Variant report

Variant	rs72913991
Chromosome Location	chr4:122685571-122685572
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	chr4:122685570-122685620	ECC-1	luminal epithelium:	n/a
2	chr4:122685570-122685620	Jurkat	blood:	n/a
3	chr4:122685570-122685620	HIPEpiC	eye:	n/a
4	chr4:122685570-122685620	HL-60	blood:	n/a
5	chr4:122685570-122685620	HCPEpiC	choroid plexus:	n/a
6	chr4:122685570-122685620	NT2-D1	testis:	n/a
7	chr4:122685570-122685620	IMR90	lung:	fetal
8	chr4:122685570-122685620	BJ	skin:	n/a
9	chr4:122685570-122685620	HEEpiC	esophagus:	n/a
10	chr4:122685570-122685620	PrEC	prostate:	n/a
11	chr4:122685570-122685620	HNPCEpiC	eye:	n/a
12	chr4:122685570-122685620	K562	blood:	n/a
13	chr4:122685570-122685620	NHBE	bronchial:	n/a
14	chr4:122685570-122685620	T-47D	breast:	n/a
15	chr4:122685570-122685620	ProgFib	skin:	n/a
16	chr4:122685570-122685620	SK-N-SH	brain:	n/a
17	chr4:122685570-122685620	HRCEpiC	kidney:	n/a
18	chr4:122685570-122685620	MCF10A-Er-Src	breast:	n/a
19	chr4:122685570-122685620	HMEC	breast:	n/a
20	chr4:122685570-122685620	AoSMC	blood vessel:	n/a
21	chr4:122685570-122685620	HepG2	liver:	n/a
22	chr4:122685570-122685620	HCT-116	colon:	n/a
23	chr4:122685570-122685620	AG04449	skin:	fetal
24	chr4:122685570-122685620	HRE	kidney:	n/a
25	chr4:122685570-122685620	HRPEpiC	eye:	n/a
26	chr4:122685570-122685620	Hela-S3	cervix:	n/a
27	chr4:122685570-122685620	NB4	blood:	n/a
28	chr4:122685570-122685620	A549	lung:	n/a
29	chr4:122685570-122685620	AG09309	skin:	n/a
30	chr4:122685570-122685620	HAEpiC	amniotic membrane:	n/a
31	chr4:122685570-122685620	HCF	heart:	n/a
32	chr4:122685570-122685620	ovcar-3	ovarian:	n/a
33	chr4:122685570-122685620	NHDF-neo	bronchial:	n/a
34	chr4:122685570-122685620	SAEC	small airway:	n/a
35	chr4:122685570-122685620	RPTEC	kidney:	n/a
36	chr4:122685570-122685620	GM19239	blood:	n/a
37	chr4:122685570-122685620	SK-N-MC	brain:	n/a
38	chr4:122685570-122685620	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:122685570-122685620	Hepatocyte	liver:	n/a
40	chr4:122685570-122685620	SK-N-SH_RA	brain:	n/a
41	chr4:122685570-122685620	SKMC	muscle:	n/a
42	chr4:122685570-122685620	NH-A	brain:	n/a
43	chr4:122685570-122685620	GM12891	blood:	n/a
44	chr4:122685570-122685620	H1-hESC	embryonic stem cell:	embryo
45	chr4:122685570-122685620	PFSK-1	brain:	n/a
46	chr4:122685570-122685620	HUVEC	blood vessel:	n/a
47	chr4:122685570-122685620	U87	brain:	n/a
48	chr4:122685570-122685620	PANC-1	pancreas:	n/a
49	chr4:122685570-122685620	BE2_C	brain:	n/a
50	chr4:122685570-122685620	HCM	heart:	n/a

No data

Variant related genes	Relation type
TMEM155	CpG island
ENSG00000226757	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1803183	1.00[EUR][1000 genomes]
rs3217767	1.00[EUR][1000 genomes]
rs55803709	1.00[EUR][1000 genomes]
rs55936221	1.00[EUR][1000 genomes]
rs61180375	1.00[EUR][1000 genomes]
rs6830453	1.00[EUR][1000 genomes]
rs6854295	1.00[EUR][1000 genomes]
rs72919964	1.00[EUR][1000 genomes]
rs73844292	0.84[AMR][1000 genomes]
rs73844297	1.00[EUR][1000 genomes]
rs73847204	1.00[EUR][1000 genomes]
rs73847205	1.00[EUR][1000 genomes]
rs769245	1.00[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122680600-122685600	Weak transcription	Osteobl	bone
2	chr4:122683800-122685600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:122684800-122685600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr4:122684800-122686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:122685000-122685600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:122685000-122685800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr4:122685000-122687000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:122685200-122685600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:122685200-122685600	Bivalent Enhancer	HUVEC	blood vessel
10	chr4:122685200-122685800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:122685200-122685800	Enhancers	Spleen	Spleen
12	chr4:122685200-122686200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:122685200-122686400	Bivalent Enhancer	Fetal Thymus	thymus
14	chr4:122685200-122686600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr4:122685200-122686600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr4:122685200-122686600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:122685200-122686600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr4:122685200-122686600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr4:122685200-122686600	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr4:122685200-122686800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:122685200-122686800	Active TSS	HSMM	muscle
22	chr4:122685200-122686800	Active TSS	NHLF	lung
23	chr4:122685400-122685600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:122685400-122685600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:122685400-122685600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:122685400-122685600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:122685400-122685600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr4:122685400-122685600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:122685400-122685600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:122685400-122685600	Bivalent Enhancer	Fetal Brain Female	brain
31	chr4:122685400-122685600	Flanking Active TSS	Fetal Heart	heart
32	chr4:122685400-122685600	Bivalent/Poised TSS	Fetal Lung	lung
33	chr4:122685400-122685800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:122685400-122685800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:122685400-122685800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr4:122685400-122685800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:122685400-122686000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr4:122685400-122686000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr4:122685400-122686200	Active TSS	Right Ventricle	heart
40	chr4:122685400-122686400	Bivalent/Poised TSS	Placenta	Placenta
41	chr4:122685400-122686600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:122685400-122687000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr4:122685400-122687000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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