Variant report

Variant	rs554736613
Chromosome Location	chr6:13479143-13479144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13474954..13479608-chr6:13485470..13489356,6	MCF-7	breast:
2	chr6:13471064..13474808-chr6:13475712..13480057,5	K562	blood:
3	chr6:13477336..13479814-chr6:13494111..13495894,2	MCF-7	breast:
4	chr6:13477477..13480262-chr6:13540043..13542876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000187461	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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3354997	chr6:13478773-13482371	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13452200-13483400	Weak transcription	Gastric	stomach
2	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
3	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
4	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:13455400-13481000	Weak transcription	HUVEC	blood vessel
6	chr6:13462800-13484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:13463200-13481000	Weak transcription	A549	lung
8	chr6:13463600-13484400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:13463800-13484600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:13465200-13485000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:13469200-13480000	Weak transcription	Aorta	Aorta
12	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:13470800-13480200	Weak transcription	NH-A	brain
14	chr6:13470800-13483600	Weak transcription	Fetal Stomach	stomach
15	chr6:13471000-13485400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:13471000-13485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:13471200-13483400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:13471200-13483400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:13471400-13480400	Weak transcription	Fetal Lung	lung
20	chr6:13471400-13484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:13471600-13480200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:13471600-13481600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:13471600-13483600	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:13471600-13485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:13471800-13480200	Weak transcription	Fetal Brain Male	brain
26	chr6:13471800-13485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:13472000-13481800	Weak transcription	Brain Germinal Matrix	brain
28	chr6:13472200-13484400	Weak transcription	Brain Substantia Nigra	brain
29	chr6:13472400-13481800	Weak transcription	Brain Anterior Caudate	brain
30	chr6:13472800-13481000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:13473000-13480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:13473200-13480600	Weak transcription	Brain Angular Gyrus	brain
33	chr6:13474200-13480000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:13474800-13484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:13475200-13480200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:13475200-13483600	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:13475400-13480000	Weak transcription	HepG2	liver
38	chr6:13475400-13484400	Weak transcription	Hela-S3	cervix
39	chr6:13475600-13479400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13476400-13481200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:13476600-13481200	Weak transcription	K562	blood
42	chr6:13477000-13479400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:13477200-13482000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr6:13477400-13479800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:13477400-13481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:13477600-13480000	Weak transcription	Fetal Heart	heart
47	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:13477800-13479200	Enhancers	Esophagus	oesophagus
49	chr6:13477800-13479600	Weak transcription	Right Ventricle	heart
50	chr6:13477800-13480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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