Variant report

Variant	rs673678
Chromosome Location	chr10:5918035-5918036
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5853596..5857884-chr10:5911550..5919142,12	MCF-7	breast:
2	chr10:5853453..5857248-chr10:5914833..5919853,7	K562	blood:
3	chr10:5853075..5856620-chr10:5914833..5920117,6	K562	blood:
4	chr10:5915609..5918597-chr10:5924591..5926431,2	K562	blood:
5	chr10:5912116..5916503-chr10:5917203..5921455,4	K562	blood:
6	chr10:5917302..5921893-chr10:5926757..5932751,9	MCF-7	breast:
7	chr10:5853771..5858349-chr10:5915568..5920799,8	MCF-7	breast:
8	chr10:5916960..5919162-chr10:5939258..5940829,2	K562	blood:
9	chr10:5729799..5732173-chr10:5916064..5918790,2	MCF-7	breast:
10	chr10:5913737..5922370-chr10:5922961..5932189,19	K562	blood:
11	chr10:5912111..5919800-chr10:5923492..5927477,10	MCF-7	breast:
12	chr10:5912116..5915465-chr10:5917203..5919997,3	K562	blood:

No data

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

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1052420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323659	0.85[EUR][1000 genomes]
rs1707228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2669124	0.96[ASN][1000 genomes]
rs2761269	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985044	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584000	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587655	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593026	0.96[ASN][1000 genomes]
rs596156	0.96[ASN][1000 genomes]
rs599394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608197	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609269	0.96[ASN][1000 genomes]
rs610335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615879	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622488	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625073	0.95[ASN][1000 genomes]
rs626040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628219	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628234	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628844	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631538	0.88[ASN][1000 genomes]
rs631947	0.85[EUR][1000 genomes]
rs644474	0.91[ASN][1000 genomes]
rs646406	0.96[ASN][1000 genomes]
rs646490	0.99[ASN][1000 genomes]
rs647391	0.99[ASN][1000 genomes]
rs661411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664577	0.96[ASN][1000 genomes]
rs664842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666831	0.96[ASN][1000 genomes]
rs672219	0.88[ASN][1000 genomes]
rs672624	0.85[ASN][1000 genomes]
rs673496	0.96[ASN][1000 genomes]
rs675416	0.96[ASN][1000 genomes]
rs679610	0.99[ASN][1000 genomes]
rs682555	0.86[EUR][1000 genomes]
rs684557	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792342	0.96[ASN][1000 genomes]
rs792347	0.96[ASN][1000 genomes]
rs792349	0.96[ASN][1000 genomes]
rs811561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329328	0.96[ASN][1000 genomes]
rs9424023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5896400-5918200	Weak transcription	Fetal Lung	lung
2	chr10:5901200-5918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:5902400-5918200	Weak transcription	Primary T cells from cord blood	blood
4	chr10:5903400-5918200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:5903400-5925000	Weak transcription	Fetal Kidney	kidney
6	chr10:5903800-5918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:5905200-5918200	Weak transcription	HepG2	liver
8	chr10:5908800-5918400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:5909400-5918200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:5909600-5924800	Weak transcription	Stomach Mucosa	stomach
11	chr10:5909800-5918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:5911200-5918200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:5911400-5918200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:5911600-5918200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:5911600-5919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:5911600-5926800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:5912600-5918200	Weak transcription	HMEC	breast
18	chr10:5913000-5918200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:5913000-5929800	Weak transcription	Fetal Heart	heart
20	chr10:5913000-5929800	Weak transcription	Psoas Muscle	Psoas
21	chr10:5913800-5918200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:5913800-5918200	Weak transcription	NH-A	brain
23	chr10:5914000-5918200	Weak transcription	Osteobl	bone
24	chr10:5914000-5929600	Weak transcription	NHLF	lung
25	chr10:5914400-5918200	Weak transcription	Fetal Thymus	thymus
26	chr10:5914600-5918400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:5915600-5918200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:5915600-5924400	Weak transcription	Fetal Brain Male	brain
29	chr10:5915600-5930000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:5915600-5930000	Weak transcription	HUVEC	blood vessel
31	chr10:5915800-5918200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:5915800-5918200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:5915800-5918200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:5915800-5918200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:5915800-5918200	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:5915800-5918200	Weak transcription	Dnd41	blood
37	chr10:5915800-5919600	Weak transcription	Hela-S3	cervix
38	chr10:5915800-5920000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr10:5915800-5930000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:5915800-5930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr10:5916000-5918200	Weak transcription	HSMM	muscle
42	chr10:5916000-5921000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:5916200-5918200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:5916200-5918200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:5916200-5918200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:5916200-5918400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:5916200-5919200	Strong transcription	Aorta	Aorta
48	chr10:5916200-5920400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr10:5916200-5920600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr10:5916200-5921200	Strong transcription	Colon Smooth Muscle	Colon

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