Variant report

Variant	rs1001070
Chromosome Location	chr1:78518432-78518433
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78467898..78473745-chr1:78517606..78523860,12	K562	blood:
2	chr1:78468015..78471675-chr1:78515077..78519749,8	K562	blood:
3	chr1:78516143..78520503-chr1:78521696..78523741,3	K562	blood:
4	chr1:78518422..78519997-chr1:78524033..78526694,2	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1001103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001104	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437022	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10873960	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10873963	0.84[AMR][1000 genomes]
rs11162400	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11162403	0.85[AMR][1000 genomes]
rs1166697	0.82[AMR][1000 genomes]
rs1166702	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1166709	1.00[YRI][hapmap]
rs11807240	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12405212	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12409561	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs1335481	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1555798	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17382996	1.00[CEU][hapmap]
rs17383213	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17387365	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1855704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971368	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2136682	0.83[AMR][1000 genomes]
rs2274257	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2296453	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3767028	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4370803	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4372306	0.85[AMR][1000 genomes]
rs4631748	0.84[AMR][1000 genomes]
rs4949828	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4949829	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs5001389	1.00[ASN][1000 genomes]
rs504388	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568497	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs591448	0.82[YRI][hapmap]
rs628451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633580	0.83[YRI][hapmap]
rs638335	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6424640	0.83[AMR][1000 genomes]
rs6424650	0.88[AMR][1000 genomes]
rs6424660	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424666	0.81[AMR][1000 genomes]
rs6424668	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs661038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662330	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs664818	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656888	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes]
rs6677890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684579	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750720	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7514007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531525	0.81[AMR][1000 genomes]
rs7538210	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9324166	0.82[AMR][1000 genomes]
rs9659938	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs9730688	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78512600-78519800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:78513000-78521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:78513200-78518600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:78513200-78520600	Weak transcription	Pancreas	Pancrea
5	chr1:78513600-78521200	Weak transcription	Stomach Mucosa	stomach
6	chr1:78513800-78520000	Weak transcription	HSMM	muscle
7	chr1:78514400-78519200	Weak transcription	Small Intestine	intestine
8	chr1:78515200-78519600	Weak transcription	HSMMtube	muscle
9	chr1:78515400-78518600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:78515400-78518800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:78515400-78521200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:78515400-78534200	Weak transcription	HepG2	liver
13	chr1:78515800-78518800	Weak transcription	Left Ventricle	heart
14	chr1:78516000-78518800	Weak transcription	Right Ventricle	heart
15	chr1:78517400-78519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:78517400-78522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:78517600-78519200	Enhancers	Liver	Liver
18	chr1:78517600-78519600	Enhancers	HUVEC	blood vessel
19	chr1:78517600-78519800	Enhancers	Psoas Muscle	Psoas
20	chr1:78517800-78519000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:78517800-78521200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:78518000-78518600	Weak transcription	Spleen	Spleen
23	chr1:78518200-78519000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:78518400-78518600	Enhancers	Fetal Intestine Large	intestine
25	chr1:78518400-78518800	Flanking Active TSS	K562	blood
26	chr1:78518400-78519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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