Variant report

Variant	rs543658949
Chromosome Location	chr6:13441795-13441796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13421809..13424895-chr6:13440143..13443244,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13430000-13445000	Weak transcription	NHEK	skin
3	chr6:13432600-13445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
5	chr6:13433200-13442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:13433200-13445200	Weak transcription	Brain Angular Gyrus	brain
7	chr6:13433600-13445400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:13434400-13445200	Weak transcription	Fetal Heart	heart
9	chr6:13434400-13445200	Weak transcription	Pancreas	Pancrea
10	chr6:13434400-13448000	Weak transcription	Esophagus	oesophagus
11	chr6:13435600-13445000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:13436400-13445000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:13437200-13445000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:13437200-13445200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:13437600-13445200	Weak transcription	Fetal Thymus	thymus
16	chr6:13437800-13444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:13438000-13445200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:13438000-13445200	Weak transcription	GM12878-XiMat	blood
19	chr6:13438200-13448400	Weak transcription	Small Intestine	intestine
20	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:13439600-13445200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:13439800-13441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:13440200-13442400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:13440200-13443200	Enhancers	Fetal Lung	lung
25	chr6:13440200-13445400	Weak transcription	Psoas Muscle	Psoas
26	chr6:13440400-13445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:13440600-13442400	Enhancers	Adipose Nuclei	Adipose
28	chr6:13440600-13442400	Enhancers	Right Atrium	heart
29	chr6:13440800-13441800	Enhancers	Fetal Stomach	stomach
30	chr6:13440800-13441800	Enhancers	Left Ventricle	heart
31	chr6:13440800-13442800	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:13441000-13441800	Enhancers	Brain Anterior Caudate	brain
33	chr6:13441000-13441800	Enhancers	Fetal Muscle Leg	muscle
34	chr6:13441000-13441800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr6:13441000-13443000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:13441200-13441800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:13441200-13442400	Active TSS	Fetal Brain Male	brain
38	chr6:13441200-13445200	Weak transcription	Brain Substantia Nigra	brain
39	chr6:13441400-13442400	Enhancers	Lung	lung
40	chr6:13441400-13442800	Enhancers	Colonic Mucosa	Colon
41	chr6:13441400-13445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:13441400-13445200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:13441400-13448800	Weak transcription	Stomach Mucosa	stomach
44	chr6:13441600-13445000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:13441600-13445200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:13441600-13445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:13441600-13445200	Weak transcription	Liver	Liver
48	chr6:13441600-13445200	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:13441600-13445200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:13441600-13445200	Weak transcription	Right Ventricle	heart

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