Variant report

Variant	rs74106015
Chromosome Location	chr1:98516754-98516755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:98516672-98516952	K562	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
2	CTCF	chr1:98516605-98517034	GM12878	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
3	RAD21	chr1:98516581-98517026	GM12878	blood:	n/a	chr1:98516804-98516823
4	CTCF	chr1:98516740-98516890	RPTEC	kidney:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
5	CTCF	chr1:98516740-98516890	AG04450	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
6	CTCF	chr1:98516705-98516951	Kidney_OC	kidney:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
7	CTCF	chr1:98516720-98516870	HUVEC	blood vessel:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
8	FOS	chr1:98516643-98516897	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr1:98516680-98516830	A549	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
10	E2F4	chr1:98516578-98516947	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr1:98516740-98516890	GM12872	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
12	CTCF	chr1:98516740-98516890	NHLF	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
13	CTCF	chr1:98516740-98516890	GM12868	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
14	CTCF	chr1:98516702-98516936	HepG2	liver:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
15	CTCF	chr1:98516700-98516850	K562	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
16	CTCF	chr1:98516740-98516890	GM12865	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
17	SMC3	chr1:98516605-98517083	GM12878	blood:	n/a	chr1:98516808-98516822
18	CTCF	chr1:98516740-98516890	GM12874	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
19	CTCF	chr1:98516720-98516870	HPF	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
20	CTCF	chr1:98516561-98517067	HCT-116	colon:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
21	CTCF	chr1:98516613-98516961	A549	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
22	RAD21	chr1:98516464-98517273	A549	lung:	n/a	chr1:98516804-98516823
23	RAD21	chr1:98516433-98517160	HCT-116	colon:	n/a	chr1:98516804-98516823
24	SMC3	chr1:98513270-98517338	SK-N-SH	brain:	n/a	chr1:98516808-98516822
25	CTCF	chr1:98516740-98516890	SAEC	small airway:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
26	CTCF	chr1:98516680-98516944	Hela-S3	cervix:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
27	RAD21	chr1:98516667-98516949	K562	blood:	n/a	chr1:98516804-98516823
28	CTCF	chr1:98516702-98516940	A549	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
29	CTCF	chr1:98516720-98516870	AG10803	skin:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
30	CTCF	chr1:98516710-98516933	Fibrobl	skin:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
31	CTCF	chr1:98516705-98516946	Pancreas_OC	pancreas:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
32	CTCF	chr1:98516720-98516870	GM12870	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
33	CTCF	chr1:98516740-98516890	HCT-116	colon:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
34	CTCF	chr1:98516700-98516850	A549	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
35	TEAD4	chr1:98516558-98516880	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:98516740-98516890	AG10803	skin:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
37	CTCF	chr1:98516740-98516890	HBMEC	blood vessel:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
38	CTCF	chr1:98516706-98516939	GM19240	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
39	CTCF	chr1:98516740-98516890	AG09309	skin:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
40	CTCF	chr1:98516740-98516890	WERI-Rb-1	eye:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
41	CTCF	chr1:98516442-98517282	A549	lung:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
42	CTCF	chr1:98516587-98516948	ECC-1	luminal epithelium:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
43	CTCF	chr1:98516740-98516890	AG04449	skin:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
44	SMC3	chr1:98516628-98516996	HepG2	liver:	n/a	chr1:98516808-98516822
45	CTCF	chr1:98516707-98516937	GM12892	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
46	FOXA2	chr1:98516660-98517177	A549	lung:	n/a	n/a
47	CTCF	chr1:98516720-98516870	GM12872	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
48	CTCF	chr1:98516740-98516890	K562	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
49	CTCF	chr1:98516693-98516948	GM10266	blood:	n/a	chr1:98516814-98516822 chr1:98516806-98516824
50	RAD21	chr1:98516619-98516977	HepG2	liver:	n/a	chr1:98516804-98516823

No.	Distal block	Cell Line	Cell type
1	chr1:98467068..98468153-chr1:98516629..98517318,4	MCF-7	breast:
2	chr1:97516184..97517096-chr1:98516693..98517248,2	MCF-7	breast:
3	chr1:98467177..98468159-chr1:98516336..98516861,2	MCF-7	breast:
4	chr1:98515802..98518516-chr1:98526110..98527932,2	MCF-7	breast:
5	chr1:97603898..97604544-chr1:98516387..98516952,2	MCF-7	breast:

