Variant report

Variant	rs595661
Chromosome Location	chr15:42447565-42447566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42445910..42447999-chr15:42452272..42454986,2	K562	blood:
2	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166887	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11070367	1.00[EUR][1000 genomes]
rs11070371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856807	1.00[EUR][1000 genomes]
rs12902924	1.00[EUR][1000 genomes]
rs1530836	1.00[EUR][1000 genomes]
rs1659214	1.00[EUR][1000 genomes]
rs1659216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1659220	1.00[EUR][1000 genomes]
rs1659223	1.00[EUR][1000 genomes]
rs1659225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs2289297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412675	1.00[EUR][1000 genomes]
rs2412676	1.00[EUR][1000 genomes]
rs2412678	1.00[EUR][1000 genomes]
rs2412683	1.00[EUR][1000 genomes]
rs2412684	1.00[EUR][1000 genomes]
rs2412689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412694	1.00[EUR][1000 genomes]
rs2412695	1.00[EUR][1000 genomes]
rs2578651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2620372	1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2899044	1.00[EUR][1000 genomes]
rs4556762	1.00[EUR][1000 genomes]
rs4923936	1.00[EUR][1000 genomes]
rs4923937	1.00[EUR][1000 genomes]
rs4923939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924640	1.00[EUR][1000 genomes]
rs4924641	1.00[EUR][1000 genomes]
rs4924642	1.00[EUR][1000 genomes]
rs4924643	1.00[EUR][1000 genomes]
rs4924649	1.00[EUR][1000 genomes]
rs4924657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924670	1.00[EUR][1000 genomes]
rs5028173	1.00[EUR][1000 genomes]
rs6493024	1.00[EUR][1000 genomes]
rs6493026	1.00[EUR][1000 genomes]
rs6493031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493034	1.00[EUR][1000 genomes]
rs6493038	1.00[EUR][1000 genomes]
rs6493041	1.00[EUR][1000 genomes]
rs655704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67384392	1.00[EUR][1000 genomes]
rs685447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164484	1.00[EUR][1000 genomes]
rs7169553	1.00[EUR][1000 genomes]
rs7170943	1.00[EUR][1000 genomes]
rs7177193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177463	1.00[EUR][1000 genomes]
rs7181758	1.00[AMR][1000 genomes]
rs7182777	1.00[EUR][1000 genomes]
rs7183843	1.00[EUR][1000 genomes]
rs8023568	1.00[EUR][1000 genomes]
rs8023678	1.00[EUR][1000 genomes]
rs8040720	1.00[EUR][1000 genomes]
rs936603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920851	1.00[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv9245	chr15:42441849-42453572	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3361173	chr15:42445160-42449558	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3446241	chr15:42445660-42448658	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42436000-42452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42439400-42451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:42439400-42451800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:42439600-42448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:42441200-42450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:42441800-42451000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:42443400-42447600	Enhancers	Gastric	stomach
8	chr15:42443600-42447600	Enhancers	Colonic Mucosa	Colon
9	chr15:42443800-42448000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr15:42444000-42451600	Weak transcription	HUVEC	blood vessel
11	chr15:42444400-42450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:42444600-42448200	Weak transcription	HSMMtube	muscle
13	chr15:42444600-42450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:42444800-42449800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:42444800-42450200	Weak transcription	Brain Substantia Nigra	brain
16	chr15:42444800-42450200	Weak transcription	HSMM	muscle
17	chr15:42444800-42450600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:42444800-42450600	Weak transcription	Brain Germinal Matrix	brain
19	chr15:42444800-42451000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:42444800-42451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:42444800-42451200	Weak transcription	Aorta	Aorta
22	chr15:42445000-42449800	Weak transcription	Brain Anterior Caudate	brain
23	chr15:42445000-42450000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:42445000-42450000	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:42445000-42450200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:42445000-42451400	Weak transcription	Brain Angular Gyrus	brain
27	chr15:42445400-42451000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:42445400-42451000	Weak transcription	Right Atrium	heart
29	chr15:42445600-42449000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:42445800-42450200	Weak transcription	Psoas Muscle	Psoas
31	chr15:42446000-42450000	Enhancers	Right Ventricle	heart
32	chr15:42446000-42451000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:42446200-42449400	Enhancers	Left Ventricle	heart
34	chr15:42446600-42447600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:42446600-42447800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:42446600-42448800	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:42446600-42450400	Enhancers	Fetal Thymus	thymus
38	chr15:42446600-42451200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:42447000-42447600	Genic enhancers	Esophagus	oesophagus
40	chr15:42447000-42447800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr15:42447000-42447800	Enhancers	Fetal Intestine Large	intestine
42	chr15:42447000-42447800	Enhancers	Fetal Lung	lung
43	chr15:42447000-42447800	Bivalent Enhancer	HepG2	liver
44	chr15:42447000-42448000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr15:42447000-42448200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr15:42447000-42448400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:42447000-42448800	Active TSS	Lung	lung
48	chr15:42447000-42449200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:42447200-42447600	Genic enhancers	Fetal Heart	heart
50	chr15:42447200-42447600	Weak transcription	Fetal Muscle Leg	muscle

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