Variant report

Variant	rs552153513
Chromosome Location	chr6:44385478-44385479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44365878..44368641-chr6:44383402..44385534,2	K562	blood:
2	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	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:44359400-44386000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr6:44368400-44386000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:44369400-44385600	Strong transcription	Liver	Liver
14	chr6:44371400-44385600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:44371400-44385600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr6:44371400-44385600	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:44371600-44385600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:44371600-44385600	Strong transcription	Fetal Lung	lung
19	chr6:44371600-44385800	Strong transcription	Fetal Intestine Large	intestine
20	chr6:44371600-44386000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:44371800-44385600	Strong transcription	Fetal Brain Female	brain
22	chr6:44373200-44385600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:44374600-44388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:44378200-44385600	Strong transcription	Brain Germinal Matrix	brain
27	chr6:44378200-44387800	Weak transcription	Fetal Heart	heart
28	chr6:44378400-44387200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:44379000-44386000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:44379400-44385600	Strong transcription	Placenta	Placenta
31	chr6:44379600-44385600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:44379600-44385600	Strong transcription	Adipose Nuclei	Adipose
33	chr6:44379800-44385600	Strong transcription	Fetal Stomach	stomach
34	chr6:44380600-44385600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:44381000-44385600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:44381000-44385600	Strong transcription	HSMM	muscle
37	chr6:44382000-44387200	Weak transcription	Esophagus	oesophagus
38	chr6:44382800-44385600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:44382800-44385600	Strong transcription	Primary B cells from cord blood	blood
40	chr6:44382800-44385600	Strong transcription	K562	blood
41	chr6:44383000-44385600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:44383000-44386000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:44383200-44385600	Strong transcription	Primary T cells from cord blood	blood
44	chr6:44383200-44385600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:44383200-44385600	Strong transcription	Aorta	Aorta
46	chr6:44383200-44385600	Strong transcription	NHEK	skin
47	chr6:44383400-44385600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:44383400-44385600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:44383400-44385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:44383600-44385600	Strong transcription	Primary T cells fromperipheralblood	blood

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