Variant report

Variant	rs576012116
Chromosome Location	chr6:53668983-53668984
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:53668250..53669975-chr6:53693891..53696274,2	MCF-7	breast:
2	chr6:53658074..53661500-chr6:53665501..53670163,6	MCF-7	breast:
3	chr6:53668227..53671026-chr6:53671811..53674151,2	MCF-7	breast:
4	chr6:53657464..53661441-chr6:53668474..53671433,5	MCF-7	breast:
5	chr6:53668450..53670040-chr6:53712921..53715850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137269	Chromatin interaction
ENSG00000228614	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3474747	chr6:53648744-53677210	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3474748	chr6:53648758-53677207	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3430400	chr6:53668793-53672091	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53661400-53669800	Weak transcription	Gastric	stomach
2	chr6:53661400-53670400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:53661400-53675600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:53661400-53688200	Weak transcription	Right Ventricle	heart
5	chr6:53662000-53670200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:53662600-53669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:53662600-53670000	Weak transcription	Esophagus	oesophagus
8	chr6:53662600-53670400	Weak transcription	Thymus	Thymus
9	chr6:53662600-53677600	Weak transcription	Small Intestine	intestine
10	chr6:53662800-53669800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:53662800-53669800	Weak transcription	HMEC	breast
12	chr6:53662800-53670200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:53662800-53670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:53662800-53675400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:53663000-53669800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:53663200-53670600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:53664000-53669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:53664800-53669800	Weak transcription	Fetal Thymus	thymus
19	chr6:53664800-53673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:53665000-53669800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:53665000-53674800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:53665000-53675600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:53666000-53670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:53666200-53669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:53666800-53669000	Enhancers	NHLF	lung
26	chr6:53667000-53669800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:53667000-53670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:53667000-53670200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:53667200-53669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:53667400-53669600	Weak transcription	Aorta	Aorta
31	chr6:53667600-53678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:53667800-53669000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:53667800-53670000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:53667800-53673600	Enhancers	Brain Substantia Nigra	brain
35	chr6:53668000-53669000	Enhancers	NH-A	brain
36	chr6:53668000-53670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:53668000-53670800	Enhancers	NHEK	skin
38	chr6:53668000-53671400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:53668200-53669000	Enhancers	Brain Anterior Caudate	brain
40	chr6:53668200-53669000	Enhancers	Osteobl	bone
41	chr6:53668200-53669200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:53668200-53670000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:53668200-53670400	Enhancers	Colon Smooth Muscle	Colon
44	chr6:53668200-53680200	Weak transcription	Fetal Stomach	stomach
45	chr6:53668400-53669000	Strong transcription	HepG2	liver
46	chr6:53668600-53670000	Weak transcription	Brain Angular Gyrus	brain
47	chr6:53668600-53674400	Enhancers	Brain Hippocampus Middle	brain
48	chr6:53668800-53669000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:53668800-53669800	Weak transcription	Left Ventricle	heart
50	chr6:53668800-53669800	Weak transcription	Pancreas	Pancrea

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