Variant report

Variant	rs6702739
Chromosome Location	chr1:197179032-197179033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197169953..197172580-chr1:197177266..197179766,2	K562	blood:
2	chr1:197169683..197171827-chr1:197178266..197181117,3	K562	blood:
3	chr1:197170135..197172615-chr1:197178382..197179910,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1034162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10429911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10494749	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10494750	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10494751	1.00[ASN][1000 genomes]
rs10732295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10732296	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801594	1.00[CHB][hapmap]
rs11800461	1.00[ASN][1000 genomes]
rs11801772	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11808524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11808883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11809963	1.00[ASN][1000 genomes]
rs11811295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1412631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1415217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1537318	0.81[YRI][hapmap]
rs1556763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1571964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841212	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841219	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841220	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841237	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17514584	1.00[AMR][1000 genomes]
rs17514591	1.00[AMR][1000 genomes]
rs17514606	1.00[AMR][1000 genomes]
rs17514732	1.00[AMR][1000 genomes]
rs17514781	1.00[AMR][1000 genomes]
rs17514795	1.00[AMR][1000 genomes]
rs17514802	1.00[AMR][1000 genomes]
rs17514816	1.00[AMR][1000 genomes]
rs17549514	1.00[AMR][1000 genomes]
rs17549540	1.00[AMR][1000 genomes]
rs17549547	1.00[AMR][1000 genomes]
rs17549582	1.00[AMR][1000 genomes]
rs17549596	1.00[AMR][1000 genomes]
rs17549657	1.00[AMR][1000 genomes]
rs17549671	1.00[AMR][1000 genomes]
rs17549818	1.00[AMR][1000 genomes]
rs17549859	1.00[AMR][1000 genomes]
rs17549873	1.00[AMR][1000 genomes]
rs1759013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1794003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35897746	1.00[AMR][1000 genomes]
rs4915378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56660423	1.00[AMR][1000 genomes]
rs56912014	1.00[AMR][1000 genomes]
rs59560396	1.00[AMR][1000 genomes]
rs59820773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5999	1.00[AMR][1000 genomes]
rs6000	1.00[AMR][1000 genomes]
rs60769813	1.00[AMR][1000 genomes]
rs61117530	1.00[AMR][1000 genomes]
rs61172533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61249253	1.00[AMR][1000 genomes]
rs61264948	1.00[AMR][1000 genomes]
rs61278057	1.00[AMR][1000 genomes]
rs62624968	1.00[AMR][1000 genomes]
rs6428388	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6669374	1.00[AMR][1000 genomes]
rs6669388	1.00[AMR][1000 genomes]
rs6675840	1.00[AMR][1000 genomes]
rs6677082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6700604	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6702338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6703400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7513644	1.00[AMR][1000 genomes]
rs7520405	1.00[AMR][1000 genomes]
rs7520503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7528827	1.00[AMR][1000 genomes]
rs7534439	1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7535048	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535814	1.00[AMR][1000 genomes]
rs7543584	1.00[AMR][1000 genomes]
rs7545831	1.00[AMR][1000 genomes]
rs7554881	1.00[AMR][1000 genomes]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197171600-197181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197171600-197181800	Weak transcription	Ovary	ovary
3	chr1:197171800-197179600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:197171800-197181400	Weak transcription	Fetal Heart	heart
5	chr1:197172200-197181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:197176800-197181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:197177800-197180200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:197177800-197183200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:197178600-197180400	Weak transcription	Primary T cells from cord blood	blood

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