Variant report

Variant	rs6693615
Chromosome Location	chr1:45180125-45180126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
2	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
3	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
4	chr1:45179541..45182471-chr1:45202409..45206528,4	MCF-7	breast:
5	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
6	chr1:45178003..45180723-chr1:45284633..45286676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117425	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10127448	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10890314	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211030	0.80[EUR][1000 genomes]
rs11801067	0.81[EUR][1000 genomes]
rs4529751	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6671255	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9429055	0.88[ASN][1000 genomes]
rs9988580	0.81[ASN][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45169200-45180600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:45172200-45180600	Weak transcription	Right Atrium	heart
3	chr1:45174000-45180400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:45174200-45180600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:45174400-45180600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:45174400-45180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:45174400-45183000	Weak transcription	NHLF	lung
8	chr1:45174400-45190400	Weak transcription	Lung	lung
9	chr1:45174600-45180600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:45174600-45180600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:45177400-45182000	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:45178000-45181600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:45178200-45181800	Weak transcription	Fetal Brain Male	brain
14	chr1:45178400-45181200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:45179000-45182000	Enhancers	Primary B cells from cord blood	blood
16	chr1:45179400-45180400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:45179400-45180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:45179400-45180600	Weak transcription	NHEK	skin
19	chr1:45179400-45180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:45179600-45180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:45179600-45180600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:45179600-45180600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:45179600-45180600	Weak transcription	HMEC	breast
24	chr1:45179600-45180800	Enhancers	GM12878-XiMat	blood
25	chr1:45179600-45181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:45179600-45183800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:45179800-45180200	Weak transcription	Hela-S3	cervix
28	chr1:45179800-45180200	Weak transcription	HepG2	liver

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