Variant report

Variant	rs56791675
Chromosome Location	chr8:103612849-103612850
allele	A/C
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103611934..103614222-chr8:103799650..103801342,2	MCF-7	breast:
2	chr8:103612475..103613967-chr8:103822902..103824162,4	MCF-7	breast:
3	chr8:103611593..103614378-chr8:103673976..103676752,2	MCF-7	breast:
4	chr8:103611533..103613612-chr8:103826955..103829615,2	MCF-7	breast:
5	chr8:103597950..103598611-chr8:103612595..103613568,2	MCF-7	breast:
6	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
7	chr8:103612309..103614258-chr8:103757313..103760132,2	MCF-7	breast:
8	chr8:103612606..103614596-chr8:103644963..103646677,2	MCF-7	breast:
9	chr8:103413097..103415082-chr8:103611683..103614230,3	MCF-7	breast:
10	chr8:103539417..103541497-chr8:103612247..103613924,2	MCF-7	breast:
11	chr11:65188907..65191280-chr8:103610894..103613033,2	MCF-7	breast:
12	chr8:103611028..103613116-chr8:103635712..103638657,2	K562	blood:
13	chr8:103590076..103590706-chr8:103612649..103613335,2	MCF-7	breast:
14	chr8:103612111..103614488-chr8:103776554..103778954,2	MCF-7	breast:
15	chr8:103612415..103613811-chr8:103665804..103666814,6	MCF-7	breast:
16	chr1:247177709..247178479-chr8:103612663..103613495,2	MCF-7	breast:
17	chr8:103610682..103613281-chr8:103617723..103620341,2	K562	blood:
18	chr8:103610633..103618537-chr8:103662081..103669570,24	MCF-7	breast:
19	chr8:103588260..103591760-chr8:103612435..103616119,7	MCF-7	breast:
20	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:
21	chr8:103612230..103614830-chr8:103769298..103771292,3	MCF-7	breast:
22	chr8:103606352..103608915-chr8:103612580..103614660,2	K562	blood:
23	chr8:103612845..103613690-chr8:103628496..103629076,2	Hela-S3	cervix:
24	chr8:103612630..103613493-chr8:103639463..103640288,2	MCF-7	breast:
25	chr8:103612224..103613922-chr8:103713851..103716447,2	MCF-7	breast:
26	chr8:103612523..103614553-chr8:103650121..103652108,2	MCF-7	breast:
27	chr8:103249747..103252065-chr8:103611727..103613272,2	MCF-7	breast:
28	chr8:103611183..103613432-chr8:103875344..103878248,3	MCF-7	breast:
29	chr8:103249682..103253435-chr8:103611734..103616089,6	MCF-7	breast:
30	chr8:103612415..103613811-chr8:103665750..103666814,7	MCF-7	breast:
31	chr8:103612597..103614487-chr8:103669576..103671484,2	MCF-7	breast:
32	chr8:103610542..103615201-chr8:103799392..103803025,12	MCF-7	breast:
33	chr8:103612611..103613494-chr8:103663794..103664718,2	MCF-7	breast:
34	chr8:103394320..103397702-chr8:103611755..103614575,3	MCF-7	breast:
35	chr8:103612645..103615158-chr8:103875756..103877314,2	MCF-7	breast:
36	chr8:103420304..103422038-chr8:103611446..103613008,2	MCF-7	breast:
37	chr8:103612723..103614322-chr8:104019248..104021545,2	MCF-7	breast:
38	chr8:103611739..103615321-chr8:103653896..103661701,12	MCF-7	breast:
39	chr8:103422529..103425503-chr8:103610947..103614616,5	MCF-7	breast:
40	chr8:103606751..103617128-chr8:103816392..103825354,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000236775	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10505031	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12681683	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1972799	0.96[ASN][1000 genomes]
rs2511657	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57376184	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7825858	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826407	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs919957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103603800-103613000	Weak transcription	Right Atrium	heart
2	chr8:103611000-103613000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:103612200-103613000	Enhancers	Pancreas	Pancrea
4	chr8:103612200-103613000	Enhancers	Right Ventricle	heart
5	chr8:103612200-103613000	Flanking Active TSS	Hela-S3	cervix
6	chr8:103612200-103613800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:103612200-103614000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:103612200-103614000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:103612200-103614200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:103612200-103614200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:103612400-103613000	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr8:103612400-103613000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:103612400-103613000	Enhancers	Esophagus	oesophagus
14	chr8:103612400-103613000	Enhancers	Fetal Heart	heart
15	chr8:103612400-103613000	Enhancers	Ovary	ovary
16	chr8:103612400-103613000	Enhancers	Psoas Muscle	Psoas
17	chr8:103612400-103613200	Flanking Active TSS	Liver	Liver
18	chr8:103612400-103613800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:103612400-103614000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:103612400-103614000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr8:103612400-103614000	Enhancers	Gastric	stomach
22	chr8:103612400-103614000	Enhancers	Lung	lung
23	chr8:103612400-103614000	Enhancers	Spleen	Spleen
24	chr8:103612600-103613000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr8:103612600-103613000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:103612600-103613000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:103612600-103613000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:103612600-103613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103612600-103613000	Enhancers	Fetal Thymus	thymus
30	chr8:103612600-103613000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr8:103612600-103613000	Enhancers	Stomach Mucosa	stomach
32	chr8:103612600-103613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:103612600-103613800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:103612600-103613800	Flanking Active TSS	A549	lung
35	chr8:103612600-103614200	Flanking Active TSS	HSMMtube	muscle
36	chr8:103612800-103613000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:103612800-103613000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:103612800-103613000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:103612800-103613000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr8:103612800-103613000	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:103612800-103613000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:103612800-103613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:103612800-103613000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:103612800-103613000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:103612800-103613000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:103612800-103613000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:103612800-103613000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:103612800-103613000	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:103612800-103613000	Active TSS	Brain Hippocampus Middle	brain
50	chr8:103612800-103613000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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