Variant report

Variant	rs553215317
Chromosome Location	chr19:39283722-39283723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
11	nsv9721	chr19:39281857-39287128	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39279800-39291600	Weak transcription	Stomach Mucosa	stomach
2	chr19:39282200-39291600	Weak transcription	Brain Anterior Caudate	brain
3	chr19:39282800-39283800	Enhancers	Primary B cells from cord blood	blood
4	chr19:39282800-39283800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:39282800-39284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:39283000-39283800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr19:39283000-39283800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:39283000-39283800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr19:39283000-39283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:39283000-39283800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:39283000-39283800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:39283000-39283800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:39283000-39283800	Flanking Active TSS	Esophagus	oesophagus
14	chr19:39283000-39283800	Bivalent Enhancer	Fetal Brain Male	brain
15	chr19:39283000-39283800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:39283000-39283800	Active TSS	Rectal Smooth Muscle	rectum
17	chr19:39283000-39283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr19:39283000-39284000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:39283000-39284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:39283000-39284000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr19:39283000-39284200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:39283000-39284200	Enhancers	HUVEC	blood vessel
23	chr19:39283000-39284600	Enhancers	Spleen	Spleen
24	chr19:39283200-39283800	Enhancers	Colon Smooth Muscle	Colon
25	chr19:39283200-39283800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr19:39283200-39284000	Flanking Active TSS	NHEK	skin
27	chr19:39283200-39284200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:39283200-39284200	Enhancers	HepG2	liver
29	chr19:39283200-39284800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:39283200-39305600	Weak transcription	Brain Angular Gyrus	brain
31	chr19:39283200-39305600	Weak transcription	Brain Substantia Nigra	brain
32	chr19:39283400-39283800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:39283400-39283800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr19:39283400-39283800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:39283400-39283800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:39283400-39283800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr19:39283400-39284000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr19:39283400-39284000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:39283400-39284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:39283400-39284000	Enhancers	A549	lung
41	chr19:39283400-39284200	Enhancers	HSMM	muscle
42	chr19:39283400-39284400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr19:39283400-39289600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:39283400-39291400	Weak transcription	Liver	Liver
45	chr19:39283400-39291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:39283400-39294000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:39283400-39294000	Weak transcription	Pancreas	Pancrea
48	chr19:39283600-39283800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:39283600-39283800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:39283600-39283800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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