Variant report

Variant	rs1713734
Chromosome Location	chr8:124168612-124168613
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
2	chr8:124148204..124150384-chr8:124166803..124168730,2	K562	blood:
3	chr8:124167564..124170278-chr8:124251813..124254580,3	MCF-7	breast:
4	chr8:123684547..123688110-chr8:124165603..124168648,4	MCF-7	breast:
5	chr8:124167057..124172229-chr8:124191118..124196313,7	K562	blood:
6	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
7	chr8:124052015..124054653-chr8:124168491..124170675,2	K562	blood:
8	chr8:124167002..124169301-chr8:124225898..124228350,2	K562	blood:
9	chr8:124166020..124168823-chr8:124193336..124196085,3	MCF-7	breast:
10	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
11	chr8:123791785..123795272-chr8:124167188..124172743,5	MCF-7	breast:
12	chr8:124167982..124170963-chr8:124285377..124287525,2	MCF-7	breast:
13	chr8:124084008..124086600-chr8:124166741..124169529,3	MCF-7	breast:
14	chr8:124167110..124168652-chr8:124170200..124172879,2	MCF-7	breast:
15	chr8:124167743..124172035-chr8:124177154..124180052,5	MCF-7	breast:
16	chr8:124113238..124115407-chr8:124166495..124168725,2	K562	blood:
17	chr8:124164093..124166730-chr8:124166836..124169450,2	MCF-7	breast:
18	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
19	chr8:124083388..124086760-chr8:124168101..124170880,3	K562	blood:
20	chr8:123746077..123748094-chr8:124165857..124168828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000272043	Chromatin interaction
ENSG00000272384	Chromatin interaction
ENSG00000178764	Chromatin interaction
ENSG00000266324	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000189376	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10481150	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670189	0.84[EUR][1000 genomes]
rs1670190	0.82[ASN][1000 genomes]
rs1713735	0.97[ASN][1000 genomes]
rs1713736	0.97[ASN][1000 genomes]
rs1814912	0.88[ASN][1000 genomes]
rs6470143	0.80[EUR][1000 genomes]
rs6470144	0.81[EUR][1000 genomes]
rs6991182	0.82[EUR][1000 genomes]
rs6991323	0.80[EUR][1000 genomes]
rs7008474	0.99[ASN][1000 genomes]
rs7818440	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
4	chr8:124086600-124168800	Weak transcription	Lung	lung
5	chr8:124096200-124168800	Weak transcription	Liver	Liver
6	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
7	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
11	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
12	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
13	chr8:124116400-124168800	Weak transcription	Ovary	ovary
14	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
17	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
20	chr8:124140400-124168800	Weak transcription	Right Ventricle	heart
21	chr8:124141000-124168800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:124142600-124168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:124145600-124168800	Weak transcription	Fetal Brain Male	brain
24	chr8:124147800-124168800	Weak transcription	Spleen	Spleen
25	chr8:124152200-124168800	Weak transcription	Fetal Kidney	kidney
26	chr8:124152200-124169400	Weak transcription	HSMMtube	muscle
27	chr8:124152800-124168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:124153600-124169000	Weak transcription	HSMM	muscle
29	chr8:124154000-124168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:124154800-124168800	Weak transcription	HepG2	liver
31	chr8:124155000-124169000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:124156000-124168800	Weak transcription	HUVEC	blood vessel
33	chr8:124156200-124168800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:124156200-124169000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:124156200-124169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:124157600-124169000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:124157600-124169000	Weak transcription	Left Ventricle	heart
38	chr8:124157800-124168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:124158600-124168800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:124158800-124168800	Weak transcription	Fetal Lung	lung
41	chr8:124159200-124168800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:124159400-124168800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:124159400-124168800	Weak transcription	Fetal Intestine Large	intestine
44	chr8:124159400-124168800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:124159400-124169000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:124159800-124169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:124161200-124168800	Weak transcription	Fetal Intestine Small	intestine
48	chr8:124161200-124169000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:124162000-124168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:124162000-124168800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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