Variant report

Variant	rs11687851
Chromosome Location	chr2:48579786-48579787
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
2	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11674317	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11675947	1.00[AFR][1000 genomes]
rs11676925	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11677205	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11678934	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11679685	0.83[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11687276	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687401	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11687461	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17325209	0.81[EUR][1000 genomes]
rs17397094	1.00[AFR][1000 genomes]
rs17397449	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28505584	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7573281	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7584796	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs952468	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11687851	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48569000-48580000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
3	chr2:48571600-48580000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:48572400-48580000	Weak transcription	Stomach Mucosa	stomach
6	chr2:48573400-48583200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48573600-48604000	Weak transcription	Ovary	ovary
8	chr2:48574200-48581000	Genic enhancers	HepG2	liver
9	chr2:48574200-48602000	Weak transcription	Gastric	stomach
10	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
11	chr2:48574800-48589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:48574800-48589600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:48576200-48579800	Weak transcription	NH-A	brain
14	chr2:48576200-48580000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:48576200-48580400	Weak transcription	Left Ventricle	heart
16	chr2:48576200-48583800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:48576200-48602000	Weak transcription	Lung	lung
19	chr2:48576400-48579800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:48576400-48579800	Weak transcription	Hela-S3	cervix
21	chr2:48576400-48580200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:48576400-48583800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:48576400-48590000	Weak transcription	Placenta	Placenta
24	chr2:48576600-48581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
26	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:48577000-48579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:48577000-48580200	Weak transcription	Fetal Lung	lung
29	chr2:48577000-48580400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:48577000-48580800	Enhancers	Brain Anterior Caudate	brain
31	chr2:48577000-48581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:48577000-48583800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:48577200-48580200	Enhancers	Brain Substantia Nigra	brain
34	chr2:48577200-48581600	Enhancers	Brain Hippocampus Middle	brain
35	chr2:48577600-48579800	Strong transcription	K562	blood
36	chr2:48577600-48580000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:48577600-48581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:48577600-48584200	Weak transcription	Thymus	Thymus
39	chr2:48577600-48589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:48577600-48589600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:48577800-48579800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:48577800-48592400	Weak transcription	Right Atrium	heart
43	chr2:48577800-48602000	Weak transcription	Fetal Kidney	kidney
44	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:48578000-48579800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:48578000-48580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:48578000-48580000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:48578000-48580400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:48578200-48579800	Weak transcription	HSMM	muscle
50	chr2:48578200-48584400	Weak transcription	Fetal Thymus	thymus

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