Variant report

Variant	rs1308049
Chromosome Location	chr1:154327797-154327798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154326234..154328532-chr1:154330997..154333513,2	MCF-7	breast:
2	chr1:154321971..154324545-chr1:154326207..154328422,3	MCF-7	breast:
3	chr1:154325453..154327893-chr1:154424368..154426017,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1194591	0.91[AMR][1000 genomes]
rs1817688	0.81[AMR][1000 genomes]
rs4845369	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55649582	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154325400-154328200	Enhancers	Hela-S3	cervix
2	chr1:154325800-154327800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:154325800-154328400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:154325800-154328400	Enhancers	Stomach Mucosa	stomach
5	chr1:154326000-154331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:154326200-154328000	Enhancers	K562	blood
7	chr1:154326200-154328200	Weak transcription	Spleen	Spleen
8	chr1:154326200-154328400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:154326200-154334200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:154326400-154328600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:154326600-154328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:154326600-154328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:154326800-154328000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:154326800-154328600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:154326800-154329200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:154326800-154360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:154327000-154328800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:154327000-154329000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:154327200-154328400	Weak transcription	Gastric	stomach
20	chr1:154327200-154328600	Weak transcription	Fetal Thymus	thymus
21	chr1:154327200-154328800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:154327400-154327800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:154327400-154329200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:154327400-154331200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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