Variant report

Variant	rs11675947
Chromosome Location	chr2:48750053-48750054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10195717	0.86[CEU][hapmap]
rs11674217	1.00[CEU][hapmap]
rs11674683	1.00[AFR][1000 genomes]
rs11677350	1.00[AFR][1000 genomes]
rs11678934	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11679685	0.91[AMR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11683202	0.82[CEU][hapmap]
rs11683444	0.84[EUR][1000 genomes]
rs11687461	0.86[CEU][hapmap]
rs11687498	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11687771	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes]
rs11688465	1.00[AFR][1000 genomes]
rs11689285	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11689288	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11690526	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11692537	1.00[CEU][hapmap]
rs11693784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes]
rs13398456	0.86[CEU][hapmap]
rs17325698	1.00[AFR][1000 genomes]
rs17397449	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs17397707	1.00[AFR][1000 genomes]
rs2937	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34026270	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34542838	0.87[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7570877	0.90[EUR][1000 genomes]

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	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11675947	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48728200-48756800	Weak transcription	HMEC	breast
5	chr2:48732200-48751400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
7	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:48737200-48750600	Strong transcription	Fetal Intestine Large	intestine
11	chr2:48737600-48750200	Strong transcription	Primary T cells from cord blood	blood
12	chr2:48737800-48752000	Strong transcription	Fetal Intestine Small	intestine
13	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:48738000-48755400	Weak transcription	HUVEC	blood vessel
15	chr2:48738000-48756800	Weak transcription	NH-A	brain
16	chr2:48738200-48753800	Weak transcription	Hela-S3	cervix
17	chr2:48740000-48754400	Weak transcription	NHLF	lung
18	chr2:48740000-48756000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:48741000-48753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:48742400-48756200	Weak transcription	NHDF-Ad	bronchial
22	chr2:48743000-48754600	Weak transcription	Fetal Kidney	kidney
23	chr2:48743200-48756000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:48743200-48756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
26	chr2:48743400-48753000	Weak transcription	Fetal Heart	heart
27	chr2:48743400-48753000	Weak transcription	Right Ventricle	heart
28	chr2:48743400-48756200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:48743400-48757400	Weak transcription	Gastric	stomach
32	chr2:48743800-48752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:48744000-48752400	Weak transcription	K562	blood
34	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
36	chr2:48744600-48752800	Weak transcription	Pancreas	Pancrea
37	chr2:48744600-48753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:48744600-48754800	Weak transcription	HSMMtube	muscle
39	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:48744800-48755800	Weak transcription	HepG2	liver
41	chr2:48744800-48756200	Weak transcription	Fetal Brain Female	brain
42	chr2:48745200-48756200	Weak transcription	Esophagus	oesophagus
43	chr2:48745600-48752800	Weak transcription	Left Ventricle	heart
44	chr2:48745600-48753000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:48745600-48755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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