Variant report

Variant	rs1058318
Chromosome Location	chr6:30512163-30512164
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30451245..30452270-chr6:30511951..30513069,6	MCF-7	breast:
2	chr6:30462095..30464015-chr6:30511746..30514126,2	K562	blood:
3	chr6:30462887..30464887-chr6:30510637..30512164,2	MCF-7	breast:
4	chr6:30364759..30366950-chr6:30511934..30514120,2	K562	blood:
5	chr6:30510965..30513453-chr6:30582181..30583801,2	MCF-7	breast:
6	chr6:30449964..30450669-chr6:30512141..30513313,6	K562	blood:
7	chr6:30457862..30459531-chr6:30511076..30512616,2	K562	blood:
8	chr6:30475694..30477248-chr6:30510169..30512325,2	MCF-7	breast:
9	chr6:30455622..30459464-chr6:30506814..30514144,13	MCF-7	breast:
10	chr6:30455702..30459362-chr6:30509404..30512768,5	K562	blood:
11	chr6:30510302..30512200-chr6:30697195..30698845,2	K562	blood:
12	chr6:30510952..30513795-chr6:30691840..30693915,2	K562	blood:
13	chr6:30461885..30464563-chr6:30510233..30512351,2	MCF-7	breast:
14	chr10:97489736..97490691-chr6:30511856..30512743,2	MCF-7	breast:
15	chr6:30511425..30515490-chr6:30579291..30582937,6	MCF-7	breast:
16	chr6:30450855..30453185-chr6:30509734..30512303,2	K562	blood:
17	chr6:30511109..30514018-chr6:30576685..30580337,3	MCF-7	breast:
18	chr6:30511514..30514124-chr6:30686846..30689509,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204592	Chromatin interaction
ENSG00000196230	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1264432	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264437	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1264438	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264439	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1264440	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1264448	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1264456	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1362119	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1468079	0.88[EUR][1000 genomes]
rs2023608	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2023609	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074503	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074504	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074505	0.91[EUR][1000 genomes]
rs2252745	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2269709	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2269710	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2429655	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2429656	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2508021	0.80[EUR][1000 genomes]
rs2516639	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2516641	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516642	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516643	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2516644	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516646	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516648	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516649	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516653	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2516656	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516662	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2524221	0.88[EUR][1000 genomes]
rs2524223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2524224	0.87[EUR][1000 genomes]
rs2524225	0.84[EUR][1000 genomes]
rs2524226	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534802	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534803	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534804	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534805	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534806	0.81[EUR][1000 genomes]
rs2534807	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534808	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2534809	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2534810	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534812	0.81[EUR][1000 genomes]
rs2534813	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534814	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534815	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2534817	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534820	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2534821	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534823	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2534824	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2534825	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844713	0.88[EUR][1000 genomes]
rs2844714	0.88[EUR][1000 genomes]
rs2844715	0.88[EUR][1000 genomes]
rs2844716	0.81[EUR][1000 genomes]
rs2844717	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844718	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2844720	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844723	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2844724	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844725	0.82[EUR][1000 genomes]
rs3094718	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130039	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3130041	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130043	0.85[EUR][1000 genomes]
rs3130045	0.83[EUR][1000 genomes]
rs3130240	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130242	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130243	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130244	0.85[EUR][1000 genomes]
rs3132609	0.86[EUR][1000 genomes]
rs3132612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132613	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132614	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9262082	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9262118	0.86[EUR][1000 genomes]
rs975195	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs996588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs996589	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
7	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 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	chr6:30496400-30513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:30497600-30513400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:30505400-30513800	Weak transcription	Gastric	stomach
4	chr6:30509800-30512200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:30509800-30512200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:30509800-30512200	Weak transcription	HSMMtube	muscle
7	chr6:30509800-30512800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:30509800-30513200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:30509800-30513200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:30509800-30513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:30509800-30513400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:30509800-30513400	Weak transcription	Aorta	Aorta
13	chr6:30509800-30513600	Weak transcription	NHLF	lung
14	chr6:30509800-30513800	Weak transcription	Pancreas	Pancrea
15	chr6:30509800-30514000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:30509800-30514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30509800-30514000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:30509800-30514600	Weak transcription	HSMM	muscle
19	chr6:30509800-30516200	Weak transcription	HMEC	breast
20	chr6:30509800-30519600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:30509800-30523000	Weak transcription	A549	lung
22	chr6:30510000-30512200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:30510000-30512200	Weak transcription	NH-A	brain
24	chr6:30510000-30512200	Weak transcription	Osteobl	bone
25	chr6:30510000-30512800	Weak transcription	HepG2	liver
26	chr6:30510000-30513200	Weak transcription	Brain Anterior Caudate	brain
27	chr6:30510000-30513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:30510000-30513400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:30510000-30513400	Weak transcription	Brain Angular Gyrus	brain
30	chr6:30510000-30513400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:30510000-30513600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:30510000-30513600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:30510000-30513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:30510000-30513600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:30510000-30513600	Weak transcription	Psoas Muscle	Psoas
36	chr6:30510000-30513600	Weak transcription	Right Ventricle	heart
37	chr6:30510000-30513800	Weak transcription	Brain Substantia Nigra	brain
38	chr6:30510000-30514000	Weak transcription	Stomach Mucosa	stomach
39	chr6:30510000-30514200	Weak transcription	K562	blood
40	chr6:30510000-30521200	Weak transcription	Hela-S3	cervix
41	chr6:30510000-30522400	Weak transcription	Fetal Heart	heart
42	chr6:30510000-30523000	Weak transcription	Right Atrium	heart
43	chr6:30510200-30512200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:30510200-30512600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:30510200-30512800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:30510200-30512800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:30510200-30513200	Weak transcription	Liver	Liver
48	chr6:30510200-30513200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:30510200-30513400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:30510200-30513400	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links