Variant report

Variant	rs3132613
Chromosome Location	chr6:30537606-30537607
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:30537566-30537734	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30537301..30541414-chr6:30578056..30586798,20	MCF-7	breast:
2	chr6:30537121..30539529-chr6:30708411..30710426,2	MCF-7	breast:
3	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
4	chr6:30455992..30459496-chr6:30536691..30539449,3	K562	blood:
5	chr6:30293693..30295260-chr6:30537467..30539192,2	K562	blood:

No data

Variant related genes	Relation type
ABCF1	TF binding region
ENSG00000222894	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1058318	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264432	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1264437	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1264438	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1264439	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1264440	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1264448	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264456	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1362119	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1468079	0.87[EUR][1000 genomes]
rs2023608	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2023609	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2074503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074505	0.89[EUR][1000 genomes]
rs2252745	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2269709	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269710	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2429655	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2429656	0.80[EUR][1000 genomes]
rs2516639	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516641	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516642	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516643	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516644	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516646	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2516648	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2516649	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2516653	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2516656	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2516662	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524221	0.87[EUR][1000 genomes]
rs2524223	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2524224	0.86[EUR][1000 genomes]
rs2524225	0.82[EUR][1000 genomes]
rs2524226	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534802	0.86[EUR][1000 genomes]
rs2534803	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534804	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534805	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534807	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534808	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534809	0.82[EUR][1000 genomes]
rs2534810	0.86[EUR][1000 genomes]
rs2534813	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534814	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534815	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2534817	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534820	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2534821	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2534823	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534824	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534825	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2844713	0.87[EUR][1000 genomes]
rs2844714	0.87[EUR][1000 genomes]
rs2844715	0.87[EUR][1000 genomes]
rs2844716	0.80[EUR][1000 genomes]
rs2844717	0.86[EUR][1000 genomes]
rs2844718	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844720	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844723	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2844724	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2844725	0.81[EUR][1000 genomes]
rs3094718	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3130039	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130041	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130043	0.86[EUR][1000 genomes]
rs3130045	0.83[EUR][1000 genomes]
rs3130240	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3130242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130243	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130244	0.85[EUR][1000 genomes]
rs3132609	0.87[EUR][1000 genomes]
rs3132612	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3132614	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9262082	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9262118	0.86[EUR][1000 genomes]
rs975195	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs996588	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs996589	0.81[AMR][1000 genomes];0.86[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	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
6	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
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Graves' disease	21900946	GWAS catalog

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30526000-30537800	Weak transcription	Small Intestine	intestine
2	chr6:30526000-30538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30526000-30538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30526200-30538200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:30526400-30538000	Weak transcription	HUVEC	blood vessel
6	chr6:30526400-30538000	Weak transcription	NHDF-Ad	bronchial
7	chr6:30526600-30537800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:30526800-30538200	Weak transcription	Fetal Brain Male	brain
9	chr6:30526800-30538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:30527600-30538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:30530600-30538200	Weak transcription	Esophagus	oesophagus
12	chr6:30530800-30538000	Weak transcription	Right Ventricle	heart
13	chr6:30531000-30537800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30531000-30537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:30531000-30538000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:30531000-30538000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:30531000-30538000	Weak transcription	Aorta	Aorta
18	chr6:30531000-30538000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:30531000-30538000	Weak transcription	HSMMtube	muscle
20	chr6:30531000-30538000	Weak transcription	NHEK	skin
21	chr6:30531000-30538200	Weak transcription	Colonic Mucosa	Colon
22	chr6:30531000-30538200	Weak transcription	Gastric	stomach
23	chr6:30531000-30538400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:30531000-30538400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:30531000-30538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:30531200-30537800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:30531200-30537800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:30531200-30537800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:30531200-30537800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:30531200-30538000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:30531200-30538000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:30531200-30538000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:30531200-30538000	Weak transcription	Fetal Intestine Small	intestine
34	chr6:30531200-30538200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:30531200-30538200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:30531200-30538200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:30531200-30538200	Weak transcription	HMEC	breast
38	chr6:30531200-30538200	Weak transcription	NH-A	brain
39	chr6:30531200-30538200	Weak transcription	NHLF	lung
40	chr6:30531200-30538400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:30531400-30537800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:30531400-30537800	Enhancers	Liver	Liver
43	chr6:30531400-30537800	Weak transcription	Brain Angular Gyrus	brain
44	chr6:30531400-30537800	Weak transcription	Brain Anterior Caudate	brain
45	chr6:30531400-30537800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:30531400-30537800	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:30531400-30537800	Weak transcription	Fetal Lung	lung
48	chr6:30531400-30537800	Weak transcription	Psoas Muscle	Psoas
49	chr6:30531400-30537800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:30531400-30537800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links