Variant report

Variant	rs548014121
Chromosome Location	chr6:44386196-44386197
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	chr6:44382268..44386801-chr6:44387364..44390498,4	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv885858	chr6:44385441-44421240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:44374600-44388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:44378200-44387800	Weak transcription	Fetal Heart	heart
8	chr6:44378400-44387200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:44382000-44387200	Weak transcription	Esophagus	oesophagus
10	chr6:44384000-44387000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:44384000-44387200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:44384200-44397600	Weak transcription	Small Intestine	intestine
13	chr6:44384400-44387000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:44384400-44387200	Weak transcription	Ovary	ovary
15	chr6:44384600-44396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:44385000-44389600	Weak transcription	Stomach Mucosa	stomach
17	chr6:44385000-44392800	Weak transcription	Right Ventricle	heart
18	chr6:44385000-44397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:44385200-44387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:44385200-44387000	Weak transcription	Colonic Mucosa	Colon
21	chr6:44385200-44387000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:44385200-44387200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:44385200-44387200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:44385200-44387200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:44385200-44387400	Weak transcription	Fetal Intestine Small	intestine
26	chr6:44385200-44387800	Weak transcription	Lung	lung
27	chr6:44385200-44388200	Weak transcription	Psoas Muscle	Psoas
28	chr6:44385200-44403200	Weak transcription	Gastric	stomach
29	chr6:44385400-44387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:44385400-44387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:44385400-44387000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:44385400-44387000	Weak transcription	Brain Substantia Nigra	brain
33	chr6:44385400-44387000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:44385400-44387000	Weak transcription	HSMMtube	muscle
35	chr6:44385400-44387200	Weak transcription	NHLF	lung
36	chr6:44385400-44387400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:44385400-44390000	Weak transcription	Fetal Kidney	kidney
38	chr6:44385400-44392600	Weak transcription	Fetal Brain Male	brain
39	chr6:44385600-44386800	Weak transcription	Dnd41	blood
40	chr6:44385600-44387000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:44385600-44387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:44385600-44387000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:44385600-44387000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:44385600-44387000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:44385600-44387000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:44385600-44387000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:44385600-44387000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:44385600-44387000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:44385600-44387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:44385600-44387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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