Variant report

Variant	rs7546851
Chromosome Location	chr1:114484796-114484797
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114354172..114356370-chr1:114484184..114487053,3	MCF-7	breast:
2	chr1:114483759..114485680-chr1:114489982..114493578,3	K562	blood:
3	chr1:114355068..114356721-chr1:114483796..114485570,2	MCF-7	breast:
4	chr1:114470896..114474252-chr1:114484369..114489117,6	K562	blood:

Variant related genes	Relation type
ENSG00000235527	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10108	0.94[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10494162	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494163	0.81[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap]
rs11102703	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11102706	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102707	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102708	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060750	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125546	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12129050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217444	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1503832	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553449	1.00[ASN][1000 genomes]
rs1553450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17852555	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1910485	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985435	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985436	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302825	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537800	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669370	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6674384	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7364	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs74111914	0.80[AFR][1000 genomes]
rs7519860	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7545300	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs756493	0.91[ASN][1000 genomes]
rs878129	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7546851	DCLRE1B	cis	lesional skin	skin_eQTL
rs7546851	DCLRE1B	cis	normal skin	skin_eQTL
rs7546851	DCLRE1B	cis	multi-tissue	Pritchard
rs7546851	DCLRE1B	cis	uninvolved skin	skin_eQTL
rs7546851	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:114474200-114489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:114474800-114488600	Weak transcription	Stomach Mucosa	stomach
4	chr1:114475400-114485600	Weak transcription	Fetal Brain Male	brain
5	chr1:114475400-114485600	Weak transcription	A549	lung
6	chr1:114477000-114488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:114479000-114517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:114480400-114488600	Weak transcription	Small Intestine	intestine
9	chr1:114482400-114486200	Strong transcription	Hela-S3	cervix
10	chr1:114482600-114487000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:114482600-114488200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:114482800-114486200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:114482800-114486400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:114483000-114485000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:114483000-114485000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:114483000-114485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:114483000-114485000	Strong transcription	Fetal Intestine Small	intestine
18	chr1:114483000-114485000	Strong transcription	Fetal Stomach	stomach
19	chr1:114483000-114485000	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:114483000-114485200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:114483000-114485800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:114483000-114486600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:114483000-114486600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:114483000-114486600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:114483000-114486600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:114483000-114487800	Strong transcription	Fetal Intestine Large	intestine
27	chr1:114483000-114488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:114483000-114488400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:114483200-114485000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:114483200-114485000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:114483200-114485000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:114483200-114485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:114483200-114486200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:114483200-114486200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:114483200-114486400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:114483200-114486400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:114483200-114486400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:114483200-114486600	Strong transcription	HSMM	muscle
39	chr1:114483200-114486800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:114483200-114487600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:114483400-114485000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:114483400-114485000	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr1:114483400-114485000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:114483400-114485000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:114483400-114485200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:114483400-114486600	Strong transcription	Fetal Lung	lung
47	chr1:114483400-114488200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:114483600-114485000	Strong transcription	Lung	lung
49	chr1:114483600-114485000	Strong transcription	Dnd41	blood
50	chr1:114483600-114485200	Strong transcription	Primary B cells from cord blood	blood

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