Variant report

Variant	rs56111669
Chromosome Location	chr8:103380847-103380848
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103380392..103382334-chr8:103384411..103387288,2	MCF-7	breast:
2	chr8:103379514..103381980-chr8:103423454..103426226,2	MCF-7	breast:
3	chr8:103366046..103370520-chr8:103377083..103381143,4	MCF-7	breast:
4	chr8:103379226..103381573-chr8:103382317..103384818,2	MCF-7	breast:
5	chr8:103379431..103380944-chr8:103665096..103666720,2	MCF-7	breast:
6	chr8:103373137..103374720-chr8:103379453..103382048,2	MCF-7	breast:
7	chr8:103379043..103381302-chr8:103397791..103399333,2	MCF-7	breast:
8	chr8:103378323..103381200-chr8:103540382..103542243,2	K562	blood:
9	chr8:103379017..103382003-chr8:103394595..103396519,2	K562	blood:
10	chr8:103374347..103376516-chr8:103379553..103381548,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10505022	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505025	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10505027	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955285	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434675	0.82[EUR][1000 genomes]
rs17511370	0.92[ASN][1000 genomes]
rs17512186	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297255	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4130534	0.83[ASN][1000 genomes]
rs4489304	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56096838	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56152628	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56371583	0.83[ASN][1000 genomes]
rs6468830	0.83[ASN][1000 genomes]
rs72681171	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72681179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681190	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72681191	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681196	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681200	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681202	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	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
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103365400-103387800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103365800-103387600	Weak transcription	Fetal Heart	heart
3	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
4	chr8:103370000-103386000	Weak transcription	NHEK	skin
5	chr8:103371600-103387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:103371600-103394400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:103372400-103381600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:103372400-103388200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:103372400-103394200	Weak transcription	Thymus	Thymus
10	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
11	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
12	chr8:103372600-103393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:103372600-103393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:103372800-103387800	Weak transcription	HMEC	breast
15	chr8:103372800-103394200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:103372800-103394400	Weak transcription	Brain Germinal Matrix	brain
17	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
19	chr8:103373000-103394400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:103373000-103395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:103373000-103395400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:103373200-103382000	Weak transcription	NH-A	brain
24	chr8:103373200-103387600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
26	chr8:103373400-103387200	Weak transcription	Placenta	Placenta
27	chr8:103373400-103388000	Weak transcription	HSMM	muscle
28	chr8:103373400-103394200	Weak transcription	Primary T cells from cord blood	blood
29	chr8:103373400-103394200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:103373600-103394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:103374400-103386600	Weak transcription	Dnd41	blood
32	chr8:103376600-103388000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:103377600-103387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:103377800-103381000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:103377800-103382200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:103378000-103381000	Enhancers	Adipose Nuclei	Adipose
37	chr8:103378000-103381000	Enhancers	Colon Smooth Muscle	Colon
38	chr8:103378400-103381200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:103378400-103381400	Enhancers	HUVEC	blood vessel
40	chr8:103379000-103381800	Weak transcription	Fetal Brain Male	brain
41	chr8:103379000-103382200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:103379200-103381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:103379200-103382400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:103379400-103381000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:103379400-103381000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:103379400-103381000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:103379400-103381000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:103379400-103381000	Enhancers	Gastric	stomach
49	chr8:103379400-103381000	Enhancers	Pancreas	Pancrea
50	chr8:103379400-103381000	Enhancers	Psoas Muscle	Psoas

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