Variant report

Variant	rs242093
Chromosome Location	chr14:69481343-69481344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444426..69446976-chr14:69479738..69482578,2	MCF-7	breast:
2	chr14:69480474..69483155-chr14:69487373..69489941,2	MCF-7	breast:
3	chr14:69479524..69481423-chr14:69483176..69484948,2	K562	blood:
4	chr14:69444869..69447830-chr14:69479738..69482436,3	MCF-7	breast:
5	chr14:69472049..69474054-chr14:69481057..69482617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10220411	1.00[CHB][hapmap]
rs12432480	1.00[CHB][hapmap]
rs1275202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1400194	1.00[CHB][hapmap]
rs761898	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs242093	RAD51L1	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
3	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:69478400-69482000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:69479000-69482000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:69479200-69481800	Enhancers	Primary B cells from cord blood	blood
7	chr14:69479400-69481400	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:69479400-69482000	Enhancers	Fetal Intestine Small	intestine
9	chr14:69479600-69481400	Enhancers	Fetal Stomach	stomach
10	chr14:69479600-69482000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:69479600-69482000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:69479600-69482000	Enhancers	Lung	lung
13	chr14:69480200-69481400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:69480200-69481400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:69480200-69482000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:69480400-69481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:69480400-69481600	Enhancers	Placenta	Placenta
18	chr14:69480400-69481600	Enhancers	A549	lung
19	chr14:69480400-69481800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:69480400-69481800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:69480400-69481800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:69480400-69481800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:69480400-69481800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr14:69480400-69481800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:69480400-69481800	Enhancers	Fetal Intestine Large	intestine
26	chr14:69480400-69481800	Enhancers	Small Intestine	intestine
27	chr14:69480400-69482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:69480400-69482000	Enhancers	Fetal Lung	lung
29	chr14:69480400-69482000	Enhancers	HUVEC	blood vessel
30	chr14:69480600-69481400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:69480600-69481400	Enhancers	Stomach Mucosa	stomach
32	chr14:69480600-69481600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr14:69480600-69481800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:69480600-69481800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:69480600-69481800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:69480600-69481800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:69480600-69481800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:69480600-69481800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:69480600-69481800	Flanking Active TSS	HepG2	liver
40	chr14:69480600-69482000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:69480600-69482000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:69480600-69482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:69480600-69482000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:69480600-69482000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:69480600-69482000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:69480800-69481400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69480800-69481600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:69480800-69481600	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:69480800-69481600	Enhancers	Hela-S3	cervix
50	chr14:69480800-69481800	Enhancers	Colonic Mucosa	Colon

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