Variant report

Variant	rs562020383
Chromosome Location	chr6:53784292-53784293
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53656949..53662173-chr6:53781368..53784554,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3389734	chr6:53783968-53784315	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53759200-53787600	Weak transcription	Spleen	Spleen
2	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
3	chr6:53759400-53786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:53759600-53789800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:53760400-53789400	Weak transcription	Stomach Mucosa	stomach
6	chr6:53760400-53791200	Weak transcription	Hela-S3	cervix
7	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:53761000-53785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:53761400-53787400	Weak transcription	HMEC	breast
10	chr6:53761400-53791200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:53761600-53790800	Weak transcription	Fetal Heart	heart
12	chr6:53761800-53786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:53762000-53791200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:53762000-53791600	Weak transcription	Fetal Lung	lung
15	chr6:53762200-53786800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:53764400-53784600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:53768600-53785000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:53769000-53785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:53769200-53790400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:53769600-53785200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:53769800-53784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:53769800-53784400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:53770600-53787400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:53771200-53785000	Weak transcription	Left Ventricle	heart
27	chr6:53772000-53784400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:53772000-53787600	Weak transcription	Pancreas	Pancrea
29	chr6:53772000-53803000	Weak transcription	Lung	lung
30	chr6:53776000-53786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:53776000-53790600	Weak transcription	Brain Germinal Matrix	brain
32	chr6:53776200-53786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:53776400-53786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:53776600-53785200	Weak transcription	Ovary	ovary
35	chr6:53776600-53789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:53776800-53791000	Weak transcription	HUVEC	blood vessel
37	chr6:53777600-53790600	Strong transcription	Fetal Thymus	thymus
38	chr6:53778000-53787800	Strong transcription	Dnd41	blood
39	chr6:53778000-53791800	Weak transcription	Small Intestine	intestine
40	chr6:53779200-53787600	Weak transcription	Aorta	Aorta
41	chr6:53779400-53787600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:53779600-53784400	Weak transcription	Fetal Stomach	stomach
43	chr6:53779600-53784800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:53779600-53785400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:53779600-53787400	Weak transcription	Esophagus	oesophagus
46	chr6:53779600-53791400	Weak transcription	Placenta	Placenta
47	chr6:53779800-53785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:53780200-53784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:53780200-53790400	Weak transcription	Gastric	stomach
50	chr6:53780400-53784400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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