Variant report

Variant	rs547226947
Chromosome Location	chr19:39282862-39282863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39263336..39266472-chr19:39281321..39283014,3	K562	blood:

Variant related genes	Relation type
ENSG00000205076	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	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:59 , 50 per page) page: 1 2

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	chr19:39277800-39283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:39277800-39283000	Weak transcription	Right Ventricle	heart
6	chr19:39278000-39283000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:39279000-39283400	Weak transcription	HSMM	muscle
8	chr19:39279400-39283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:39279600-39283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:39279600-39283000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:39279600-39283200	Weak transcription	HepG2	liver
12	chr19:39279600-39283400	Weak transcription	A549	lung
13	chr19:39279800-39283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:39279800-39291600	Weak transcription	Stomach Mucosa	stomach
15	chr19:39281400-39283000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:39281600-39283000	Weak transcription	Esophagus	oesophagus
17	chr19:39281600-39283000	Weak transcription	NHEK	skin
18	chr19:39281800-39283000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:39281800-39283000	Active TSS	Fetal Intestine Large	intestine
20	chr19:39281800-39283000	Active TSS	Fetal Intestine Small	intestine
21	chr19:39281800-39283000	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:39281800-39283200	Active TSS	Duodenum Mucosa	Duodenum
23	chr19:39282000-39283000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:39282200-39283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:39282200-39283000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:39282200-39283000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:39282200-39283000	Weak transcription	Colonic Mucosa	Colon
28	chr19:39282200-39283000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:39282200-39283200	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:39282200-39283200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr19:39282200-39291600	Weak transcription	Brain Anterior Caudate	brain
32	chr19:39282800-39283000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:39282800-39283000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:39282800-39283000	Active TSS	Primary B cells from peripheral blood	blood
35	chr19:39282800-39283000	Weak transcription	Primary T cells from cord blood	blood
36	chr19:39282800-39283000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr19:39282800-39283000	Active TSS	Primary hematopoietic stem cells	blood
38	chr19:39282800-39283000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:39282800-39283000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr19:39282800-39283000	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:39282800-39283000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr19:39282800-39283000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:39282800-39283000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:39282800-39283000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:39282800-39283000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:39282800-39283000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:39282800-39283000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr19:39282800-39283000	Enhancers	Fetal Muscle Leg	muscle
49	chr19:39282800-39283000	Active TSS	Placenta	Placenta
50	chr19:39282800-39283000	Enhancers	Rectal Mucosa Donor 29	rectum

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