Variant report

Variant	rs1379280
Chromosome Location	chr19:35585103-35585104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35581708..35583305-chr19:35584116..35585715,2	MCF-7	breast:
2	chr19:35583635..35586288-chr19:35626706..35628411,2	MCF-7	breast:
3	chr19:35577004..35579582-chr19:35584935..35587139,2	K562	blood:
4	chr1:156426961..156427745-chr19:35584961..35585461,2	Hela-S3	cervix:
5	chr19:35576238..35588046-chr19:35602523..35611687,25	MCF-7	breast:
6	chr19:35582815..35587098-chr19:35604847..35609330,8	MCF-7	breast:
7	chr19:35580355..35585602-chr19:35613550..35616986,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1673003	0.91[CHB][hapmap]
rs17718894	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv911611	chr19:35483679-35589920	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv911612	chr19:35501051-35602498	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
5	nsv525108	chr19:35577870-35589920	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35581800-35586800	Weak transcription	HepG2	liver
2	chr19:35582000-35589800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35582200-35585600	Enhancers	Stomach Mucosa	stomach
4	chr19:35582200-35586800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:35582200-35586800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:35582200-35586800	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:35582200-35586800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:35582200-35586800	Weak transcription	Fetal Thymus	thymus
9	chr19:35582200-35587000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:35582200-35591600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:35582200-35605600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:35582400-35586600	Weak transcription	HMEC	breast
13	chr19:35582400-35586800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:35582400-35586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:35582400-35587000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:35582400-35591600	Weak transcription	Brain Anterior Caudate	brain
17	chr19:35582600-35585200	Enhancers	Pancreas	Pancrea
18	chr19:35582600-35586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:35582600-35601600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:35583600-35586800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:35584000-35585400	Weak transcription	Fetal Intestine Small	intestine
22	chr19:35584000-35586600	Weak transcription	NHEK	skin
23	chr19:35584000-35586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:35584200-35586200	Enhancers	Fetal Intestine Large	intestine
25	chr19:35584600-35585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:35584600-35585800	Enhancers	Esophagus	oesophagus
27	chr19:35584600-35586200	Enhancers	Placenta	Placenta
28	chr19:35584600-35586800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:35584600-35586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:35584800-35585200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:35584800-35585600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:35585000-35586800	Weak transcription	K562	blood

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