Variant report

Variant	rs2842343
Chromosome Location	chr14:68977490-68977491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68933594..68935776-chr14:68976787..68979201,2	MCF-7	breast:
2	chr14:68327398..68330046-chr14:68977112..68979163,2	MCF-7	breast:
3	chr14:68976640..68979821-chr14:69259766..69263690,3	MCF-7	breast:
4	chr14:68963025..68965072-chr14:68977283..68978864,2	K562	blood:
5	chr14:68973167..68978172-chr14:69258473..69260680,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10483810	0.90[CEU][hapmap];0.97[EUR][1000 genomes]
rs2525502	0.83[CHD][hapmap]
rs2842339	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2842344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57947677	1.00[EUR][1000 genomes]
rs59404246	0.97[EUR][1000 genomes]
rs61985769	0.81[EUR][1000 genomes]
rs61985771	1.00[EUR][1000 genomes]
rs61985772	1.00[EUR][1000 genomes]
rs6573841	0.83[CHD][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68967400-68981600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:68967400-68982400	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
4	chr14:68971000-68983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:68971800-68981400	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:68972000-68980200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:68972600-68982000	Enhancers	Fetal Intestine Small	intestine
8	chr14:68973400-68979200	Weak transcription	Right Ventricle	heart
9	chr14:68973400-68981200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:68973400-68985000	Weak transcription	Colonic Mucosa	Colon
11	chr14:68973600-68977600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:68973800-68984600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:68974200-68979800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:68974800-68984600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:68974800-68984800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:68975000-68979200	Weak transcription	Small Intestine	intestine
17	chr14:68975200-68978400	Weak transcription	Primary B cells from cord blood	blood
18	chr14:68975200-68978600	Weak transcription	GM12878-XiMat	blood
19	chr14:68975200-68980000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:68975400-68978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:68975400-68979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:68975400-68979200	Weak transcription	Spleen	Spleen
23	chr14:68975400-68979400	Weak transcription	Thymus	Thymus
24	chr14:68975400-68981600	Enhancers	Fetal Stomach	stomach
25	chr14:68975600-68977800	Enhancers	HSMMtube	muscle
26	chr14:68975600-68979600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:68975600-68979600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:68975600-68979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:68975600-68980200	Enhancers	Ovary	ovary
30	chr14:68975600-68980800	Enhancers	Esophagus	oesophagus
31	chr14:68975800-68977800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:68975800-68978000	Enhancers	Placenta	Placenta
33	chr14:68975800-68979200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:68975800-68979200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:68975800-68980200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:68975800-68980200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:68975800-68980200	Enhancers	NHLF	lung
38	chr14:68975800-68982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:68976000-68978000	Enhancers	Adipose Nuclei	Adipose
40	chr14:68976000-68978200	Enhancers	Fetal Intestine Large	intestine
41	chr14:68976000-68978200	Enhancers	Right Atrium	heart
42	chr14:68976000-68979000	Enhancers	Aorta	Aorta
43	chr14:68976000-68979400	Weak transcription	Primary T cells from cord blood	blood
44	chr14:68976000-68979600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:68976000-68979600	Enhancers	Fetal Heart	heart
46	chr14:68976000-68980200	Enhancers	NHDF-Ad	bronchial
47	chr14:68976000-68980400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:68976000-68981400	Enhancers	Colon Smooth Muscle	Colon
49	chr14:68976000-68981400	Enhancers	Rectal Smooth Muscle	rectum
50	chr14:68976200-68977600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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