Variant report

Variant	rs573057999
Chromosome Location	chr19:39277943-39277944
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	chr19:39277481..39279141-chr19:39336896..39339737,2	K562	blood:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39265600-39283000	Weak transcription	Spleen	Spleen
2	chr19:39274200-39279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:39275600-39279000	Weak transcription	HepG2	liver
4	chr19:39275600-39279200	Weak transcription	Fetal Intestine Small	intestine
5	chr19:39275600-39279200	Weak transcription	Stomach Mucosa	stomach
6	chr19:39276200-39279000	Weak transcription	Fetal Intestine Large	intestine
7	chr19:39276200-39283000	Weak transcription	Pancreas	Pancrea
8	chr19:39276800-39278200	Enhancers	HMEC	breast
9	chr19:39277000-39278000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:39277200-39278000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr19:39277200-39283200	Weak transcription	NH-A	brain
12	chr19:39277400-39278000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:39277400-39278200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:39277600-39278000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:39277600-39278000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:39277600-39278200	Enhancers	Esophagus	oesophagus
17	chr19:39277600-39278200	Enhancers	NHEK	skin
18	chr19:39277600-39279400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:39277800-39278000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:39277800-39278000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr19:39277800-39278200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:39277800-39278800	Weak transcription	Fetal Thymus	thymus
23	chr19:39277800-39278800	Weak transcription	A549	lung
24	chr19:39277800-39279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:39277800-39279200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:39277800-39282800	Weak transcription	Placenta	Placenta
27	chr19:39277800-39283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:39277800-39283000	Weak transcription	Right Ventricle	heart

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