Variant report

Variant	rs7533656
Chromosome Location	chr1:152196717-152196718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152196674-152196724	AG09319	gingival:	n/a
2	chr1:152196674-152196724	GM12891	blood:	n/a
3	chr1:152196674-152196724	HUVEC	blood vessel:	n/a
4	chr1:152196674-152196724	GM12878	blood:	n/a
5	chr1:152196674-152196724	GM12892	blood:	n/a
6	chr1:152196674-152196724	HIPEpiC	eye:	n/a
7	chr1:152196674-152196724	PFSK-1	brain:	n/a
8	chr1:152196674-152196724	Jurkat	blood:	n/a
9	chr1:152196674-152196724	NHDF-neo	bronchial:	n/a
10	chr1:152196674-152196724	HRE	kidney:	n/a
11	chr1:152196674-152196724	ECC-1	luminal epithelium:	n/a
12	chr1:152196674-152196724	HCPEpiC	choroid plexus:	n/a
13	chr1:152196674-152196724	RPTEC	kidney:	n/a
14	chr1:152196674-152196724	HL-60	blood:	n/a
15	chr1:152196674-152196724	HEEpiC	esophagus:	n/a
16	chr1:152196674-152196724	Hela-S3	cervix:	n/a
17	chr1:152196674-152196724	H1-hESC	embryonic stem cell:	embryo
18	chr1:152196674-152196724	BE2_C	brain:	n/a
19	chr1:152196674-152196724	HCM	heart:	n/a
20	chr1:152196674-152196724	GM19239	blood:	n/a
21	chr1:152196674-152196724	NH-A	brain:	n/a
22	chr1:152196674-152196724	A549	lung:	n/a
23	chr1:152196674-152196724	MCF-7	breast:	n/a
24	chr1:152196674-152196724	NB4	blood:	n/a
25	chr1:152196674-152196724	SK-N-SH	brain:	n/a
26	chr1:152196674-152196724	HCT-116	colon:	n/a
27	chr1:152196674-152196724	AG04450	lung:	fetal
28	chr1:152196674-152196724	Hepatocyte	liver:	n/a
29	chr1:152196674-152196724	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:152196674-152196724	ovcar-3	ovarian:	n/a
31	chr1:152196674-152196724	CMK	blood:	n/a
32	chr1:152196674-152196724	IMR90	lung:	fetal
33	chr1:152196674-152196724	GM06990	blood:	n/a
34	chr1:152196674-152196724	AG04449	skin:	fetal
35	chr1:152196674-152196724	SKMC	muscle:	n/a
36	chr1:152196674-152196724	ProgFib	skin:	n/a
37	chr1:152196674-152196724	AG09309	skin:	n/a
38	chr1:152196674-152196724	SK-N-MC	brain:	n/a
39	chr1:152196674-152196724	HepG2	liver:	n/a
40	chr1:152196674-152196724	AoSMC	blood vessel:	n/a
41	chr1:152196674-152196724	NT2-D1	testis:	n/a
42	chr1:152196674-152196724	PANC-1	pancreas:	n/a
43	chr1:152196674-152196724	MCF10A-Er-Src	breast:	n/a
44	chr1:152196674-152196724	T-47D	breast:	n/a
45	chr1:152196674-152196724	Caco-2	colon:	n/a
46	chr1:152196674-152196724	SK-N-SH_RA	brain:	n/a
47	chr1:152196674-152196724	AG10803	skin:	n/a
48	chr1:152196674-152196724	HRCEpiC	kidney:	n/a
49	chr1:152196674-152196724	PrEC	prostate:	n/a
50	chr1:152196674-152196724	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
HRNR	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10749672	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10788829	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888474	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204940	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466758	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1532400	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2036101	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4333850	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4548447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845735	0.83[AMR][1000 genomes]
rs4845738	0.83[AMR][1000 genomes]
rs6587648	0.83[AMR][1000 genomes]
rs6587649	0.83[AMR][1000 genomes]
rs6587653	0.83[AMR][1000 genomes]
rs6587655	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520132	0.83[AMR][1000 genomes]
rs7523354	0.84[AFR][1000 genomes]
rs7534986	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550091	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv19713	chr1:152185869-152196724	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152191600-152197200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:152192600-152197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152194600-152198400	Weak transcription	Left Ventricle	heart
4	chr1:152196200-152197800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152196200-152197800	Weak transcription	HMEC	breast
6	chr1:152196400-152197800	Weak transcription	NHEK	skin

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