Variant report

Variant	rs6911630
Chromosome Location	chr6:44118911-44118912
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44116110..44119401-chr6:44222719..44226168,3	MCF-7	breast:
2	chr6:44117525..44119749-chr6:44162549..44165761,3	K562	blood:
3	chr6:44118511..44121325-chr6:44203702..44206845,3	K562	blood:
4	chr6:44118243..44122722-chr6:44213509..44216822,7	K562	blood:
5	chr6:44093185..44096453-chr6:44116790..44121295,7	MCF-7	breast:
6	chr6:44116712..44124292-chr6:44220837..44227181,13	K562	blood:
7	chr6:44117895..44119429-chr6:44199152..44201920,2	K562	blood:
8	chr6:44066542..44068074-chr6:44118017..44119691,2	MCF-7	breast:
9	chr5:133706361..133708033-chr6:44118347..44120356,2	K562	blood:
10	chr6:44098943..44101929-chr6:44117025..44119826,2	MCF-7	breast:
11	chr6:44109933..44111723-chr6:44118302..44120001,2	MCF-7	breast:
12	chr6:44113768..44117098-chr6:44117855..44119857,3	MCF-7	breast:
13	chr6:44117982..44119936-chr6:44124617..44126321,2	MCF-7	breast:
14	chr6:44117363..44120323-chr6:44194006..44196819,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119048	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000273345	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000006837	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000265700	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1041523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734695	0.82[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs4711769	0.82[ASN][1000 genomes]
rs4714757	0.97[ASN][1000 genomes]
rs4714758	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4714760	0.83[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6458370	0.99[ASN][1000 genomes]
rs6934989	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296427	0.99[ASN][1000 genomes]
rs9369458	0.82[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs9394987	0.90[ASN][1000 genomes]

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6911630	MRPL14	Cis_1M	lymphoblastoid	RTeQTL
rs6911630	LOC221442	cis	cerebellum	SCAN
rs6911630	MRPL14	cis	cerebellum	SCAN
rs6911630	TMEM63B	cis	cerebellum	SCAN
rs6911630	MRPL14	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
2	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
3	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
12	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr6:44103600-44119400	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
18	chr6:44106800-44119400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:44107200-44119000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:44108600-44122600	Weak transcription	A549	lung
21	chr6:44109200-44119200	Weak transcription	Stomach Mucosa	stomach
22	chr6:44109800-44124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:44111000-44121000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr6:44112200-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:44113200-44119000	Strong transcription	Esophagus	oesophagus
26	chr6:44113200-44119200	Strong transcription	Placenta	Placenta
27	chr6:44113200-44119200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:44113200-44122400	Strong transcription	Fetal Brain Female	brain
29	chr6:44113200-44122400	Strong transcription	NHEK	skin
30	chr6:44113400-44119200	Strong transcription	Brain Germinal Matrix	brain
31	chr6:44113400-44122400	Strong transcription	NHLF	lung
32	chr6:44113600-44119200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:44113600-44119400	Strong transcription	HepG2	liver
34	chr6:44113600-44122600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:44113800-44119000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:44114000-44119600	Weak transcription	Fetal Brain Male	brain
37	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
38	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:44114200-44129200	Weak transcription	NH-A	brain
40	chr6:44114600-44119200	Strong transcription	K562	blood
41	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
42	chr6:44115600-44119200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:44115600-44119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:44115600-44128400	Weak transcription	Dnd41	blood
45	chr6:44116600-44119400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:44116800-44119000	Weak transcription	Fetal Kidney	kidney
47	chr6:44116800-44120400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr6:44117000-44119200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:44117200-44119400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:44117200-44120200	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links