Variant report

Variant	rs58322250
Chromosome Location	chr6:27636732-27636733
allele	G/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27636305..27638442-chr6:27804240..27806854,2	K562	blood:
2	chr6:27636299..27636853-chr6:27655225..27655832,2	K562	blood:
3	chr6:27635575..27638134-chr6:27861679..27863418,2	K562	blood:
4	chr6:27635615..27637908-chr6:27648456..27651146,2	K562	blood:
5	chr6:27636377..27638707-chr6:28318162..28320333,2	K562	blood:
6	chr6:27635541..27637440-chr6:27775758..27778224,2	K562	blood:
7	chr6:27634865..27637483-chr6:27858209..27861197,3	K562	blood:
8	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
9	chr6:27114631..27116159-chr6:27636447..27639406,2	K562	blood:
10	chr6:27636452..27637996-chr6:27722273..27724766,2	K562	blood:
11	chr6:27636112..27637828-chr6:27637904..27639437,2	K562	blood:
12	chr6:27635682..27638550-chr6:27638732..27640689,2	K562	blood:
13	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
14	chr6:27635070..27638218-chr6:27719785..27722837,4	K562	blood:
15	chr6:27515362..27517557-chr6:27635548..27637860,2	K562	blood:
16	chr6:27635538..27638265-chr6:27781232..27783499,2	MCF-7	breast:
17	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203813	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000196747	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1010261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236045	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4713116	1.00[ASN][1000 genomes]
rs4713117	0.91[ASN][1000 genomes]
rs60883433	0.82[AFR][1000 genomes]
rs7742887	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773905	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368516	0.86[ASN][1000 genomes]
rs9379997	0.93[ASN][1000 genomes]
rs9380009	0.86[ASN][1000 genomes]
rs9380013	0.82[ASN][1000 genomes]
rs9380014	0.82[ASN][1000 genomes]
rs9380015	0.82[ASN][1000 genomes]
rs9393829	0.86[ASN][1000 genomes]
rs9393845	0.84[ASN][1000 genomes]
rs9468183	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27638400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27634800-27637600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:27634800-27638400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:27634800-27638400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:27634800-27638800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:27634800-27639400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:27635000-27636800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27635000-27637400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:27635200-27637200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:27635200-27637600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
14	chr6:27635200-27639200	Active TSS	A549	lung
15	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:27635400-27636800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:27635400-27636800	Active TSS	NH-A	brain
18	chr6:27635400-27637200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:27635400-27637600	Bivalent/Poised TSS	HepG2	liver
20	chr6:27635400-27637800	Active TSS	NHLF	lung
21	chr6:27635400-27638000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:27635400-27638000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:27635400-27639200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:27635400-27639400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:27635600-27636800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr6:27635600-27637000	Active TSS	Hela-S3	cervix
27	chr6:27635600-27637200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:27635600-27637200	Active TSS	K562	blood
29	chr6:27635800-27636800	Active TSS	GM12878-XiMat	blood
30	chr6:27635800-27637000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:27635800-27637000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr6:27635800-27637000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr6:27635800-27637200	Active TSS	HMEC	breast
34	chr6:27635800-27637600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:27635800-27637600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr6:27635800-27637800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr6:27635800-27638000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:27636000-27636800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:27636000-27636800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:27636000-27637000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:27636000-27637400	Active TSS	Ovary	ovary
42	chr6:27636000-27638000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:27636000-27638200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:27636200-27637000	Bivalent/Poised TSS	Fetal Lung	lung
45	chr6:27636200-27637000	Active TSS	NHDF-Ad	bronchial
46	chr6:27636200-27637000	Active TSS	NHEK	skin
47	chr6:27636200-27637200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:27636200-27637400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:27636200-27637800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr6:27636200-27638800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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