Variant report

Variant	rs563686580
Chromosome Location	chr19:44031951-44031952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:44029384-44031997	IMR90	lung:	n/a	chr19:44031460-44031470
2	STAT3	chr19:44031725-44032550	MCF10A-Er-Src	breast:	n/a	chr19:44032355-44032364 chr19:44032354-44032365 chr19:44032356-44032365
3	MXI1	chr19:44029329-44032769	IMR90	lung:	n/a	chr19:44030149-44030158 chr19:44032277-44032292
4	JUN	chr19:44031833-44031992	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44031462..44033806-chr19:44035675..44037338,2	K562	blood:
2	chr19:43966406..43968657-chr19:44031869..44033375,2	K562	blood:
3	chr19:44031702..44033799-chr19:44122293..44123796,2	K562	blood:
4	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:

Variant related genes	Relation type
ETHE1	TF binding region
ENSG00000176472	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000124466	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	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44029000-44032000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr19:44029200-44032000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:44029200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:44029200-44032000	Active TSS	Fetal Intestine Large	intestine
5	chr19:44029400-44032000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:44029400-44032200	Active TSS	Esophagus	oesophagus
7	chr19:44029400-44032200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:44029400-44032400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44029600-44032200	Flanking Active TSS	Dnd41	blood
10	chr19:44029600-44032200	Active TSS	NHLF	lung
11	chr19:44029800-44032000	Active TSS	NHEK	skin
12	chr19:44030000-44032000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:44030000-44032000	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:44030000-44032000	Active TSS	NHDF-Ad	bronchial
15	chr19:44030200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:44030200-44032200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:44030200-44032200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:44030400-44032000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:44030400-44032800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:44030600-44032000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:44030600-44032200	Active TSS	Brain Anterior Caudate	brain
22	chr19:44030600-44032200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44030600-44032200	Active TSS	Colonic Mucosa	Colon
24	chr19:44030600-44032200	Active TSS	Psoas Muscle	Psoas
25	chr19:44030800-44032000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:44030800-44032000	Active TSS	Brain Cingulate Gyrus	brain
27	chr19:44030800-44032000	Active TSS	Brain Substantia Nigra	brain
28	chr19:44030800-44032000	Active TSS	Fetal Lung	lung
29	chr19:44030800-44032000	Active TSS	Right Atrium	heart
30	chr19:44030800-44032000	Active TSS	Right Ventricle	heart
31	chr19:44030800-44032000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:44030800-44032200	Active TSS	Brain Hippocampus Middle	brain
33	chr19:44030800-44032200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:44031000-44032000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:44031000-44032000	Active TSS	Brain Angular Gyrus	brain
36	chr19:44031000-44032000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:44031400-44032000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr19:44031400-44032000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:44031400-44032000	Flanking Active TSS	Fetal Brain Male	brain
40	chr19:44031600-44032000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:44031600-44032000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr19:44031600-44032000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:44031600-44032000	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr19:44031600-44032000	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr19:44031600-44032000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr19:44031600-44032000	Flanking Active TSS	Fetal Stomach	stomach
47	chr19:44031600-44032000	Weak transcription	Gastric	stomach
48	chr19:44031600-44036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:44031600-44036600	Weak transcription	Lung	lung
50	chr19:44031600-44036600	Weak transcription	Small Intestine	intestine

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