Variant report

Variant	rs62121416
Chromosome Location	chr19:39281109-39281110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39280801-39282835	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:39281082-39283039	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39278557..39281313-chr19:39305805..39307829,2	MCF-7	breast:

Variant related genes	Relation type
LGALS7B	TF binding region
ENSG00000104823	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv911671	chr19:39252238-39306425	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1063592	chr19:39257977-39287265	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv9720	chr19:39277331-39283376	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv1058132	chr19:39279522-39302843	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv963045	chr19:39280546-39283148	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39265600-39283000	Weak transcription	Spleen	Spleen
2	chr19:39276200-39283000	Weak transcription	Pancreas	Pancrea
3	chr19:39277200-39283200	Weak transcription	NH-A	brain
4	chr19:39277800-39282800	Weak transcription	Placenta	Placenta
5	chr19:39277800-39283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:39277800-39283000	Weak transcription	Right Ventricle	heart
7	chr19:39278000-39283000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:39279000-39283400	Weak transcription	HSMM	muscle
9	chr19:39279400-39283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:39279600-39281400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:39279600-39281800	Weak transcription	Fetal Intestine Large	intestine
12	chr19:39279600-39281800	Weak transcription	Fetal Intestine Small	intestine
13	chr19:39279600-39281800	Weak transcription	Fetal Thymus	thymus
14	chr19:39279600-39282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:39279600-39282800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:39279600-39283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:39279600-39283000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:39279600-39283200	Weak transcription	HepG2	liver
19	chr19:39279600-39283400	Weak transcription	A549	lung
20	chr19:39279800-39281800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:39279800-39282800	Weak transcription	Fetal Muscle Leg	muscle
22	chr19:39279800-39282800	Weak transcription	HMEC	breast
23	chr19:39279800-39283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:39279800-39291600	Weak transcription	Stomach Mucosa	stomach
25	chr19:39280800-39281600	Active TSS	Esophagus	oesophagus
26	chr19:39281000-39281400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:39281000-39281600	Active TSS	NHEK	skin

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