Variant report

Variant	rs529597421
Chromosome Location	chr8:61564439-61564440
allele	A/G
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:45)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:2060990..2061503-chr8:61564430..61564988,2	Hela-S3	cervix:
2	chr8:61549271..61552282-chr8:61563024..61565421,3	K562	blood:
3	chr8:61326797..61329744-chr8:61563148..61565858,2	MCF-7	breast:
4	chr8:61549221..61552065-chr8:61563903..61565606,2	MCF-7	breast:
5	chr8:60909031..60911601-chr8:61562751..61565399,2	K562	blood:
6	chr8:61545345..61549170-chr8:61560322..61564526,3	K562	blood:
7	chr8:61495825..61497744-chr8:61563295..61565578,2	MCF-7	breast:
8	chr8:61563492..61565513-chr8:61620455..61623990,3	MCF-7	breast:
9	chr8:61563289..61565598-chr8:61614731..61616834,3	MCF-7	breast:
10	chr8:61564273..61566046-chr8:61966566..61969485,2	MCF-7	breast:
11	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
12	chr8:61563620..61565259-chr8:61566551..61570060,3	K562	blood:
13	chr4:39460157..39460971-chr8:61564324..61564830,2	NB4	blood:
14	chr8:61563470..61565224-chr8:61583333..61585587,2	MCF-7	breast:
15	chr8:61563266..61565580-chr8:61566081..61568561,3	MCF-7	breast:
16	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
17	chr8:61563378..61566107-chr8:61998856..62000891,3	K562	blood:
18	chr8:61563862..61565841-chr8:61998219..62000359,2	K562	blood:
19	chr8:61428155..61432658-chr8:61561209..61565927,6	K562	blood:
20	chr8:61552364..61555028-chr8:61563489..61565765,2	MCF-7	breast:
21	chr16:284676..285549-chr8:61564377..61565044,2	Hela-S3	cervix:
22	chr8:61322849..61326480-chr8:61562995..61566065,5	MCF-7	breast:
23	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
24	chr10:135192772..135193752-chr8:61564309..61564821,2	HCT-116	colon:
25	chr8:61428198..61432658-chr8:61562541..61565732,7	K562	blood:
26	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
27	chr21:30397011..30397511-chr8:61564437..61565262,2	Hela-S3	cervix:
28	chr8:61563900..61565522-chr8:61931938..61933624,2	MCF-7	breast:
29	chr8:61531895..61534395-chr8:61564231..61565929,2	MCF-7	breast:
30	chr21:43795518..43797652-chr8:61562855..61565743,2	MCF-7	breast:
31	chr8:61377484..61379005-chr8:61563115..61565919,2	K562	blood:
32	chr8:61564289..61566085-chr8:62064724..62067710,2	K562	blood:
33	chr8:61564286..61565117-chr8:61591120..61592100,2	MCF-7	breast:
34	chr5:133801452..133802054-chr8:61564433..61565008,2	Hela-S3	cervix:
35	chr1:154974238..154975228-chr8:61564410..61564937,2	Hela-S3	cervix:
36	chr2:55459460..55460287-chr8:61564326..61565030,2	NB4	blood:
37	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
38	chr8:61563024..61564810-chr8:61973085..61975241,2	K562	blood:
39	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
40	chr8:61564434..61565085-chr8:61591483..61592116,2	Hela-S3	cervix:
41	chr12:125398780..125399477-chr8:61564147..61565090,2	Hela-S3	cervix:
42	chr8:61562599..61565494-chr9:18702295..18704681,2	MCF-7	breast:
43	chr2:109335379..109336082-chr8:61564246..61565094,2	Hela-S3	cervix:
44	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:
45	chr8:61564005..61565776-chr8:61682362..61684915,2	MCF-7	breast:

(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
ENSG00000162994	Chromatin interaction
ENSG00000228862	Chromatin interaction
ENSG00000254869	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000121897	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000156256	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000163682	Chromatin interaction
ENSG00000153201	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000268882	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000104388	Chromatin interaction
ENSG00000148832	Chromatin interaction
ENSG00000273254	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61563000-61565400	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:61563200-61565400	Active TSS	Stomach Mucosa	stomach
3	chr8:61563400-61565200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:61563400-61565200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:61563400-61565200	Active TSS	HMEC	breast
6	chr8:61563400-61565400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:61563400-61565400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:61563400-61565400	Active TSS	Fetal Brain Female	brain
9	chr8:61563400-61565400	Active TSS	Fetal Intestine Small	intestine
10	chr8:61563400-61565600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:61563400-61565600	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:61563400-61565600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:61563400-61566400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:61563400-61566400	Active TSS	Right Atrium	heart
15	chr8:61563400-61566400	Active TSS	HSMMtube	muscle
16	chr8:61563400-61566800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr8:61563400-61567200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:61563600-61565000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:61563600-61565200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr8:61563600-61565200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:61563600-61565200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:61563600-61565200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:61563600-61565200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:61563600-61565200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:61563600-61565200	Active TSS	Brain Angular Gyrus	brain
26	chr8:61563600-61565200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:61563600-61565200	Active TSS	NH-A	brain
28	chr8:61563600-61565400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:61563600-61565400	Active TSS	Colonic Mucosa	Colon
30	chr8:61563600-61565400	Active TSS	Colon Smooth Muscle	Colon
31	chr8:61563600-61565400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr8:61563600-61565400	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr8:61563600-61565400	Active TSS	HSMM	muscle
34	chr8:61563600-61565600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:61563600-61565600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:61563600-61565600	Active TSS	Fetal Muscle Trunk	muscle
37	chr8:61563600-61565600	Active TSS	Fetal Muscle Leg	muscle
38	chr8:61563600-61565600	Active TSS	Left Ventricle	heart
39	chr8:61563600-61565600	Active TSS	HepG2	liver
40	chr8:61563600-61566000	Active TSS	Small Intestine	intestine
41	chr8:61563600-61566200	Active TSS	A549	lung
42	chr8:61563600-61566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:61563600-61566800	Active TSS	Placenta Amnion	Placenta Amnion
44	chr8:61563600-61566800	Active TSS	Psoas Muscle	Psoas
45	chr8:61563600-61566800	Active TSS	Right Ventricle	heart
46	chr8:61563800-61565200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:61563800-61565200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:61563800-61565200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:61563800-61565200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:61563800-61565400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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