Variant report

Variant	rs2302347
Chromosome Location	chr6:30587613-30587614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30587518-30587660	K562	blood:	n/a	n/a
2	POLR2A	chr6:30587257-30587728	SK-N-MC	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
2	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
3	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
4	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
5	chr6:30581322..30587794-chr6:30705649..30714068,32	K562	blood:
6	chr6:30586081..30587970-chr6:30654610..30657338,2	MCF-7	breast:
7	chr6:26155518..26157248-chr6:30585019..30587976,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222894	TF binding region
PPP1R10	TF binding region
ENSG00000137312	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16867845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195411	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17195474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195544	0.86[AFR][1000 genomes]
rs2106069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270172	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2394387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2394389	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3815101	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3888777	0.83[AMR][1000 genomes]
rs4148247	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57626358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58423891	0.94[ASN][1000 genomes]
rs59272830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59607822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60081418	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60365864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60399658	0.88[ASN][1000 genomes]
rs61733213	0.88[ASN][1000 genomes]
rs6457246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899862	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927727	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6934466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773711	0.88[ASN][1000 genomes]
rs9262120	1.00[ASN][1000 genomes]
rs9468812	0.88[ASN][1000 genomes]
rs9468821	0.82[ASN][1000 genomes]
rs9468822	0.82[ASN][1000 genomes]
rs9468823	0.82[ASN][1000 genomes]
rs9500865	0.82[ASN][1000 genomes]
rs9671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2302347	MRPS18B	cis	lymphoblastoid	seeQTL
rs2302347	PRR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30586200-30588800	Weak transcription	Small Intestine	intestine
2	chr6:30586400-30588000	Weak transcription	Lung	lung
3	chr6:30586400-30590000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30586400-30592000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30586400-30592600	Weak transcription	Aorta	Aorta
6	chr6:30586400-30594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:30586600-30588600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:30586600-30590000	Weak transcription	Colonic Mucosa	Colon
10	chr6:30586600-30590000	Weak transcription	Right Ventricle	heart
11	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
12	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:30586800-30587800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:30586800-30588200	Weak transcription	HMEC	breast
15	chr6:30586800-30590000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:30586800-30590000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:30586800-30590200	Weak transcription	HUVEC	blood vessel
18	chr6:30586800-30590400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:30587000-30587800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:30587000-30587800	Genic enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:30587000-30589000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:30587000-30589400	Strong transcription	HSMM	muscle
24	chr6:30587000-30589600	Weak transcription	Fetal Brain Male	brain
25	chr6:30587000-30591400	Strong transcription	NHDF-Ad	bronchial
26	chr6:30587000-30593600	Strong transcription	Fetal Muscle Leg	muscle
27	chr6:30587000-30594000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:30587000-30594000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:30587000-30594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:30587000-30594000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:30587000-30594000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30587000-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:30587000-30594200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:30587000-30594200	Strong transcription	Osteobl	bone
35	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:30587200-30587800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr6:30587200-30587800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:30587200-30587800	Genic enhancers	Hela-S3	cervix
39	chr6:30587200-30587800	Strong transcription	NH-A	brain
40	chr6:30587200-30589400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:30587200-30590800	Strong transcription	NHEK	skin
42	chr6:30587200-30591000	Strong transcription	Fetal Kidney	kidney
43	chr6:30587200-30592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:30587200-30593400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:30587200-30593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:30587200-30593800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:30587200-30593800	Strong transcription	HSMMtube	muscle
48	chr6:30587200-30594000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:30587200-30594000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:30587200-30594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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