Variant report

Variant	rs11676078
Chromosome Location	chr2:48670206-48670207
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:48667222-48671944	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
2	chr2:48132531..48135272-chr2:48667743..48670607,2	K562	blood:
3	chr2:47401201..47404315-chr2:48668410..48671549,3	K562	blood:

Variant related genes	Relation type
ENSG00000272663	TF binding region
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10182093	0.92[EUR][1000 genomes]
rs10191938	0.92[EUR][1000 genomes]
rs10195717	0.93[EUR][1000 genomes]
rs10197359	0.93[EUR][1000 genomes]
rs11674217	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11678825	0.83[EUR][1000 genomes]
rs11678934	0.90[EUR][1000 genomes]
rs11679685	0.91[EUR][1000 genomes]
rs11682838	0.82[EUR][1000 genomes]
rs11683202	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686769	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691302	0.83[EUR][1000 genomes]
rs11691407	0.83[EUR][1000 genomes]
rs11692537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11694094	0.83[EUR][1000 genomes]
rs11694955	0.90[EUR][1000 genomes]
rs13398456	0.93[EUR][1000 genomes]
rs17397449	0.84[EUR][1000 genomes]
rs28505584	0.83[EUR][1000 genomes]
rs4364065	0.91[EUR][1000 genomes]
rs72889641	0.93[EUR][1000 genomes]
rs7573281	0.83[EUR][1000 genomes]
rs7584796	0.83[EUR][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11676078	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48670400	Weak transcription	Gastric	stomach
3	chr2:48668800-48671200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:48668800-48671600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:48668800-48672200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:48668800-48672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48668800-48672600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48668800-48672600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:48668800-48672600	Weak transcription	Esophagus	oesophagus
10	chr2:48668800-48672800	Weak transcription	Left Ventricle	heart
11	chr2:48668800-48673000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:48668800-48673600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:48668800-48674200	Weak transcription	Small Intestine	intestine
14	chr2:48668800-48675200	Weak transcription	HSMM	muscle
15	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
17	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:48668800-48682400	Weak transcription	Lung	lung
20	chr2:48669000-48670400	Enhancers	Ovary	ovary
21	chr2:48669000-48671000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:48669000-48671200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:48669000-48672600	Weak transcription	Placenta	Placenta
24	chr2:48669000-48672600	Weak transcription	Right Atrium	heart
25	chr2:48669000-48672800	Enhancers	Liver	Liver
26	chr2:48669000-48673200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:48669000-48673200	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:48669000-48673600	Enhancers	Brain Substantia Nigra	brain
29	chr2:48669000-48675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
31	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
34	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
36	chr2:48669200-48670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:48669200-48670400	Enhancers	Fetal Kidney	kidney
38	chr2:48669200-48670600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:48669200-48671800	Enhancers	K562	blood
40	chr2:48669200-48673600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:48669200-48673600	Enhancers	HepG2	liver
42	chr2:48669200-48674400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
45	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:48669400-48670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:48669400-48670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:48669400-48671000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:48669400-48671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:48669400-48671200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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