Variant report

Variant	rs7548652
Chromosome Location	chr1:180458724-180458725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180455175..180460174-chr1:180470324..180474422,5	MCF-7	breast:
2	chr1:180455309..180463447-chr1:180464060..180473080,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2764457	0.82[AFR][1000 genomes]
rs55912749	0.92[AFR][1000 genomes]
rs72720928	0.92[AFR][1000 genomes]
rs72720930	0.92[AFR][1000 genomes]
rs7551634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
2	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
6	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
10	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
11	chr1:180437600-180471000	Weak transcription	Lung	lung
12	chr1:180440000-180469000	Weak transcription	HSMMtube	muscle
13	chr1:180440200-180468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:180440200-180469000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:180441800-180462800	Weak transcription	NHLF	lung
16	chr1:180443400-180468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:180444800-180470600	Weak transcription	Esophagus	oesophagus
18	chr1:180447000-180470400	Weak transcription	Colonic Mucosa	Colon
19	chr1:180447800-180469000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:180448400-180470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:180448800-180460800	Weak transcription	Brain Germinal Matrix	brain
22	chr1:180449200-180469000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:180449400-180466800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:180449800-180465600	Weak transcription	Fetal Brain Female	brain
25	chr1:180452000-180461400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:180452000-180465200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:180452000-180469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:180452000-180470000	Weak transcription	Fetal Heart	heart
29	chr1:180452200-180459000	Weak transcription	Osteobl	bone
30	chr1:180452200-180463400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:180452200-180467000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:180452400-180458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:180452400-180460400	Weak transcription	NHDF-Ad	bronchial
34	chr1:180452400-180464000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:180453200-180467400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:180453800-180470600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:180454200-180459000	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:180454200-180459400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:180454200-180461800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:180454200-180462200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:180454200-180463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:180454400-180460600	Strong transcription	Hela-S3	cervix
43	chr1:180454400-180461600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:180454400-180464800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:180454600-180470600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:180454800-180468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:180455000-180468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:180455200-180466600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:180455400-180470000	Weak transcription	Liver	Liver
50	chr1:180455600-180458800	Weak transcription	Placenta	Placenta

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