Variant report

Variant	rs547570541
Chromosome Location	chr19:43981696-43981697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43979844..43983821-chr19:43985802..43988529,4	MCF-7	breast:
2	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
3	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
4	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:
5	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:

Variant related genes	Relation type
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv3417194	chr19:43975161-44000760	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3318137	chr19:43981245-43982094	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3491339	chr19:43981264-43982064	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3491338	chr19:43981282-43982077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3318141	chr19:43981291-43982065	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3318138	chr19:43981310-43982049	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3491340	chr19:43981314-43982060	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3318139	chr19:43981315-43982022	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3318142	chr19:43981372-43981992	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3491342	chr19:43981372-43981992	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43970000-43998200	Weak transcription	Gastric	stomach
2	chr19:43973800-43999800	Weak transcription	HepG2	liver
3	chr19:43979200-43982000	Weak transcription	Spleen	Spleen
4	chr19:43979400-43983200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:43979600-44005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:43979800-43981800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:43979800-43982200	Weak transcription	Esophagus	oesophagus
8	chr19:43979800-43985200	Weak transcription	Ovary	ovary
9	chr19:43979800-43990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:43979800-43992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:43979800-43994800	Weak transcription	Left Ventricle	heart
12	chr19:43979800-43998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:43979800-43998600	Weak transcription	Lung	lung
14	chr19:43979800-43998800	Weak transcription	Aorta	Aorta
15	chr19:43979800-43998800	Weak transcription	Pancreas	Pancrea
16	chr19:43980000-43982000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:43980000-43982000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:43980000-43982000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:43980000-43982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:43980000-43982000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:43980000-43982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:43980000-43982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:43980000-43984000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:43980000-43984000	Weak transcription	Fetal Heart	heart
27	chr19:43980000-43985000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:43980000-43989000	Strong transcription	Fetal Intestine Small	intestine
29	chr19:43980000-43990600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:43980000-43990800	Weak transcription	Colonic Mucosa	Colon
31	chr19:43980000-43994600	Weak transcription	Brain Anterior Caudate	brain
32	chr19:43980000-43994800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:43980000-43995000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:43980000-43998600	Weak transcription	Brain Germinal Matrix	brain
35	chr19:43980000-43998600	Weak transcription	Fetal Brain Female	brain
36	chr19:43980000-43998800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:43980000-43999400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:43980000-43999400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:43980000-43999600	Weak transcription	Brain Angular Gyrus	brain
40	chr19:43980000-43999600	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:43980000-44001000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:43980000-44001000	Weak transcription	Fetal Lung	lung
43	chr19:43980000-44001200	Weak transcription	Brain Substantia Nigra	brain
44	chr19:43980000-44001200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:43980000-44005600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:43980000-44005600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:43980000-44006200	Weak transcription	HMEC	breast
48	chr19:43980200-43982000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:43980200-43982000	Weak transcription	K562	blood
50	chr19:43980200-43988800	Strong transcription	Liver	Liver

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