Variant report

Variant	rs194756
Chromosome Location	chr14:69214504-69214505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69212433..69215414-chr14:69260940..69263889,2	MCF-7	breast:
2	chr14:69213485..69215775-chr14:69249988..69251772,2	K562	blood:
3	chr14:69210895..69217826-chr14:69255953..69264501,15	K562	blood:
4	chr14:69196700..69198365-chr14:69213161..69215430,2	K562	blood:
5	chr14:69212479..69217981-chr14:69255953..69262357,9	K562	blood:
6	chr14:69206368..69210602-chr14:69212379..69216516,4	K562	blood:
7	chr14:69206574..69210602-chr14:69211879..69218026,8	K562	blood:
8	chr14:69214304..69216670-chr14:69253517..69255895,2	K562	blood:
9	chr14:69183888..69188009-chr14:69213725..69217312,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs168963	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs194757	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs52701	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747854	0.85[CHD][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194756	RAD51L1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69201200-69222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:69204200-69219200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:69205600-69216200	Weak transcription	Lung	lung
5	chr14:69212600-69215400	Weak transcription	Right Ventricle	heart
6	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:69213800-69214600	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:69213800-69214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:69213800-69214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:69213800-69215600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:69213800-69216600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69213800-69216800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:69213800-69217000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69213800-69217000	Enhancers	Fetal Muscle Leg	muscle
15	chr14:69213800-69217000	Enhancers	Placenta	Placenta
16	chr14:69213800-69217200	Enhancers	Esophagus	oesophagus
17	chr14:69213800-69217200	Enhancers	Fetal Heart	heart
18	chr14:69213800-69217400	Enhancers	HepG2	liver
19	chr14:69213800-69217400	Enhancers	K562	blood
20	chr14:69213800-69217800	Enhancers	Colon Smooth Muscle	Colon
21	chr14:69214000-69214600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:69214000-69214800	Enhancers	Fetal Lung	lung
23	chr14:69214000-69215200	Weak transcription	Pancreas	Pancrea
24	chr14:69214000-69215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:69214400-69215000	Weak transcription	Spleen	Spleen
26	chr14:69214400-69215200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:69214400-69215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:69214400-69215600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:69214400-69215600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:69214400-69215800	Weak transcription	Fetal Kidney	kidney
31	chr14:69214400-69221000	Weak transcription	Right Atrium	heart

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