Variant report

Variant	rs531381769
Chromosome Location	chr6:53669853-53669854
allele	C/T
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	chr6:53669263..53671782-chr6:53791090..53793404,2	MCF-7	breast:
5	chr6:53657464..53661441-chr6:53668474..53671433,5	MCF-7	breast:
6	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53661400-53670400	Weak transcription	Primary T cells from cord blood	blood
2	chr6:53661400-53675600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:53661400-53688200	Weak transcription	Right Ventricle	heart
4	chr6:53662000-53670200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:53662600-53670000	Weak transcription	Esophagus	oesophagus
6	chr6:53662600-53670400	Weak transcription	Thymus	Thymus
7	chr6:53662600-53677600	Weak transcription	Small Intestine	intestine
8	chr6:53662800-53670200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:53662800-53670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:53662800-53675400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:53663200-53670600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:53664800-53673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:53665000-53674800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:53665000-53675600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:53666000-53670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:53667000-53670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:53667000-53670200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:53667600-53678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:53667800-53670000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:53667800-53673600	Enhancers	Brain Substantia Nigra	brain
21	chr6:53668000-53670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:53668000-53670800	Enhancers	NHEK	skin
23	chr6:53668000-53671400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:53668200-53670000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:53668200-53670400	Enhancers	Colon Smooth Muscle	Colon
26	chr6:53668200-53680200	Weak transcription	Fetal Stomach	stomach
27	chr6:53668600-53670000	Weak transcription	Brain Angular Gyrus	brain
28	chr6:53668600-53674400	Enhancers	Brain Hippocampus Middle	brain
29	chr6:53668800-53670400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:53668800-53674400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:53668800-53674800	Weak transcription	Lung	lung
32	chr6:53668800-53676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:53668800-53676000	Weak transcription	HUVEC	blood vessel
34	chr6:53668800-53680000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:53668800-53683800	Weak transcription	Ovary	ovary
36	chr6:53669000-53670000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:53669000-53670800	Weak transcription	HepG2	liver
38	chr6:53669400-53671000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:53669400-53671400	Enhancers	Brain Anterior Caudate	brain
40	chr6:53669600-53670200	Enhancers	Aorta	Aorta
41	chr6:53669600-53671000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:53669600-53671400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:53669600-53672200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:53669600-53674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:53669800-53670200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:53669800-53670200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:53669800-53670200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:53669800-53670200	Enhancers	Left Ventricle	heart
49	chr6:53669800-53670800	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:53669800-53670800	Enhancers	Right Atrium	heart

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