Variant report

Variant	rs60538892
Chromosome Location	chr8:103794384-103794385
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: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	chr8:103793293..103798105-chr8:103798745..103802952,14	MCF-7	breast:
2	chr8:103786719..103790690-chr8:103792046..103795484,6	MCF-7	breast:
3	chr8:103672477..103675226-chr8:103793415..103795051,2	MCF-7	breast:
4	chr8:103793090..103794674-chr8:103795645..103798018,2	MCF-7	breast:
5	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
6	chr8:103793774..103795372-chr8:103823540..103825118,2	MCF-7	breast:
7	chr8:103676147..103677915-chr8:103792093..103794754,2	K562	blood:
8	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
9	chr8:103782079..103784444-chr8:103794138..103796323,2	MCF-7	breast:
10	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1469767	1.00[EUR][1000 genomes]
rs28625448	1.00[EUR][1000 genomes]
rs28649644	1.00[EUR][1000 genomes]
rs28664674	1.00[EUR][1000 genomes]
rs56720100	1.00[EUR][1000 genomes]
rs56724276	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60587672	1.00[EUR][1000 genomes]
rs73278866	1.00[EUR][1000 genomes]
rs73278868	1.00[EUR][1000 genomes]
rs73278883	0.85[AFR][1000 genomes]
rs73278884	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278887	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7827032	1.00[EUR][1000 genomes]
rs7839128	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103780600-103794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:103782800-103794600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:103786800-103801000	Weak transcription	Small Intestine	intestine
4	chr8:103787200-103799800	Weak transcription	HMEC	breast
5	chr8:103787800-103795000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:103789200-103794400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:103789200-103794600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103789200-103795000	Weak transcription	K562	blood
9	chr8:103789200-103800400	Weak transcription	Gastric	stomach
10	chr8:103789400-103794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:103789400-103794800	Weak transcription	Esophagus	oesophagus
12	chr8:103789400-103800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:103789400-103800400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:103789600-103794800	Weak transcription	Fetal Lung	lung
15	chr8:103789600-103794800	Weak transcription	Left Ventricle	heart
16	chr8:103792800-103797400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:103793000-103796200	Enhancers	Placenta	Placenta
18	chr8:103793200-103795600	Enhancers	Fetal Muscle Leg	muscle
19	chr8:103793200-103795800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:103793400-103795200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:103793400-103795800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:103793400-103795800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:103793400-103795800	Enhancers	Adipose Nuclei	Adipose
24	chr8:103793400-103796200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:103793400-103796400	Enhancers	A549	lung
26	chr8:103793600-103794400	Enhancers	Right Atrium	heart
27	chr8:103793600-103795000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:103793600-103795000	Enhancers	Fetal Stomach	stomach
29	chr8:103793600-103795800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:103793600-103795800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:103793600-103795800	Enhancers	Pancreas	Pancrea
32	chr8:103793600-103795800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:103793600-103796000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:103793600-103796400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:103793600-103797600	Enhancers	Spleen	Spleen
36	chr8:103793600-103800800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:103793800-103794400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:103793800-103794800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:103793800-103795000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:103793800-103795000	Enhancers	Lung	lung
41	chr8:103793800-103795000	Enhancers	Stomach Smooth Muscle	stomach
42	chr8:103793800-103795200	Enhancers	Aorta	Aorta
43	chr8:103793800-103795400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:103793800-103795600	Enhancers	Right Ventricle	heart
45	chr8:103793800-103795800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:103793800-103795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:103793800-103796000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:103793800-103796000	Enhancers	Osteobl	bone
49	chr8:103793800-103796200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:103794000-103794800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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