Variant report

Variant	rs113918655
Chromosome Location	chr19:39395654-39395655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39388731..39393423-chr19:39394024..39400037,10	K562	blood:
2	chr19:39337724..39340689-chr19:39393839..39396661,3	K562	blood:
3	chr19:39390244..39393015-chr19:39395233..39398542,3	MCF-7	breast:
4	chr19:39394310..39397205-chr19:39405071..39408067,2	K562	blood:
5	chr19:39394709..39398675-chr19:39410709..39413256,3	K562	blood:
6	chr19:39394465..39398073-chr19:39398218..39402853,5	MCF-7	breast:
7	chr19:39217426..39220275-chr19:39394811..39396577,2	K562	blood:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000262484	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000068903	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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	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
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911674	chr19:39391547-39398631	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv911675	chr19:39394271-39398631	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv911676	chr19:39395654-39399277	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv911677	chr19:39395654-39404457	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
3	chr19:39391400-39397400	Weak transcription	Fetal Brain Female	brain
4	chr19:39391400-39397600	Weak transcription	Psoas Muscle	Psoas
5	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
6	chr19:39391600-39397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:39391600-39414800	Weak transcription	HMEC	breast
8	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
9	chr19:39391800-39395800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:39391800-39395800	Weak transcription	HSMMtube	muscle
11	chr19:39391800-39396000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39391800-39396200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:39391800-39397400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39391800-39397400	Weak transcription	Fetal Kidney	kidney
15	chr19:39391800-39397600	Weak transcription	HSMM	muscle
16	chr19:39391800-39397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:39391800-39399000	Weak transcription	NH-A	brain
18	chr19:39391800-39399600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:39391800-39400400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:39391800-39401800	Weak transcription	Fetal Lung	lung
21	chr19:39391800-39412200	Weak transcription	Osteobl	bone
22	chr19:39392000-39399600	Weak transcription	K562	blood
23	chr19:39392200-39398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:39392400-39395800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:39392400-39397200	Weak transcription	HUVEC	blood vessel
26	chr19:39392400-39399400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:39392600-39396000	Weak transcription	Stomach Mucosa	stomach
29	chr19:39392600-39396400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:39392600-39397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:39392600-39406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:39392800-39395800	Weak transcription	Fetal Thymus	thymus
35	chr19:39393600-39400200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:39393800-39400200	Strong transcription	Primary B cells from cord blood	blood
37	chr19:39394000-39401200	Strong transcription	Fetal Intestine Small	intestine
38	chr19:39394200-39398000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:39394200-39399200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:39394200-39399200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:39394200-39401200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:39394600-39401200	Strong transcription	Fetal Stomach	stomach
43	chr19:39394800-39395800	Genic enhancers	A549	lung
44	chr19:39394800-39396800	Strong transcription	Primary T cells from cord blood	blood
45	chr19:39394800-39398000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:39394800-39398400	Strong transcription	NHEK	skin
47	chr19:39394800-39398800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:39394800-39398800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:39394800-39398800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:39394800-39398800	Strong transcription	Rectal Mucosa Donor 29	rectum

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