Variant report

Variant	rs250438
Chromosome Location	chr5:14688417-14688418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14684890..14686885-chr5:14687284..14690002,2	K562	blood:
2	chr5:14663633..14666342-chr5:14685335..14688986,4	K562	blood:
3	chr5:14686254..14688718-chr5:14716713..14719728,4	MCF-7	breast:
4	chr5:14687877..14689834-chr5:14695338..14697923,3	K562	blood:
5	chr5:14683758..14686068-chr5:14687921..14690777,3	K562	blood:

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10038397	0.95[EUR][1000 genomes]
rs10065032	0.96[EUR][1000 genomes]
rs10078863	0.88[EUR][1000 genomes]
rs17363158	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17364066	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3045	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs31929	0.92[YRI][hapmap]
rs58936946	0.93[EUR][1000 genomes]
rs59980057	0.90[EUR][1000 genomes]
rs60501770	0.96[EUR][1000 genomes]
rs6884420	0.96[EUR][1000 genomes]
rs6886163	0.96[EUR][1000 genomes]
rs6892588	1.00[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs89356	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs9885040	0.90[EUR][1000 genomes]

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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250438	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
2	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
3	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
5	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:14676800-14690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:14677000-14695200	Strong transcription	K562	blood
10	chr5:14677600-14689800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:14677600-14705600	Strong transcription	Dnd41	blood
12	chr5:14677800-14704000	Strong transcription	HepG2	liver
13	chr5:14678000-14689800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:14678000-14690200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:14678000-14690200	Strong transcription	Primary B cells from cord blood	blood
16	chr5:14678200-14689200	Strong transcription	Fetal Intestine Small	intestine
17	chr5:14678200-14690400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:14678200-14690400	Strong transcription	Fetal Stomach	stomach
19	chr5:14678600-14704200	Strong transcription	Fetal Thymus	thymus
20	chr5:14679200-14689600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:14686000-14690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:14686200-14690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:14686200-14690200	Weak transcription	Psoas Muscle	Psoas
25	chr5:14686200-14690400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:14686400-14700800	Strong transcription	Primary T cells from cord blood	blood
27	chr5:14686600-14689800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr5:14686600-14689800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:14686600-14690200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:14686600-14690200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr5:14686600-14690400	Strong transcription	NH-A	brain
32	chr5:14686600-14695000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:14686600-14695600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:14686800-14689200	Strong transcription	Small Intestine	intestine
35	chr5:14686800-14689600	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:14686800-14689800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:14686800-14690000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:14686800-14690000	Strong transcription	Thymus	Thymus
39	chr5:14686800-14690200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:14686800-14690200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:14686800-14690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:14686800-14690200	Strong transcription	Fetal Lung	lung
43	chr5:14686800-14690200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:14686800-14690200	Strong transcription	A549	lung
45	chr5:14686800-14690400	Strong transcription	NHDF-Ad	bronchial
46	chr5:14686800-14694400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:14686800-14694600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:14686800-14698800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:14686800-14699200	Strong transcription	Osteobl	bone
50	chr5:14686800-14704200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links