Variant report

Variant	rs72913994
Chromosome Location	chr4:122688021-122688022
allele	A/G
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	chr4:122687996-122688046	AG09319	gingival:	n/a
2	chr4:122687996-122688046	RPTEC	kidney:	n/a
3	chr4:122687996-122688046	AG04449	skin:	fetal
4	chr4:122687996-122688046	AG04450	lung:	fetal
5	chr4:122687996-122688046	GM12892	blood:	n/a
6	chr4:122687996-122688046	ECC-1	luminal epithelium:	n/a
7	chr4:122687996-122688046	HepG2	liver:	n/a
8	chr4:122687996-122688046	HMEC	breast:	n/a
9	chr4:122687996-122688046	K562	blood:	n/a
10	chr4:122687996-122688046	Caco-2	colon:	n/a
11	chr4:122687996-122688046	PANC-1	pancreas:	n/a
12	chr4:122687996-122688046	HEEpiC	esophagus:	n/a
13	chr4:122687996-122688046	AG09309	skin:	n/a
14	chr4:122687996-122688046	NHBE	bronchial:	n/a
15	chr4:122687996-122688046	PFSK-1	brain:	n/a
16	chr4:122687996-122688046	NHDF-neo	bronchial:	n/a
17	chr4:122687996-122688046	AoSMC	blood vessel:	n/a
18	chr4:122687996-122688046	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:122687996-122688046	HCM	heart:	n/a
20	chr4:122687996-122688046	BE2_C	brain:	n/a
21	chr4:122687996-122688046	HEK293	kidney:	embryo
22	chr4:122687996-122688046	ovcar-3	ovarian:	n/a
23	chr4:122687996-122688046	ProgFib	skin:	n/a
24	chr4:122687996-122688046	MCF10A-Er-Src	breast:	n/a
25	chr4:122687996-122688046	HCT-116	colon:	n/a
26	chr4:122687996-122688046	SKMC	muscle:	n/a
27	chr4:122687996-122688046	AG10803	skin:	n/a
28	chr4:122687996-122688046	HCF	heart:	n/a
29	chr4:122687996-122688046	GM12878	blood:	n/a
30	chr4:122687996-122688046	HRE	kidney:	n/a
31	chr4:122687996-122688046	HUVEC	blood vessel:	n/a
32	chr4:122687996-122688046	SAEC	small airway:	n/a
33	chr4:122687996-122688046	H1-hESC	embryonic stem cell:	embryo
34	chr4:122687996-122688046	Hepatocyte	liver:	n/a
35	chr4:122687996-122688046	MCF-7	breast:	n/a
36	chr4:122687996-122688046	SK-N-SH_RA	brain:	n/a
37	chr4:122687996-122688046	NT2-D1	testis:	n/a
38	chr4:122687996-122688046	PrEC	prostate:	n/a
39	chr4:122687996-122688046	HRCEpiC	kidney:	n/a
40	chr4:122687996-122688046	U87	brain:	n/a
41	chr4:122687996-122688046	HL-60	blood:	n/a
42	chr4:122687996-122688046	HNPCEpiC	eye:	n/a
43	chr4:122687996-122688046	SK-N-MC	brain:	n/a
44	chr4:122687996-122688046	Jurkat	blood:	n/a
45	chr4:122687996-122688046	CMK	blood:	n/a
46	chr4:122687996-122688046	BJ	skin:	n/a
47	chr4:122687996-122688046	A549	lung:	n/a
48	chr4:122687996-122688046	HRPEpiC	eye:	n/a
49	chr4:122687996-122688046	HAEpiC	amniotic membrane:	n/a
50	chr4:122687996-122688046	GM19239	blood:	n/a

No data

Variant related genes	Relation type
TMEM155	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10001422	0.97[EUR][1000 genomes]
rs10011665	0.97[EUR][1000 genomes]
rs10470915	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10471016	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11930525	1.00[EUR][1000 genomes]
rs11937861	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947643	0.89[EUR][1000 genomes]
rs1574283	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051397	0.88[EUR][1000 genomes]
rs17051398	0.90[EUR][1000 genomes]
rs28515183	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28676474	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903026	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4077754	0.85[EUR][1000 genomes]
rs4309856	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4508913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522884	0.90[EUR][1000 genomes]
rs4571354	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030020	0.81[EUR][1000 genomes]
rs56221685	0.87[EUR][1000 genomes]
rs57312551	0.95[EUR][1000 genomes]
rs58127039	0.97[EUR][1000 genomes]
rs59796939	0.90[EUR][1000 genomes]
rs61665948	0.85[EUR][1000 genomes]
rs6534322	0.86[EUR][1000 genomes]
rs6823340	0.87[EUR][1000 genomes]
rs6825926	0.81[EUR][1000 genomes]
rs6858061	0.87[EUR][1000 genomes]
rs72915905	0.89[EUR][1000 genomes]
rs73844293	0.87[EUR][1000 genomes]
rs73844294	0.87[EUR][1000 genomes]
rs7661218	0.87[EUR][1000 genomes]
rs7684547	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122686800-122689600	Weak transcription	Ovary	ovary
2	chr4:122687600-122689200	Weak transcription	NHDF-Ad	bronchial
3	chr4:122687600-122695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122688000-122688400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links