Variant report

Variant	rs62137000
Chromosome Location	chr2:48567964-48567965
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120729263..120729953-chr2:48567408..48568402,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11125169	0.83[EUR][1000 genomes]
rs11125170	0.83[EUR][1000 genomes]
rs1509562	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17037255	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17037291	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17397205	0.81[ASN][1000 genomes]
rs28399967	0.88[AFR][1000 genomes]
rs28439229	0.91[AFR][1000 genomes]
rs28485447	0.86[AFR][1000 genomes]
rs28570232	0.82[AFR][1000 genomes]
rs28595126	0.86[AFR][1000 genomes]
rs4547574	0.82[EUR][1000 genomes]
rs56879885	0.85[AFR][1000 genomes]
rs57729372	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60527991	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60743061	0.81[AFR][1000 genomes]
rs61062762	0.83[EUR][1000 genomes]
rs62137013	0.83[EUR][1000 genomes]
rs62138796	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62138798	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62138804	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62138805	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62138808	0.87[EUR][1000 genomes]
rs62138810	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62138815	0.90[ASN][1000 genomes]
rs62138816	0.90[ASN][1000 genomes]
rs62138817	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545025	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545026	0.84[ASN][1000 genomes]
rs6545031	0.88[AFR][1000 genomes]
rs6545033	0.85[AFR][1000 genomes]
rs6737455	0.91[AFR][1000 genomes]
rs6738828	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72820413	1.00[ASN][1000 genomes]
rs72820414	1.00[ASN][1000 genomes]
rs72887650	0.83[AFR][1000 genomes]
rs72887686	0.91[AFR][1000 genomes]
rs7563625	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7576648	0.91[AFR][1000 genomes]
rs7583112	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs959141	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9677579	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62137000	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543400-48568600	Weak transcription	HSMM	muscle
2	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:48544400-48570400	Weak transcription	NHEK	skin
4	chr2:48544400-48570800	Weak transcription	HMEC	breast
5	chr2:48548600-48570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:48552400-48570600	Weak transcription	Aorta	Aorta
7	chr2:48553400-48574400	Weak transcription	Lung	lung
8	chr2:48553800-48570800	Weak transcription	Thymus	Thymus
9	chr2:48554400-48570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:48555400-48570600	Weak transcription	NHLF	lung
11	chr2:48556800-48570600	Weak transcription	Fetal Thymus	thymus
12	chr2:48556800-48571600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:48557000-48573200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:48557000-48573400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:48557200-48568600	Weak transcription	HUVEC	blood vessel
16	chr2:48557800-48570400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:48558200-48568200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:48558400-48571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:48558800-48568400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:48558800-48571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:48559000-48570600	Weak transcription	Left Ventricle	heart
22	chr2:48559000-48570600	Weak transcription	Spleen	Spleen
23	chr2:48559800-48568200	Weak transcription	NHDF-Ad	bronchial
24	chr2:48559800-48570600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:48559800-48570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:48559800-48573400	Weak transcription	Fetal Kidney	kidney
27	chr2:48559800-48573400	Weak transcription	Right Atrium	heart
28	chr2:48560400-48568000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:48560400-48568600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:48560400-48568600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:48560600-48573600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:48561000-48571200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:48561600-48568000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:48561600-48571400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:48561800-48571000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:48562000-48573400	Weak transcription	Psoas Muscle	Psoas
37	chr2:48562000-48573400	Weak transcription	K562	blood
38	chr2:48562200-48568000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:48562200-48568200	Weak transcription	HepG2	liver
40	chr2:48562200-48571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:48562400-48568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:48562800-48568200	Weak transcription	Brain Angular Gyrus	brain
43	chr2:48564800-48574400	Weak transcription	Fetal Stomach	stomach
44	chr2:48565200-48570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:48565200-48570800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:48565600-48568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:48565600-48568600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:48565800-48568200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:48565800-48570600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:48565800-48571800	Weak transcription	Fetal Intestine Small	intestine

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