Variant report

Variant	rs10749766
Chromosome Location	chr1:67376921-67376922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67376441..67378103-chr1:67389443..67391844,2	K562	blood:
2	chr1:67374324..67377212-chr1:67396474..67398489,3	K562	blood:
3	chr1:67366082..67368708-chr1:67375984..67378961,2	K562	blood:
4	chr1:67372987..67375149-chr1:67375633..67379902,4	K562	blood:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction
ENSG00000152763	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10789219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889651	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1118392	0.91[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs11208971	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208973	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208974	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208979	0.90[JPT][hapmap]
rs1121824	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041926	0.90[JPT][hapmap]
rs12044278	0.92[JPT][hapmap]
rs12131222	0.92[JPT][hapmap]
rs12137403	0.90[JPT][hapmap]
rs12562761	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12742428	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs1570838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497828	0.90[JPT][hapmap]
rs1925408	0.90[JPT][hapmap]
rs1925409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925411	0.92[JPT][hapmap]
rs1925413	0.92[JPT][hapmap]
rs2025608	0.92[JPT][hapmap]
rs2065000	0.92[JPT][hapmap]
rs2065001	0.90[JPT][hapmap]
rs2065002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2182143	0.90[JPT][hapmap]
rs2755241	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755243	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755244	0.90[JPT][hapmap]
rs2755245	0.90[JPT][hapmap]
rs2755246	0.90[JPT][hapmap]
rs2755250	0.92[JPT][hapmap]
rs2755251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2755253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2755254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755256	0.82[JPT][hapmap]
rs2755266	0.87[EUR][1000 genomes]
rs2755270	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815351	0.90[JPT][hapmap]
rs2815355	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815359	0.90[JPT][hapmap]
rs2815360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2815361	0.90[JPT][hapmap]
rs2815362	0.82[EUR][1000 genomes]
rs2815363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2815364	0.82[EUR][1000 genomes]
rs2815365	0.82[EUR][1000 genomes]
rs2815366	0.82[EUR][1000 genomes]
rs2815367	0.82[EUR][1000 genomes]
rs2815368	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2815370	0.90[JPT][hapmap]
rs2815371	0.90[JPT][hapmap]
rs2985795	0.92[JPT][hapmap]
rs2985797	0.90[JPT][hapmap]
rs2985818	0.90[JPT][hapmap]
rs2985821	0.92[JPT][hapmap]
rs2985822	0.90[JPT][hapmap]
rs2985824	0.90[JPT][hapmap]
rs2985825	0.90[JPT][hapmap]
rs2985826	0.92[JPT][hapmap]
rs3008848	0.90[JPT][hapmap]
rs3008853	0.92[JPT][hapmap]
rs3008854	0.92[JPT][hapmap]
rs3008855	0.90[JPT][hapmap]
rs3008858	0.92[JPT][hapmap]
rs3008871	0.81[JPT][hapmap]
rs3008892	0.90[JPT][hapmap]
rs3736905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3929738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486425	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4570393	0.88[EUR][1000 genomes]
rs4581250	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4582760	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4620509	0.92[JPT][hapmap]
rs4655658	0.92[JPT][hapmap]
rs4655660	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655661	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655663	0.90[JPT][hapmap]
rs6657065	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673462	0.92[JPT][hapmap]
rs912797	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3448405	chr1:67360980-67393830	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10749766	MIER1	Cis_1M	lymphoblastoid	RTeQTL
rs10749766	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
3	chr1:67352800-67385600	Weak transcription	Ovary	ovary
4	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:67364000-67382000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:67364000-67385800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:67364000-67389000	Weak transcription	Osteobl	bone
8	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
9	chr1:67365000-67383200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:67367800-67385400	Weak transcription	Fetal Stomach	stomach
12	chr1:67369600-67385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:67374800-67377000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:67376400-67377200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr1:67376600-67377200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:67376600-67377200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:67376800-67377200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr1:67376800-67377400	Enhancers	HUES64 Cell Line	embryonic stem cell

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