ventricle	heart
14	chr12:49497000-49501800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:49497800-49501400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:49497800-49501800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr12:49498200-49501600	Enhancers	Right Atrium	heart
18	chr12:49498200-49502600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:49498200-49502600	Weak transcription	NHDF-Ad	bronchial
20	chr12:49498400-49502600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:49498400-49502600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:49498600-49501400	Genic enhancers	Colon Smooth Muscle	Colon
23	chr12:49498600-49502800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:49498800-49502600	Weak transcription	Fetal Kidney	kidney
25	chr12:49498800-49502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:49498800-49503000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49499000-49502400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:49499000-49502800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:49499400-49501600	Genic enhancers	Fetal Intestine Small	intestine
30	chr12:49499600-49501400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:49499600-49501800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:49499600-49502400	Weak transcription	Hela-S3	cervix
33	chr12:49499800-49501400	Genic enhancers	Fetal Intestine Large	intestine
34	chr12:49499800-49501600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:49499800-49502400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:49499800-49502600	Enhancers	Fetal Brain Male	brain
37	chr12:49499800-49502600	Weak transcription	HMEC	breast
38	chr12:49499800-49503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:49500000-49501600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:49500000-49502400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:49500000-49502600	Weak transcription	NH-A	brain
42	chr12:49500000-49502600	Weak transcription	Osteobl	bone
43	chr12:49500200-49501600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr12:49500200-49501600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:49500200-49501600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:49500200-49501600	Strong transcription	NHEK	skin
47	chr12:49500400-49501400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:49500400-49501600	Enhancers	Psoas Muscle	Psoas
49	chr12:49500400-49502400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:49500400-49502600	Weak transcription	A549	lung

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