Variant report

Variant	rs112393173
Chromosome Location	chr19:41329731-41329732
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	chr19:41167522..41169643-chr19:41327340..41330313,2	K562	blood:
2	chr19:41308981..41310761-chr19:41328950..41331084,2	K562	blood:

Variant related genes	Relation type
ENSG00000269858	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

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	chr19:41322600-41330600	Enhancers	Placenta	Placenta
4	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:41324600-41332600	Weak transcription	NHLF	lung
8	chr19:41324800-41332600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:41324800-41332600	Weak transcription	Fetal Brain Male	brain
10	chr19:41324800-41332600	Weak transcription	Fetal Brain Female	brain
11	chr19:41324800-41332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:41324800-41332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:41324800-41332800	Weak transcription	Esophagus	oesophagus
14	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
15	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
16	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:41325400-41329800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:41325800-41330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:41325800-41331000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:41325800-41331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:41325800-41331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:41325800-41332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:41325800-41332600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:41325800-41332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:41325800-41332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:41325800-41332600	Weak transcription	Fetal Stomach	stomach
28	chr19:41325800-41332800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:41325800-41332800	Weak transcription	Dnd41	blood
30	chr19:41325800-41332800	Weak transcription	NHDF-Ad	bronchial
31	chr19:41325800-41332800	Weak transcription	Osteobl	bone
32	chr19:41325800-41333000	Weak transcription	Thymus	Thymus
33	chr19:41326000-41331000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:41326000-41332600	Weak transcription	Fetal Thymus	thymus
35	chr19:41326000-41332600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:41326200-41329800	Weak transcription	Primary T cells from cord blood	blood
38	chr19:41326200-41329800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr19:41326200-41329800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:41326200-41332800	Weak transcription	Fetal Kidney	kidney
41	chr19:41327600-41330400	Enhancers	Fetal Intestine Small	intestine
42	chr19:41327600-41331400	Enhancers	K562	blood
43	chr19:41327600-41332600	Weak transcription	HSMM	muscle
44	chr19:41327800-41330200	Enhancers	Right Ventricle	heart
45	chr19:41327800-41330600	Enhancers	Fetal Intestine Large	intestine
46	chr19:41327800-41330800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr19:41327800-41331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:41327800-41332600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:41328000-41330000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:41328000-41330200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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