Variant report

Variant	rs548918368
Chromosome Location	chr6:56912768-56912769
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56817930..56821539-chr6:56909452..56912838,6	K562	blood:
2	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
3	chr6:56912603..56915115-chr6:57036560..57039100,2	MCF-7	breast:
4	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv970684	chr6:56912349-56953340	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911400-56912800	Weak transcription	Fetal Brain Male	brain
2	chr6:56911600-56912800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:56911600-56912800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:56911600-56912800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:56911600-56912800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:56911600-56912800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:56911600-56912800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:56911600-56912800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:56911600-56912800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:56911600-56912800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:56911600-56912800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:56911600-56912800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:56911600-56912800	Weak transcription	Liver	Liver
14	chr6:56911600-56912800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:56911600-56912800	Weak transcription	Fetal Stomach	stomach
16	chr6:56911600-56912800	Weak transcription	GM12878-XiMat	blood
17	chr6:56911600-56912800	Weak transcription	Hela-S3	cervix
18	chr6:56911600-56913000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:56911600-56913000	Weak transcription	Small Intestine	intestine
20	chr6:56911600-56913200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:56911600-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
26	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:56911600-56935200	Weak transcription	Gastric	stomach
28	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:56911800-56912800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:56911800-56912800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:56911800-56912800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:56911800-56912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:56911800-56912800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:56911800-56912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:56911800-56912800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:56911800-56912800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:56911800-56912800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:56911800-56912800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:56911800-56912800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:56911800-56912800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:56911800-56912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:56911800-56912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:56911800-56912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:56911800-56912800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:56911800-56912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:56911800-56912800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:56911800-56912800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:56911800-56912800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:56911800-56912800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:56911800-56912800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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