Variant report

Variant	rs1052622
Chromosome Location	chr15:74467856-74467857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74466286..74468382-chr15:74470933..74472488,2	MCF-7	breast:
2	chr15:74466900..74472644-chr15:74474380..74478364,5	K562	blood:
3	chr15:74466900..74472029-chr15:74474380..74478364,5	K562	blood:
4	chr15:74467637..74470186-chr15:74471128..74474134,3	K562	blood:
5	chr15:74465639..74467443-chr15:74467856..74470686,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129009	Chromatin interaction
ENSG00000137868	Chromatin interaction
ENSG00000261543	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10910	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1385650	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351243	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886574	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4887066	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6495089	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs736118	0.82[JPT][hapmap]

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	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74464800-74473600	Enhancers	Right Ventricle	heart
2	chr15:74465000-74470000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr15:74465200-74469200	Weak transcription	Aorta	Aorta
4	chr15:74465200-74472200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:74465200-74473000	Enhancers	Brain Germinal Matrix	brain
6	chr15:74465600-74468000	Enhancers	HSMM	muscle
7	chr15:74465600-74468400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr15:74466000-74468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:74466000-74468800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:74466000-74470000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:74466000-74472000	Enhancers	Placenta	Placenta
12	chr15:74466200-74468600	Weak transcription	Hela-S3	cervix
13	chr15:74466200-74468800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:74466200-74468800	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:74466200-74471600	Weak transcription	Brain Anterior Caudate	brain
16	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:74466400-74468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:74466600-74468200	Active TSS	Colon Smooth Muscle	Colon
19	chr15:74466600-74468600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:74466600-74470000	Weak transcription	Left Ventricle	heart
21	chr15:74466600-74473200	Enhancers	HSMMtube	muscle
22	chr15:74466600-74480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:74466800-74468600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74466800-74469000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:74466800-74469800	Weak transcription	Fetal Heart	heart
26	chr15:74467000-74468400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:74467000-74468400	Weak transcription	Fetal Brain Male	brain
28	chr15:74467000-74468400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr15:74467200-74468200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:74467200-74468400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:74467200-74468400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:74467200-74468400	Weak transcription	Lung	lung
33	chr15:74467200-74468600	Weak transcription	NH-A	brain
34	chr15:74467200-74469000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:74467200-74469200	Weak transcription	A549	lung
36	chr15:74467200-74471000	Enhancers	Fetal Brain Female	brain
37	chr15:74467200-74473600	Enhancers	Right Atrium	heart
38	chr15:74467400-74468000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:74467400-74468000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:74467400-74468200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:74467400-74468200	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr15:74467400-74468200	Genic enhancers	Fetal Lung	lung
43	chr15:74467400-74468400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:74467400-74468400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr15:74467400-74468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:74467400-74469000	Weak transcription	NHLF	lung
47	chr15:74467400-74469000	Weak transcription	Osteobl	bone
48	chr15:74467400-74469400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
49	chr15:74467400-74471200	Weak transcription	Fetal Thymus	thymus
50	chr15:74467400-74471600	Weak transcription	Brain Cingulate Gyrus	brain

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