Variant report

Variant	rs6726403
Chromosome Location	chr2:37321568-37321569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37319900..37322876-chr2:37323309..37325791,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10177315	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194972	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892180	1.00[ASN][1000 genomes]
rs11894496	1.00[ASN][1000 genomes]
rs13388882	1.00[ASN][1000 genomes]
rs13425846	1.00[ASN][1000 genomes]
rs2307472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2307474	1.00[ASN][1000 genomes]
rs2307483	1.00[CHB][hapmap]
rs2372443	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373114	1.00[CHB][hapmap]
rs2373188	1.00[ASN][1000 genomes]
rs2706807	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2706808	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3856498	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233920	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648156	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648158	1.00[ASN][1000 genomes]
rs4648160	1.00[ASN][1000 genomes]
rs4648166	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648169	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648170	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648171	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648190	1.00[ASN][1000 genomes]
rs4648191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648196	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648202	1.00[CHB][hapmap]
rs4648212	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648216	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648218	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648219	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648234	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648237	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679447	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939105	1.00[ASN][1000 genomes]
rs62621388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544053	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6544054	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544055	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544056	0.86[EUR][1000 genomes]
rs6720519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735749	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6738111	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6740307	1.00[ASN][1000 genomes]
rs6758981	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7568925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582985	0.82[EUR][1000 genomes]
rs7590377	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759668	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs759669	1.00[ASN][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6726403	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
3	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
10	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
11	chr2:37313400-37328000	Weak transcription	Hela-S3	cervix
12	chr2:37313400-37330800	Weak transcription	NHEK	skin
13	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:37314000-37324400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:37314200-37329200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:37314400-37329400	Strong transcription	Fetal Thymus	thymus
18	chr2:37314400-37330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:37314800-37325200	Strong transcription	Osteobl	bone
22	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:37315200-37329000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:37315200-37329200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:37315400-37322200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:37315600-37322400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:37315600-37322600	Strong transcription	Left Ventricle	heart
29	chr2:37315600-37324600	Strong transcription	Brain Germinal Matrix	brain
30	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:37315800-37322200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:37315800-37322800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr2:37315800-37326000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:37315800-37328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:37315800-37341400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:37316000-37323600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:37316000-37324800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:37316000-37331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:37316600-37330400	Strong transcription	Liver	Liver
42	chr2:37316800-37324400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:37316800-37330200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:37317000-37324200	Strong transcription	HUVEC	blood vessel
45	chr2:37317400-37327200	Weak transcription	Esophagus	oesophagus
46	chr2:37317400-37334200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:37317600-37323800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:37317600-37326200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:37317600-37327800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:37318200-37322400	Weak transcription	NHDF-Ad	bronchial

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