Variant report

Variant	rs1146601
Chromosome Location	chr1:76238986-76238987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76237665..76239915-chr1:76250102..76252794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1021463	1.00[EUR][1000 genomes]
rs1068884	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146585	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146599	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs1250879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	1.00[EUR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699689	1.00[EUR][1000 genomes]
rs699823	1.00[EUR][1000 genomes]
rs699826	1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:76227800-76239600	Weak transcription	GM12878-XiMat	blood
3	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:76234000-76241000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:76234600-76241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:76238000-76241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:76238200-76241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:76238200-76241400	Weak transcription	NHEK	skin

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