Variant report

Variant	rs12042824
Chromosome Location	chr1:67375206-67375207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:67375055-67375482	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:67374136..67376779-chr1:67384902..67386423,2	K562	blood:
2	chr1:67374324..67377212-chr1:67396474..67398489,3	K562	blood:
3	chr1:67369227..67371783-chr1:67374860..67376638,2	K562	blood:
4	chr1:67351495..67353743-chr1:67373492..67375346,2	K562	blood:

Variant related genes	Relation type
WDR78	TF binding region
ENSG00000198160	Chromatin interaction
ENSG00000152763	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1118392	1.00[CHB][hapmap]
rs11208979	1.00[CHB][hapmap]
rs1137656	1.00[CHB][hapmap]
rs12036898	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12041926	1.00[CHB][hapmap]
rs12048585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131222	1.00[CHB][hapmap]
rs12137403	1.00[CHB][hapmap]
rs17497828	1.00[CHB][hapmap]
rs1925408	1.00[CHB][hapmap]
rs1925411	1.00[CHB][hapmap]
rs1925413	1.00[CHB][hapmap]
rs2025608	1.00[CHB][hapmap]
rs2065000	1.00[CHB][hapmap]
rs2065001	1.00[CHB][hapmap]
rs2182143	1.00[CHB][hapmap]
rs2755244	1.00[CHB][hapmap]
rs2755245	1.00[CHB][hapmap]
rs2755246	1.00[CHB][hapmap]
rs2755250	1.00[CHB][hapmap]
rs2755256	1.00[CHB][hapmap]
rs2815351	1.00[CHB][hapmap]
rs2815359	1.00[CHB][hapmap]
rs2815361	1.00[CHB][hapmap]
rs2815370	1.00[CHB][hapmap]
rs2815371	1.00[CHB][hapmap]
rs2985795	1.00[CHB][hapmap]
rs2985797	1.00[CHB][hapmap]
rs2985818	1.00[CHB][hapmap]
rs2985821	1.00[CHB][hapmap]
rs2985822	1.00[CHB][hapmap]
rs2985824	1.00[CHB][hapmap]
rs2985825	1.00[CHB][hapmap]
rs2985826	1.00[CHB][hapmap]
rs3008848	1.00[CHB][hapmap]
rs3008853	1.00[CHB][hapmap]
rs3008854	1.00[CHB][hapmap]
rs3008855	1.00[CHB][hapmap]
rs3008858	1.00[CHB][hapmap]
rs3008871	1.00[CHB][hapmap]
rs3008873	1.00[CHB][hapmap]
rs3008892	1.00[CHB][hapmap]
rs4620509	1.00[CHB][hapmap]
rs4655658	1.00[CHB][hapmap]
rs4655663	1.00[CHB][hapmap]
rs6673462	1.00[CHB][hapmap]
rs912797	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv871738	chr1:67268642-67375206	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv871259	chr1:67275027-67375206	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:13 , 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

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