Variant report

Variant	rs194781
Chromosome Location	chr14:69190069-69190070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69186631..69190079-chr14:69260120..69263014,4	K562	blood:
2	chr14:69189213..69193249-chr14:69249817..69253831,4	MCF-7	breast:
3	chr14:69189805..69191508-chr14:69201329..69204109,2	K562	blood:
4	chr14:69182928..69185621-chr14:69189406..69191992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000207089	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1034485	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11158760	0.94[CEU][hapmap]
rs168964	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757282	1.00[JPT][hapmap]
rs194763	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs194773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381336	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383721	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs387618	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs404539	0.83[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs405329	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs407929	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408608	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409633	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412016	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs440489	1.00[ASW][hapmap];0.94[CEU][hapmap];0.96[GIH][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs444883	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573856	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs735292	1.00[JPT][hapmap]
rs9323519	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs957258	0.82[ASW][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs194781	FAM71D	cis	parietal	SCAN
rs194781	MPP5	cis	cerebellum	SCAN
rs194781	SNORD56B	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69173600-69194200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:69173600-69196400	Weak transcription	Right Ventricle	heart
3	chr14:69181000-69191400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:69181000-69195200	Weak transcription	Spleen	Spleen
5	chr14:69182000-69202600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:69182200-69191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:69187000-69194200	Weak transcription	HUVEC	blood vessel
8	chr14:69187400-69200000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:69187600-69192400	Enhancers	Fetal Intestine Small	intestine
10	chr14:69187800-69192600	Weak transcription	K562	blood
11	chr14:69187800-69199400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:69188400-69190400	Enhancers	HepG2	liver
13	chr14:69188400-69193000	Enhancers	Fetal Intestine Large	intestine
14	chr14:69188600-69190200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:69188600-69191400	Enhancers	Duodenum Mucosa	Duodenum
16	chr14:69188600-69191800	Enhancers	Ovary	ovary
17	chr14:69188600-69194400	Weak transcription	Fetal Stomach	stomach
18	chr14:69189200-69190800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:69189200-69191200	Enhancers	Fetal Kidney	kidney
20	chr14:69189800-69191000	Enhancers	Small Intestine	intestine
21	chr14:69189800-69194600	Weak transcription	Adipose Nuclei	Adipose
22	chr14:69189800-69196200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:69190000-69190200	Enhancers	Liver	Liver
24	chr14:69190000-69190600	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:69190000-69194600	Weak transcription	Left Ventricle	heart
26	chr14:69190000-69194600	Weak transcription	Pancreas	Pancrea
27	chr14:69190000-69194800	Weak transcription	Fetal Heart	heart

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