Variant report

Variant	rs73023938
Chromosome Location	chr1:158258366-158258367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
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	WRNIP1	chr1:158258342-158258384	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158258366-158258416	NHBE	bronchial:	n/a
2	chr1:158258366-158258416	HUVEC	blood vessel:	n/a
3	chr1:158258366-158258416	HAEpiC	amniotic membrane:	n/a
4	chr1:158258366-158258416	AG10803	skin:	n/a
5	chr1:158258366-158258416	Jurkat	blood:	n/a
6	chr1:158258366-158258416	MCF10A-Er-Src	breast:	n/a
7	chr1:158258366-158258416	K562	blood:	n/a
8	chr1:158258366-158258416	A549	lung:	n/a
9	chr1:158258366-158258416	HRCEpiC	kidney:	n/a
10	chr1:158258366-158258416	GM12878	blood:	n/a
11	chr1:158258366-158258416	T-47D	breast:	n/a
12	chr1:158258366-158258416	BJ	skin:	n/a
13	chr1:158258366-158258416	GM12892	blood:	n/a
14	chr1:158258366-158258416	PrEC	prostate:	n/a
15	chr1:158258366-158258416	HCM	heart:	n/a
16	chr1:158258366-158258416	SK-N-MC	brain:	n/a
17	chr1:158258366-158258416	ECC-1	luminal epithelium:	n/a
18	chr1:158258366-158258416	AG04449	skin:	fetal
19	chr1:158258366-158258416	NH-A	brain:	n/a
20	chr1:158258366-158258416	HRPEpiC	eye:	n/a
21	chr1:158258366-158258416	HEEpiC	esophagus:	n/a
22	chr1:158258366-158258416	HL-60	blood:	n/a
23	chr1:158258366-158258416	IMR90	lung:	fetal
24	chr1:158258366-158258416	HepG2	liver:	n/a
25	chr1:158258366-158258416	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:158258366-158258416	Caco-2	colon:	n/a
27	chr1:158258366-158258416	PFSK-1	brain:	n/a
28	chr1:158258366-158258416	Hepatocyte	liver:	n/a
29	chr1:158258366-158258416	SK-N-SH	brain:	n/a
30	chr1:158258366-158258416	Hela-S3	cervix:	n/a
31	chr1:158258366-158258416	HMEC	breast:	n/a
32	chr1:158258366-158258416	SAEC	small airway:	n/a
33	chr1:158258366-158258416	HCT-116	colon:	n/a
34	chr1:158258366-158258416	CMK	blood:	n/a
35	chr1:158258366-158258416	PANC-1	pancreas:	n/a
36	chr1:158258366-158258416	MCF-7	breast:	n/a
37	chr1:158258366-158258416	NB4	blood:	n/a
38	chr1:158258366-158258416	GM19239	blood:	n/a
39	chr1:158258366-158258416	GM06990	blood:	n/a
40	chr1:158258366-158258416	AG09309	skin:	n/a
41	chr1:158258366-158258416	AG04450	lung:	fetal
42	chr1:158258366-158258416	SKMC	muscle:	n/a
43	chr1:158258366-158258416	RPTEC	kidney:	n/a
44	chr1:158258366-158258416	NHDF-neo	bronchial:	n/a
45	chr1:158258366-158258416	AG09319	gingival:	n/a
46	chr1:158258366-158258416	LNCaP	prostate:	n/a
47	chr1:158258366-158258416	HEK293	kidney:	embryo
48	chr1:158258366-158258416	AoSMC	blood vessel:	n/a
49	chr1:158258366-158258416	ovcar-3	ovarian:	n/a
50	chr1:158258366-158258416	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
CD1C	TF binding region
CD1C	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16840067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17273762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41362848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41403751	0.80[AFR][1000 genomes]
rs56796126	0.80[AFR][1000 genomes]
rs57616755	0.80[AFR][1000 genomes]
rs58054630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59278565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593488	1.00[AMR][1000 genomes]
rs59802009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60637064	0.80[AFR][1000 genomes]
rs60785165	0.80[AFR][1000 genomes]
rs6656732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021942	0.80[AFR][1000 genomes]
rs73021943	0.80[AFR][1000 genomes]
rs73021951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023949	1.00[AMR][1000 genomes]
rs73023975	1.00[AMR][1000 genomes]
rs7512936	0.80[AFR][1000 genomes]
rs7536443	0.80[AFR][1000 genomes]
rs9658822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9659383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9662642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158253800-158262600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:158254600-158259000	Enhancers	Fetal Thymus	thymus
3	chr1:158255400-158258600	Enhancers	Primary T cells from cord blood	blood
4	chr1:158255600-158259400	Enhancers	Thymus	Thymus
5	chr1:158255800-158259600	Weak transcription	Spleen	Spleen
6	chr1:158256800-158259400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:158257200-158259400	Enhancers	Primary B cells from cord blood	blood
8	chr1:158257200-158259400	Enhancers	GM12878-XiMat	blood
9	chr1:158257200-158259600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:158257200-158264000	Enhancers	Dnd41	blood
11	chr1:158257600-158259600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:158257800-158259400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:158258000-158259000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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