Variant report

Variant	rs60527991
Chromosome Location	chr2:48583991-48583992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
2	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:
3	chr2:48583541..48585248-chr2:48599640..48601828,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11125169	0.95[EUR][1000 genomes]
rs11125170	0.95[EUR][1000 genomes]
rs17037291	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17325488	0.89[EUR][1000 genomes]
rs28439229	0.82[AFR][1000 genomes]
rs57729372	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61062762	0.95[EUR][1000 genomes]
rs62137000	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62137013	0.95[EUR][1000 genomes]
rs62138810	0.83[AMR][1000 genomes]
rs62138817	0.85[AMR][1000 genomes]
rs6737455	0.82[AFR][1000 genomes]
rs72887686	0.82[AFR][1000 genomes]
rs7563625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7576648	0.82[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
rs60527991	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	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48573600-48604000	Weak transcription	Ovary	ovary
4	chr2:48574200-48602000	Weak transcription	Gastric	stomach
5	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
6	chr2:48574800-48589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48574800-48589600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:48576200-48602000	Weak transcription	Lung	lung
10	chr2:48576400-48590000	Weak transcription	Placenta	Placenta
11	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
12	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:48577600-48584200	Weak transcription	Thymus	Thymus
14	chr2:48577600-48589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:48577600-48589600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:48577800-48592400	Weak transcription	Right Atrium	heart
17	chr2:48577800-48602000	Weak transcription	Fetal Kidney	kidney
18	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:48578200-48584400	Weak transcription	Fetal Thymus	thymus
20	chr2:48578600-48584600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:48578600-48591000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:48578800-48585000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:48578800-48585000	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:48578800-48589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:48578800-48589600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:48579000-48586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:48579000-48589400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:48579000-48595000	Weak transcription	Esophagus	oesophagus
30	chr2:48579000-48595000	Weak transcription	Fetal Stomach	stomach
31	chr2:48579200-48584200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:48579200-48593000	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:48579200-48595400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:48579400-48589800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:48580200-48584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:48580400-48585600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:48580400-48595200	Weak transcription	HSMMtube	muscle
38	chr2:48580600-48584000	Weak transcription	K562	blood
39	chr2:48580600-48585200	Weak transcription	A549	lung
40	chr2:48580600-48587600	Weak transcription	HSMM	muscle
41	chr2:48580600-48588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:48580600-48601800	Weak transcription	Hela-S3	cervix
43	chr2:48580800-48584200	Weak transcription	Fetal Lung	lung
44	chr2:48580800-48589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:48580800-48591800	Weak transcription	NH-A	brain
46	chr2:48580800-48599800	Weak transcription	NHEK	skin
47	chr2:48580800-48602000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:48580800-48602000	Weak transcription	Osteobl	bone
49	chr2:48580800-48604000	Weak transcription	Aorta	Aorta
50	chr2:48581000-48584000	Weak transcription	HepG2	liver

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