Variant report

Variant	rs2842339
Chromosome Location	chr14:68986999-68987000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68985509..68988121-chr14:69256458..69258080,2	MCF-7	breast:
2	chr14:68720614..68722595-chr14:68984911..68987836,2	MCF-7	breast:
3	chr14:68938741..68940567-chr14:68984751..68988855,3	MCF-7	breast:
4	chr14:68933643..68938139-chr14:68984805..68987652,4	MCF-7	breast:
5	chr14:68985786..68987686-chr14:69260916..69262958,2	MCF-7	breast:
6	chr14:68763749..68766581-chr14:68985695..68988216,2	MCF-7	breast:
7	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10130177	1.00[CHB][hapmap]
rs10134240	1.00[CHB][hapmap]
rs10137367	1.00[CHB][hapmap]
rs10147979	1.00[CHB][hapmap]
rs10148391	1.00[CHB][hapmap]
rs10483810	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10483811	1.00[CHB][hapmap]
rs10483814	1.00[CHB][hapmap]
rs11849344	1.00[CHB][hapmap]
rs17105810	1.00[CHB][hapmap]
rs17105812	1.00[CHB][hapmap]
rs17105828	1.00[CHB][hapmap]
rs17105829	1.00[CHB][hapmap]
rs17829180	1.00[CHB][hapmap]
rs17829192	1.00[CHB][hapmap]
rs2525513	0.82[AFR][1000 genomes]
rs2842343	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2842344	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs57947677	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61985769	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985771	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985772	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017678	1.00[CHB][hapmap]
rs9323515	1.00[CHB][hapmap]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
2	chr14:68977600-68988400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:68983000-68987000	Enhancers	Adipose Nuclei	Adipose
4	chr14:68983600-68991200	Enhancers	NHEK	skin
5	chr14:68983800-68987400	Enhancers	Fetal Kidney	kidney
6	chr14:68983800-68991600	Enhancers	Fetal Muscle Leg	muscle
7	chr14:68983800-68991800	Enhancers	Fetal Stomach	stomach
8	chr14:68984000-68987400	Enhancers	Primary T cells from cord blood	blood
9	chr14:68984200-68987000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:68984200-68990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:68984200-68991200	Enhancers	Fetal Heart	heart
12	chr14:68984200-68991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:68984400-68987000	Enhancers	Pancreas	Pancrea
14	chr14:68984600-68987000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:68984600-68989600	Enhancers	Stomach Mucosa	stomach
16	chr14:68984600-68989800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:68984600-68990200	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:68984600-68990200	Enhancers	Fetal Intestine Large	intestine
19	chr14:68984600-68990600	Enhancers	Fetal Intestine Small	intestine
20	chr14:68984600-68991400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:68984600-68991600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:68984600-68991800	Enhancers	Placenta	Placenta
23	chr14:68984800-68987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:68984800-68989600	Enhancers	HMEC	breast
25	chr14:68984800-68989800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:68985000-68987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:68985000-68988800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:68985200-68989000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:68985200-68989400	Weak transcription	Spleen	Spleen
30	chr14:68985400-68987000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:68985400-68987000	Enhancers	HSMM	muscle
32	chr14:68985400-68987400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:68985400-68989800	Enhancers	HSMMtube	muscle
34	chr14:68985600-68987400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:68985600-68987600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr14:68985600-68987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:68985600-68987800	Enhancers	Liver	Liver
38	chr14:68985600-68987800	Enhancers	HepG2	liver
39	chr14:68985600-68988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:68985600-68988600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:68985800-68987000	Enhancers	Primary B cells from cord blood	blood
42	chr14:68985800-68987000	Enhancers	Thymus	Thymus
43	chr14:68985800-68987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:68985800-68988600	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
46	chr14:68986000-68987200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:68986000-68987400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:68986000-68987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:68986000-68987800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:68986000-68989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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