Variant report

Variant	rs191948511
Chromosome Location	chr19:41331207-41331208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3349365	chr19:41330612-41335310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
3	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:41324600-41332600	Weak transcription	NHLF	lung
7	chr19:41324800-41332600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:41324800-41332600	Weak transcription	Fetal Brain Male	brain
9	chr19:41324800-41332600	Weak transcription	Fetal Brain Female	brain
10	chr19:41324800-41332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:41324800-41332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:41324800-41332800	Weak transcription	Esophagus	oesophagus
13	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
14	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
15	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:41325800-41332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:41325800-41332600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:41325800-41332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:41325800-41332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:41325800-41332600	Weak transcription	Fetal Stomach	stomach
22	chr19:41325800-41332800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:41325800-41332800	Weak transcription	Dnd41	blood
24	chr19:41325800-41332800	Weak transcription	NHDF-Ad	bronchial
25	chr19:41325800-41332800	Weak transcription	Osteobl	bone
26	chr19:41325800-41333000	Weak transcription	Thymus	Thymus
27	chr19:41326000-41332600	Weak transcription	Fetal Thymus	thymus
28	chr19:41326000-41332600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:41326200-41332800	Weak transcription	Fetal Kidney	kidney
31	chr19:41327600-41331400	Enhancers	K562	blood
32	chr19:41327600-41332600	Weak transcription	HSMM	muscle
33	chr19:41327800-41331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41327800-41332600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:41328000-41334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:41328400-41333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:41328800-41332800	Weak transcription	Left Ventricle	heart
38	chr19:41328800-41337400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr19:41329000-41335400	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:41329200-41331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:41329200-41332600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:41329200-41332600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:41329200-41332600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:41329200-41332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:41329200-41332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:41329200-41332800	Weak transcription	Brain Angular Gyrus	brain
47	chr19:41329200-41332800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:41329200-41333000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:41329200-41333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:41329200-41334000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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