Variant report

Variant	rs62000689
Chromosome Location	chr14:39805545-39805546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39803770..39806205-chr14:39819657..39822349,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10142724	0.80[AMR][1000 genomes]
rs10148141	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149896	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17109118	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274397	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28718785	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28776502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4328353	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4636812	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902520	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902542	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56126634	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61398943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61998555	0.81[ASN][1000 genomes]
rs62000665	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62000717	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571920	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148572	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159130	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72675418	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8016293	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018486	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8019758	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022515	0.93[AFR][1000 genomes];0.94[EUR][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
10	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
14	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
15	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
17	chr14:39786800-39808000	Weak transcription	K562	blood
18	chr14:39786800-39823000	Strong transcription	Liver	Liver
19	chr14:39789400-39809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:39792600-39813800	Weak transcription	NHDF-Ad	bronchial
21	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
23	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
24	chr14:39796000-39810200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39796400-39817800	Weak transcription	HSMMtube	muscle
26	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:39796600-39806600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:39796800-39808000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:39796800-39811800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
31	chr14:39797200-39815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:39797600-39816000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:39799000-39810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:39799200-39809800	Strong transcription	Primary T cells from cord blood	blood
35	chr14:39799400-39810800	Strong transcription	HepG2	liver
36	chr14:39799400-39811000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:39799600-39811000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:39799800-39808200	Strong transcription	Fetal Intestine Large	intestine
39	chr14:39800000-39809200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:39800800-39810200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:39800800-39810800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:39801200-39811000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:39801800-39808400	Weak transcription	Fetal Brain Male	brain
44	chr14:39801800-39809400	Strong transcription	Fetal Intestine Small	intestine
45	chr14:39802000-39808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:39802000-39811800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
48	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:39802200-39808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:39802600-39808000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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