Variant report

Variant	rs1128752
Chromosome Location	chr1:161070042-161070043
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161013722..161017299-chr1:161066199..161071039,5	MCF-7	breast:
2	chr1:161066775..161076749-chr1:161082263..161091955,20	K562	blood:
3	chr1:161064725..161068388-chr1:161069127..161071844,3	MCF-7	breast:
4	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
5	chr1:161066559..161072259-chr1:161099379..161104380,9	MCF-7	breast:
6	chr1:160989661..160992673-chr1:161067559..161070388,3	K562	blood:
7	chr1:161067611..161071505-chr1:161085937..161088891,3	MCF-7	breast:
8	chr1:161012196..161017661-chr1:161066183..161070852,8	MCF-7	breast:
9	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:
10	chr1:161067105..161072149-chr1:161083038..161089689,9	MCF-7	breast:
11	chr1:160989661..160992673-chr1:161066595..161070388,4	K562	blood:
12	chr1:161007801..161009697-chr1:161067796..161070375,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224985	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158796	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11576415	1.00[JPT][hapmap]
rs12027719	1.00[JPT][hapmap]
rs12077004	1.00[JPT][hapmap]
rs12094497	1.00[JPT][hapmap]
rs2301288	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1128752	RBFOX2	trans	lymphoblastoid	seeQTL
rs1128752	HAND1	trans	lymphoblastoid	seeQTL
rs1128752	CCDC85A	trans	lymphoblastoid	seeQTL
rs1128752	FAM171B	trans	lymphoblastoid	seeQTL
rs1128752	DPPA4	trans	lymphoblastoid	seeQTL
rs1128752	NELL2	trans	lymphoblastoid	seeQTL
rs1128752	COL5A2	trans	lymphoblastoid	seeQTL
rs1128752	SPRR2A	trans	lymphoblastoid	seeQTL
rs1128752	NEBL	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161068400-161081800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:161068600-161071200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:161068600-161081200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:161068800-161070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:161068800-161070200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:161068800-161070600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:161068800-161071200	Weak transcription	Gastric	stomach
8	chr1:161068800-161071400	Weak transcription	Aorta	Aorta
9	chr1:161068800-161071400	Weak transcription	Ovary	ovary
10	chr1:161068800-161071400	Weak transcription	Psoas Muscle	Psoas
11	chr1:161068800-161071800	Weak transcription	NHLF	lung
12	chr1:161068800-161085200	Weak transcription	Right Atrium	heart
13	chr1:161068800-161085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:161068800-161087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:161069000-161070200	Strong transcription	A549	lung
16	chr1:161069000-161070400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:161069000-161070800	Weak transcription	Fetal Kidney	kidney
18	chr1:161069000-161071000	Genic enhancers	Fetal Muscle Leg	muscle
19	chr1:161069000-161071200	Weak transcription	Colonic Mucosa	Colon
20	chr1:161069000-161071200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:161069000-161071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:161069000-161071400	Weak transcription	Fetal Brain Male	brain
23	chr1:161069000-161072200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr1:161069000-161072200	Strong transcription	Right Ventricle	heart
25	chr1:161069000-161072200	Strong transcription	Thymus	Thymus
26	chr1:161069000-161072400	Strong transcription	Primary T cells from cord blood	blood
27	chr1:161069000-161072400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:161069000-161072400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:161069000-161072400	Strong transcription	HSMMtube	muscle
30	chr1:161069000-161073000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:161069000-161073400	Strong transcription	Placenta	Placenta
32	chr1:161069000-161074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161069000-161076400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:161069000-161083600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:161069000-161085200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:161069000-161086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:161069200-161070600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:161069200-161070600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:161069200-161071200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:161069200-161071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:161069200-161071400	Weak transcription	Brain Angular Gyrus	brain
42	chr1:161069200-161071400	Weak transcription	Fetal Heart	heart
43	chr1:161069200-161071400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:161069200-161071600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:161069200-161072000	Genic enhancers	Adipose Nuclei	Adipose
46	chr1:161069200-161072200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:161069200-161072200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:161069200-161072400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:161069200-161072400	Strong transcription	Fetal Intestine Large	intestine
50	chr1:161069200-161072600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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