Variant report

Variant	rs575874275
Chromosome Location	chr19:39260307-39260308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39260117..39262134-chr19:39341376..39343069,2	K562	blood:
2	chr19:39260065..39260751-chr19:39420671..39421390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000104835	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	nsv9719	chr19:39260214-39262452	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39254200-39265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39259800-39260400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:39259800-39260600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:39259800-39261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:39259800-39261000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr19:39260000-39260400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr19:39260000-39260400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:39260000-39260400	Enhancers	Esophagus	oesophagus
10	chr19:39260000-39260400	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:39260000-39260400	Flanking Active TSS	NHEK	skin
12	chr19:39260000-39260600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:39260000-39261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:39260000-39261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:39260000-39261000	Enhancers	Lung	lung
16	chr19:39260000-39261000	Enhancers	Pancreas	Pancrea
17	chr19:39260000-39261000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr19:39260000-39261000	Enhancers	Stomach Mucosa	stomach
19	chr19:39260000-39261000	Enhancers	Spleen	Spleen
20	chr19:39260000-39261000	Enhancers	HMEC	breast
21	chr19:39260200-39260400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr19:39260200-39260400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr19:39260200-39260400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:39260200-39260400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:39260200-39260400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr19:39260200-39260400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr19:39260200-39260400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:39260200-39260400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:39260200-39260400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr19:39260200-39260400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr19:39260200-39260400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:39260200-39260400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:39260200-39260400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:39260200-39260400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:39260200-39260400	Enhancers	Brain Anterior Caudate	brain
36	chr19:39260200-39260400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr19:39260200-39260400	Bivalent Enhancer	Fetal Brain Male	brain
38	chr19:39260200-39260400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr19:39260200-39260400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr19:39260200-39260400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr19:39260200-39260400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr19:39260200-39260400	Flanking Active TSS	Thymus	Thymus
43	chr19:39260200-39260600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr19:39260200-39260600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr19:39260200-39260600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr19:39260200-39260600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:39260200-39260600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:39260200-39260600	Enhancers	Adipose Nuclei	Adipose
49	chr19:39260200-39260600	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr19:39260200-39260600	Active TSS	Duodenum Smooth Muscle	Duodenum

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