Variant report

Variant	rs11376705
Chromosome Location	chr19:56184688-56184689
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
3	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:
4	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
5	chr19:56171886..56172422-chr19:56184594..56185375,2	K562	blood:
6	chr19:56172205..56174377-chr19:56183143..56185111,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063244	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000269859	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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3406564	chr19:56184365-56186913	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
3	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
5	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
7	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
9	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
10	chr19:56171400-56185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:56172000-56185000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:56172200-56185000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:56172800-56184800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
18	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
19	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
20	chr19:56179800-56184800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:56179800-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:56179800-56185400	Strong transcription	NHEK	skin
23	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
24	chr19:56181600-56185800	Genic enhancers	Liver	Liver
25	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
26	chr19:56182000-56184800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:56182000-56184800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:56182000-56184800	Weak transcription	Fetal Lung	lung
29	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:56182000-56185600	Weak transcription	HSMM	muscle
36	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
41	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
42	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
44	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
45	chr19:56182000-56185800	Weak transcription	HMEC	breast
46	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
47	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
49	chr19:56182200-56184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:56182200-56184800	Weak transcription	Brain Hippocampus Middle	brain

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