Variant related genes	Relation type
MIR137HG	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10735795	1.00[EUR][1000 genomes]
rs10747494	1.00[EUR][1000 genomes]
rs10875119	1.00[EUR][1000 genomes]
rs11165926	1.00[EUR][1000 genomes]
rs17117438	1.00[EUR][1000 genomes]
rs17117480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117528	1.00[EUR][1000 genomes]
rs4269803	1.00[EUR][1000 genomes]
rs4304628	1.00[EUR][1000 genomes]
rs4351683	1.00[EUR][1000 genomes]
rs4592283	1.00[EUR][1000 genomes]
rs55989986	1.00[EUR][1000 genomes]
rs57177728	1.00[EUR][1000 genomes]
rs57429463	1.00[EUR][1000 genomes]
rs57957567	1.00[EUR][1000 genomes]
rs58211735	1.00[EUR][1000 genomes]
rs58260707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58615096	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59190413	1.00[EUR][1000 genomes]
rs59429666	1.00[EUR][1000 genomes]
rs60366086	1.00[EUR][1000 genomes]
rs60589486	1.00[EUR][1000 genomes]
rs60945684	1.00[EUR][1000 genomes]
rs61234261	1.00[EUR][1000 genomes]
rs61469147	1.00[EUR][1000 genomes]
rs6604092	1.00[EUR][1000 genomes]
rs6604119	1.00[EUR][1000 genomes]
rs74106050	1.00[EUR][1000 genomes]
rs74106053	1.00[EUR][1000 genomes]
rs74106056	1.00[EUR][1000 genomes]
rs74106140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74107135	1.00[EUR][1000 genomes]
rs74107155	1.00[EUR][1000 genomes]
rs74107323	1.00[EUR][1000 genomes]
rs74107325	1.00[EUR][1000 genomes]
rs74107328	1.00[EUR][1000 genomes]
rs74107329	1.00[EUR][1000 genomes]
rs74107330	1.00[EUR][1000 genomes]
rs74107332	1.00[EUR][1000 genomes]
rs74107333	1.00[EUR][1000 genomes]
rs74107505	1.00[EUR][1000 genomes]
rs74107506	1.00[EUR][1000 genomes]
rs74108221	1.00[EUR][1000 genomes]
rs74108407	1.00[EUR][1000 genomes]
rs74110320	1.00[EUR][1000 genomes]
rs74110321	1.00[EUR][1000 genomes]
rs74110322	1.00[EUR][1000 genomes]
rs7511709	1.00[EUR][1000 genomes]
rs7511752	1.00[EUR][1000 genomes]
rs7520550	1.00[EUR][1000 genomes]
rs7553943	1.00[EUR][1000 genomes]
rs9324376	1.00[EUR][1000 genomes]
rs9324377	1.00[EUR][1000 genomes]
rs9661407	1.00[EUR][1000 genomes]
rs9727974	1.00[EUR][1000 genomes]
rs9729900	1.00[EUR][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	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98514400-98517000	Weak transcription	A549	lung
2	chr1:98515200-98519000	Weak transcription	HMEC	breast
3	chr1:98515400-98518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:98515400-98518000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:98515400-98518400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:98515600-98516800	Weak transcription	HUVEC	blood vessel
7	chr1:98515600-98517400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:98515600-98518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:98515600-98518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:98515600-98518000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:98515600-98518000	Weak transcription	NH-A	brain
12	chr1:98515600-98518000	Weak transcription	NHDF-Ad	bronchial
13	chr1:98515600-98518000	Weak transcription	Osteobl	bone
14	chr1:98515600-98518200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:98515600-98518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:98515600-98518800	Weak transcription	HSMM	muscle
17	chr1:98515600-98518800	Weak transcription	HSMMtube	muscle
18	chr1:98516200-98518000	Weak transcription	NHLF	lung
19	chr1:98516400-98517800	Weak transcription	Fetal Brain Female	brain

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