Variant report

Variant	rs1513870
Chromosome Location	chr2:177716131-177716132
allele	A/G
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	EBF1	chr2:177715942-177716189	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177709383..177714584-chr2:177715247..177719528,6	K562	blood:
2	chr2:177711466..177713806-chr2:177714846..177717263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227098	TF binding region
ENSG00000227098	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10186950	0.82[ASN][1000 genomes]
rs10930765	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930766	0.82[ASN][1000 genomes]
rs10930767	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930772	0.82[ASN][1000 genomes]
rs12469347	1.00[JPT][hapmap]
rs12612709	0.82[ASN][1000 genomes]
rs12616782	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13005005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13421731	1.00[JPT][hapmap]
rs13422461	0.82[ASN][1000 genomes]
rs1355845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355854	0.91[ASN][1000 genomes]
rs1398967	0.91[ASN][1000 genomes]
rs1398969	0.91[ASN][1000 genomes]
rs1398977	0.91[ASN][1000 genomes]
rs1405614	0.91[ASN][1000 genomes]
rs1527265	0.82[ASN][1000 genomes]
rs1527266	0.82[ASN][1000 genomes]
rs16864610	0.80[YRI][hapmap]
rs16864736	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17628074	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17679370	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1814826	0.84[ASN][1000 genomes]
rs1866134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2196658	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696966	0.82[ASN][1000 genomes]
rs4894207	0.91[ASN][1000 genomes]
rs61177850	0.91[ASN][1000 genomes]
rs6433618	0.91[ASN][1000 genomes]
rs6433624	0.82[ASN][1000 genomes]
rs6707899	1.00[JPT][hapmap]
rs6710025	0.82[ASN][1000 genomes]
rs6760271	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7562938	0.91[ASN][1000 genomes]
rs7583729	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7588841	1.00[JPT][hapmap]
rs840698	1.00[JPT][hapmap]
rs840699	1.00[JPT][hapmap]
rs840706	0.84[ASN][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	nsv459953	chr2:177704321-177720675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv583687	chr2:177704321-177720675	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv3050	chr2:177713430-177760533	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1513870	ZAK	cis	cerebellum	SCAN
rs1513870	NFE2L2	cis	parietal	SCAN
rs1513870	OLA1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177710000-177716800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:177710800-177716600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:177712200-177717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:177712600-177716200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:177712600-177716600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:177712600-177717200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:177712600-177717200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:177712800-177716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:177712800-177716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:177715200-177716600	Weak transcription	Thymus	Thymus
11	chr2:177715400-177716600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:177715400-177717600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:177715600-177716800	Enhancers	Fetal Kidney	kidney
14	chr2:177715600-177717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:177715600-177718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:177715800-177717600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:177715800-177722800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:177716000-177717400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:177716000-177717400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:177716000-177717800	Enhancers	Brain Germinal Matrix	brain

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