Variant report

Variant	rs625073
Chromosome Location	chr10:5915356-5915357
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5853596..5857884-chr10:5911550..5919142,12	MCF-7	breast:
2	chr10:5910241..5913072-chr10:5913979..5917301,3	MCF-7	breast:
3	chr10:5912116..5916503-chr10:5917203..5921455,4	K562	blood:
4	chr10:5914288..5916815-chr10:5925333..5927218,2	MCF-7	breast:
5	chr10:5853453..5857248-chr10:5914833..5919853,7	K562	blood:
6	chr10:5853075..5856620-chr10:5914833..5920117,6	K562	blood:
7	chr10:5912116..5915465-chr10:5917203..5919997,3	K562	blood:
8	chr10:5913606..5917218-chr10:5929180..5932208,4	MCF-7	breast:
9	chr10:5910337..5913057-chr10:5913896..5915551,2	K562	blood:
10	chr10:5913737..5922370-chr10:5922961..5932189,19	K562	blood:
11	chr10:5912111..5919800-chr10:5923492..5927477,10	MCF-7	breast:
12	chr10:5816149..5818545-chr10:5914813..5916683,2	MCF-7	breast:
13	chr10:5850191..5852972-chr10:5915096..5916950,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134461	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000270427	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1052420	0.95[ASN][1000 genomes]
rs1707228	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2669124	0.91[ASN][1000 genomes]
rs2761269	0.95[ASN][1000 genomes]
rs2942348	0.95[ASN][1000 genomes]
rs2985043	0.95[ASN][1000 genomes]
rs2985044	0.95[ASN][1000 genomes]
rs584000	0.94[ASN][1000 genomes]
rs587620	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs587655	0.95[ASN][1000 genomes]
rs593026	0.91[ASN][1000 genomes]
rs596156	0.91[ASN][1000 genomes]
rs599394	0.95[ASN][1000 genomes]
rs600706	0.94[ASN][1000 genomes]
rs608197	0.95[ASN][1000 genomes]
rs609269	0.91[ASN][1000 genomes]
rs610335	0.95[ASN][1000 genomes]
rs615879	0.95[ASN][1000 genomes]
rs617165	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs622252	0.95[ASN][1000 genomes]
rs622488	0.95[ASN][1000 genomes]
rs626040	0.95[ASN][1000 genomes]
rs627303	0.95[ASN][1000 genomes]
rs628175	0.94[ASN][1000 genomes]
rs628219	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs628234	0.94[ASN][1000 genomes]
rs628844	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs631538	0.86[ASN][1000 genomes]
rs644474	0.87[ASN][1000 genomes]
rs646406	0.91[ASN][1000 genomes]
rs646490	0.94[ASN][1000 genomes]
rs647391	0.94[ASN][1000 genomes]
rs661411	0.95[ASN][1000 genomes]
rs662701	0.95[ASN][1000 genomes]
rs664577	0.91[ASN][1000 genomes]
rs664842	0.95[ASN][1000 genomes]
rs666831	0.91[ASN][1000 genomes]
rs672219	0.86[ASN][1000 genomes]
rs672624	0.83[ASN][1000 genomes]
rs673496	0.91[ASN][1000 genomes]
rs673678	0.95[ASN][1000 genomes]
rs675416	0.91[ASN][1000 genomes]
rs679610	0.94[ASN][1000 genomes]
rs684557	0.94[ASN][1000 genomes]
rs687191	0.95[ASN][1000 genomes]
rs792342	0.91[ASN][1000 genomes]
rs792347	0.91[ASN][1000 genomes]
rs792349	0.91[ASN][1000 genomes]
rs811561	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9329328	0.91[ASN][1000 genomes]
rs9424023	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv466722	chr10:5893268-5916201	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv549904	chr10:5893268-5916201	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5894600-5916800	Weak transcription	Spleen	Spleen
2	chr10:5896400-5918200	Weak transcription	Fetal Lung	lung
3	chr10:5900000-5916600	Weak transcription	Pancreas	Pancrea
4	chr10:5900400-5916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:5900600-5916200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:5901000-5916600	Weak transcription	Gastric	stomach
7	chr10:5901200-5918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:5901600-5915600	Weak transcription	Brain Anterior Caudate	brain
9	chr10:5902400-5918200	Weak transcription	Primary T cells from cord blood	blood
10	chr10:5902800-5916200	Weak transcription	Fetal Intestine Large	intestine
11	chr10:5902800-5916600	Weak transcription	Brain Substantia Nigra	brain
12	chr10:5902800-5918000	Weak transcription	Lung	lung
13	chr10:5903000-5915400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:5903400-5918200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:5903400-5925000	Weak transcription	Fetal Kidney	kidney
16	chr10:5903600-5916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:5903800-5916000	Weak transcription	NHEK	skin
18	chr10:5903800-5916400	Weak transcription	A549	lung
19	chr10:5903800-5918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:5904400-5916200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:5904400-5916200	Weak transcription	Aorta	Aorta
22	chr10:5904600-5915600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:5904600-5916200	Weak transcription	NHDF-Ad	bronchial
24	chr10:5905000-5916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:5905000-5916200	Weak transcription	Brain Angular Gyrus	brain
26	chr10:5905200-5918200	Weak transcription	HepG2	liver
27	chr10:5908800-5918400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:5909400-5915600	Weak transcription	K562	blood
29	chr10:5909400-5916400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr10:5909400-5918200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:5909600-5924800	Weak transcription	Stomach Mucosa	stomach
32	chr10:5909800-5918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:5910600-5916600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:5911000-5916200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:5911200-5916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:5911200-5918200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:5911400-5916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:5911400-5916200	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:5911400-5918200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:5911600-5915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:5911600-5916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:5911600-5916200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:5911600-5916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:5911600-5916400	Weak transcription	Fetal Brain Female	brain
45	chr10:5911600-5916600	Weak transcription	Brain Germinal Matrix	brain
46	chr10:5911600-5918200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:5911600-5919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:5911600-5926800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:5912000-5916200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:5912200-5916200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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