Variant report

Variant	rs1348387
Chromosome Location	chr9:100693717-100693718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100693503..100695720-chr9:100740992..100742797,2	MCF-7	breast:
2	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
3	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:

Variant related genes	Relation type
ENSG00000236896	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10115216	1.00[YRI][hapmap]
rs10512255	1.00[YRI][hapmap]
rs10512256	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059003	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739526	1.00[YRI][hapmap]
rs10760011	1.00[YRI][hapmap]
rs10983892	0.82[EUR][1000 genomes]
rs10983893	0.82[EUR][1000 genomes]
rs10983896	0.82[EUR][1000 genomes]
rs10984009	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10984098	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10984253	1.00[YRI][hapmap]
rs10984377	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984516	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984522	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984532	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984545	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12004762	1.00[YRI][hapmap]
rs12006522	1.00[YRI][hapmap]
rs12156487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375612	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376113	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13295123	0.82[EUR][1000 genomes]
rs1561957	1.00[YRI][hapmap]
rs17687621	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs1947015	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120262	1.00[YRI][hapmap]
rs3808893	1.00[YRI][hapmap]
rs3824495	1.00[YRI][hapmap]
rs4514106	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4742708	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4743144	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4743149	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55978521	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027221	1.00[YRI][hapmap]
rs7031386	1.00[YRI][hapmap]
rs7032302	0.82[EUR][1000 genomes]
rs7034336	1.00[YRI][hapmap]
rs7036589	1.00[YRI][hapmap]
rs7037172	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038998	1.00[YRI][hapmap]
rs7043516	0.93[CEU][hapmap]
rs7048255	1.00[YRI][hapmap]
rs72753506	0.82[EUR][1000 genomes]
rs72753508	0.82[EUR][1000 genomes]
rs72753537	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72753557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753579	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753581	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753588	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851498	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7854948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299258	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100690600-100693800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr9:100690600-100694600	Transcr. at gene 5' and 3'	K562	blood
3	chr9:100690800-100694600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr9:100691400-100695400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:100691800-100693800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:100692200-100694400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:100692200-100695000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr9:100692800-100693800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr9:100692800-100694000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:100693000-100693800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr9:100693200-100693800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr9:100693200-100693800	Flanking Active TSS	Dnd41	blood
13	chr9:100693200-100694000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:100693200-100694400	Enhancers	Fetal Thymus	thymus
15	chr9:100693400-100693800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:100693400-100693800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr9:100693400-100700400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr9:100693600-100693800	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr9:100693600-100693800	Flanking Active TSS	Thymus	Thymus
20	chr9:100693600-100694200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr9:100693600-100694800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr9:100693600-100696200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links