Variant report

Variant	rs552520348
Chromosome Location	chr8:61563439-61563440
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61549271..61552282-chr8:61563024..61565421,3	K562	blood:
2	chr8:61326797..61329744-chr8:61563148..61565858,2	MCF-7	breast:
3	chr8:60909031..60911601-chr8:61562751..61565399,2	K562	blood:
4	chr8:61545345..61549170-chr8:61560322..61564526,3	K562	blood:
5	chr8:61495825..61497744-chr8:61563295..61565578,2	MCF-7	breast:
6	chr8:61563289..61565598-chr8:61614731..61616834,3	MCF-7	breast:
7	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
8	chr8:61563266..61565580-chr8:61566081..61568561,3	MCF-7	breast:
9	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
10	chr8:61563378..61566107-chr8:61998856..62000891,3	K562	blood:
11	chr8:61428155..61432658-chr8:61561209..61565927,6	K562	blood:
12	chr8:61322849..61326480-chr8:61562995..61566065,5	MCF-7	breast:
13	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
14	chr8:61428198..61432658-chr8:61562541..61565732,7	K562	blood:
15	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
16	chr21:43795518..43797652-chr8:61562855..61565743,2	MCF-7	breast:
17	chr8:61377484..61379005-chr8:61563115..61565919,2	K562	blood:
18	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
19	chr8:61563024..61564810-chr8:61973085..61975241,2	K562	blood:
20	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
21	chr8:61562599..61565494-chr9:18702295..18704681,2	MCF-7	breast:
22	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-5	chr8:61558738-61564811	NONHSAT126845

No data

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction
ENSG00000254869	Chromatin interaction
ENSG00000228862	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000255289	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv3370592	chr8:61563423-61565971	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61554200-61564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:61558800-61563600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:61558800-61563600	Weak transcription	Left Ventricle	heart
4	chr8:61559200-61563600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:61559800-61563600	Weak transcription	Fetal Brain Male	brain
6	chr8:61560800-61563600	Weak transcription	Right Ventricle	heart
7	chr8:61561200-61563600	Weak transcription	K562	blood
8	chr8:61562800-61563600	Enhancers	Fetal Heart	heart
9	chr8:61563000-61564000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:61563000-61565400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:61563200-61563600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:61563200-61563600	Enhancers	Adipose Nuclei	Adipose
13	chr8:61563200-61563600	Enhancers	Liver	Liver
14	chr8:61563200-61563600	Enhancers	Brain Germinal Matrix	brain
15	chr8:61563200-61563600	Enhancers	Brain Hippocampus Middle	brain
16	chr8:61563200-61563600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:61563200-61563600	Enhancers	Brain Substantia Nigra	brain
18	chr8:61563200-61563600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:61563200-61563600	Enhancers	HepG2	liver
20	chr8:61563200-61563600	Enhancers	HSMM	muscle
21	chr8:61563200-61563800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:61563200-61563800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:61563200-61565400	Active TSS	Stomach Mucosa	stomach
24	chr8:61563400-61563600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:61563400-61563600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:61563400-61563600	Enhancers	Brain Anterior Caudate	brain
27	chr8:61563400-61563600	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:61563400-61563600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:61563400-61563600	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:61563400-61563600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:61563400-61563600	Enhancers	Fetal Lung	lung
32	chr8:61563400-61563600	Enhancers	Fetal Muscle Leg	muscle
33	chr8:61563400-61563600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr8:61563400-61563600	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:61563400-61563600	Flanking Active TSS	A549	lung
36	chr8:61563400-61563600	Active TSS	Hela-S3	cervix
37	chr8:61563400-61563600	Enhancers	NHEK	skin
38	chr8:61563400-61563600	Enhancers	Osteobl	bone
39	chr8:61563400-61563800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:61563400-61563800	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr8:61563400-61563800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr8:61563400-61563800	Flanking Active TSS	GM12878-XiMat	blood
43	chr8:61563400-61564000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:61563400-61564000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:61563400-61564000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:61563400-61564200	Flanking Active TSS	HUVEC	blood vessel
47	chr8:61563400-61565200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr8:61563400-61565200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:61563400-61565200	Active TSS	HMEC	breast
50	chr8:61563400-61565400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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