Variant report

Variant	rs4734670
Chromosome Location	chr8:103820563-103820564
allele	C/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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:
2	chr8:103788996..103790949-chr8:103819445..103820984,2	MCF-7	breast:
3	chr16:78495514..78497334-chr8:103819724..103822286,2	MCF-7	breast:
4	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
5	chr8:103819401..103822063-chr8:103831348..103833645,2	MCF-7	breast:
6	chr8:103665037..103666754-chr8:103819414..103820860,9	MCF-7	breast:
7	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
8	chr8:103800931..103801833-chr8:103819953..103821402,6	MCF-7	breast:
9	chr8:103612922..103613818-chr8:103820286..103821055,2	MCF-7	breast:
10	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
11	chr8:103606714..103608840-chr8:103819569..103821796,2	K562	blood:
12	chr8:103672018..103673821-chr8:103819669..103822518,2	K562	blood:
13	chr8:103421399..103423830-chr8:103819502..103822467,3	K562	blood:
14	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
15	chr8:103701066..103702596-chr8:103819068..103820617,2	K562	blood:
16	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
17	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
18	chr8:103613027..103614139-chr8:103820218..103821212,3	MCF-7	breast:
19	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
20	chr8:101732486..101734553-chr8:103818799..103820944,2	K562	blood:
21	chr8:103696488..103698955-chr8:103820136..103822762,2	MCF-7	breast:
22	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
23	chr8:102516348..102516877-chr8:103820347..103821111,2	MCF-7	breast:
24	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
25	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
26	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
27	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
28	chr8:103713778..103716086-chr8:103819862..103822357,3	MCF-7	breast:
29	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
30	chr8:103818457..103821260-chr9:4985022..4986557,2	MCF-7	breast:
31	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
32	chr8:103665907..103666652-chr8:103819723..103820565,2	MCF-7	breast:
33	chr8:103801046..103802242-chr8:103819152..103820867,8	MCF-7	breast:
34	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
35	chr8:103819513..103821263-chr8:103841167..103843159,2	K562	blood:
36	chr8:103620698..103622905-chr8:103819199..103821152,2	K562	blood:
37	chr17:59770928..59771546-chr8:103820176..103820698,2	MCF-7	breast:
38	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
39	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
40	chr8:103699541..103701462-chr8:103819381..103821442,2	MCF-7	breast:
41	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
42	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
43	chr17:39680970..39683210-chr8:103819163..103820752,2	MCF-7	breast:
44	chr8:103665763..103666536-chr8:103820129..103820844,3	MCF-7	breast:
45	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
46	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
47	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:
48	chr8:103801123..103801836-chr8:103820284..103821038,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000096968	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000160447	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000171345	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000108395	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1019975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544232	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12546193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546634	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12546636	0.89[AMR][1000 genomes]
rs12547200	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17197341	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17775390	0.89[AMR][1000 genomes]
rs17775450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011262	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2304348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734066	0.89[AMR][1000 genomes]
rs4734672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734676	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4734678	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56854051	0.92[EUR][1000 genomes]
rs62522574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522576	0.89[AMR][1000 genomes]
rs62522599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62522602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62522603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62526533	0.86[EUR][1000 genomes]
rs62526534	0.84[EUR][1000 genomes]
rs6999267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999525	0.86[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103816800-103822400	Enhancers	Spleen	Spleen
2	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:103818200-103821200	Enhancers	Fetal Brain Male	brain
4	chr8:103818600-103822200	Enhancers	HUVEC	blood vessel
5	chr8:103819200-103820600	Flanking Active TSS	Osteobl	bone
6	chr8:103819200-103820800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr8:103819200-103821200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:103819200-103821200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:103819200-103821400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr8:103819200-103821600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:103819200-103821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:103819200-103822800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:103819400-103820600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:103819400-103820600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:103819400-103820600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:103819400-103820800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:103819400-103820800	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr8:103819400-103820800	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:103819400-103820800	Flanking Active TSS	HepG2	liver
22	chr8:103819400-103820800	Flanking Active TSS	HSMM	muscle
23	chr8:103819400-103821000	Enhancers	Lung	lung
24	chr8:103819400-103821200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:103819400-103821800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:103819400-103821800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:103819400-103822600	Flanking Active TSS	A549	lung
28	chr8:103819400-103822600	Flanking Active TSS	Hela-S3	cervix
29	chr8:103819400-103822800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr8:103819600-103821000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr8:103819600-103821000	Enhancers	Gastric	stomach
32	chr8:103819600-103821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:103819600-103821800	Enhancers	Psoas Muscle	Psoas
34	chr8:103819600-103822200	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:103819600-103822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:103819600-103822400	Enhancers	Left Ventricle	heart
37	chr8:103819600-103822600	Weak transcription	Ovary	ovary
38	chr8:103819800-103820800	Weak transcription	Aorta	Aorta
39	chr8:103819800-103820800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:103819800-103821000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr8:103819800-103821200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:103819800-103821600	Enhancers	Placenta	Placenta
43	chr8:103819800-103821800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:103819800-103821800	Enhancers	Right Ventricle	heart
45	chr8:103819800-103822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:103819800-103822200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr8:103819800-103822200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:103819800-103822200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:103819800-103822200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:103819800-103822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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