Variant report

Variant	rs374958008
Chromosome Location	chr19:18396449-18396450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18396145..18399548-chr19:18528063..18530226,4	K562	blood:
2	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:

Variant related genes	Relation type
ENSG00000221167	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
6	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
7	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
8	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
9	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
10	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
11	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
12	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
13	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
14	nsv963018	chr19:18395612-18399311	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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18393800-18396800	Weak transcription	Ovary	ovary
2	chr19:18393800-18397400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:18393800-18397400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:18393800-18397400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:18393800-18397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:18393800-18397400	Weak transcription	Esophagus	oesophagus
7	chr19:18393800-18397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18393800-18397800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:18393800-18398000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:18393800-18398000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:18393800-18398400	Weak transcription	NH-A	brain
12	chr19:18393800-18399000	Weak transcription	Fetal Kidney	kidney
13	chr19:18393800-18401000	Weak transcription	Thymus	Thymus
14	chr19:18393800-18401200	Weak transcription	Right Atrium	heart
15	chr19:18393800-18402000	Weak transcription	Aorta	Aorta
16	chr19:18394000-18396800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:18394000-18396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:18394000-18396800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:18394000-18396800	Weak transcription	HSMMtube	muscle
20	chr19:18394000-18396800	Weak transcription	NHDF-Ad	bronchial
21	chr19:18394000-18397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:18394000-18397200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:18394000-18397200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:18394000-18397400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:18394000-18397400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:18394000-18397400	Weak transcription	Hela-S3	cervix
27	chr19:18394000-18397400	Weak transcription	HSMM	muscle
28	chr19:18394000-18398800	Weak transcription	Fetal Lung	lung
29	chr19:18394000-18398800	Weak transcription	A549	lung
30	chr19:18394000-18400400	Weak transcription	Dnd41	blood
31	chr19:18394000-18400600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:18394000-18400800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:18394000-18401200	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:18394000-18401400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:18394000-18401400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:18394000-18402000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:18394000-18402800	Weak transcription	Gastric	stomach
38	chr19:18394400-18397800	Weak transcription	Fetal Stomach	stomach
39	chr19:18394400-18399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:18394400-18399000	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:18394400-18399200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:18394400-18400400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr19:18394400-18400600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:18394400-18400800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:18394400-18401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:18394400-18402000	Weak transcription	Pancreas	Pancrea
47	chr19:18394400-18402000	Weak transcription	Right Ventricle	heart
48	chr19:18394600-18397400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:18394600-18400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:18394600-18402200	Weak transcription	Psoas Muscle	Psoas

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