Variant report

Variant	rs548229391
Chromosome Location	chr6:27635332-27635333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27630640..27633074-chr6:27634485..27635995,2	K562	blood:
2	chr6:27634865..27637483-chr6:27858209..27861197,3	K562	blood:
3	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
4	chr6:27570023..27571795-chr6:27634776..27636540,2	K562	blood:
5	chr6:27154773..27157322-chr6:27634142..27636330,2	MCF-7	breast:
6	chr6:27155324..27157508-chr6:27634451..27636223,2	K562	blood:
7	chr6:27635070..27638218-chr6:27719785..27722837,4	K562	blood:
8	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BL-1	chr6:27634762-27635538	XLOC_005659

No data

Variant related genes	Relation type
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27635600	Flanking Active TSS	K562	blood
2	chr6:27634600-27638400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:27634800-27635400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr6:27634800-27635800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:27634800-27635800	Flanking Active TSS	GM12878-XiMat	blood
7	chr6:27634800-27636200	Flanking Active TSS	NHEK	skin
8	chr6:27634800-27637600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:27634800-27638400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:27634800-27638400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:27634800-27638800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:27634800-27639400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:27635000-27635400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:27635000-27635400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr6:27635000-27635400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr6:27635000-27635400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:27635000-27635400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:27635000-27635400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:27635000-27635400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:27635000-27635400	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr6:27635000-27635400	Bivalent/Poised TSS	Osteobl	bone
24	chr6:27635000-27635600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr6:27635000-27635600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:27635000-27635800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:27635000-27636800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:27635000-27637400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:27635200-27635400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:27635200-27635400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:27635200-27635400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:27635200-27635400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr6:27635200-27635400	Active TSS	Ovary	ovary
34	chr6:27635200-27635400	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr6:27635200-27635600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr6:27635200-27635600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:27635200-27635600	Flanking Active TSS	Hela-S3	cervix
38	chr6:27635200-27635800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:27635200-27635800	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr6:27635200-27635800	Flanking Active TSS	HMEC	breast
41	chr6:27635200-27636000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:27635200-27636200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:27635200-27636200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
44	chr6:27635200-27636400	Bivalent Enhancer	Fetal Stomach	stomach
45	chr6:27635200-27637200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:27635200-27637600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
47	chr6:27635200-27639200	Active TSS	A549	lung
48	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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