Variant report

Variant	rs58184071
Chromosome Location	chr2:98278435-98278436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:98277387-98280171	K562	blood:	n/a	n/a
2	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:98278016-98282070	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:98278319-98278799	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:98278423-98278851	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:98277989-98281149	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:98278131-98281311	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:98278155-98280984	HepG2	liver:	n/a	n/a
10	MXI1	chr2:98278424-98281242	IMR90	lung:	n/a	chr2:98280539-98280548 chr2:98279430-98279439
11	POLR2A	chr2:98278415-98281290	K562	blood:	n/a	n/a
12	POLR2A	chr2:98278268-98278468	K562	blood:	n/a	n/a
13	POLR2A	chr2:98277921-98278626	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:98278434-98278549	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:98278252-98278751	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98278404-98278454	MCF-7	breast:	n/a
2	chr2:98278404-98278454	K562	blood:	n/a
3	chr2:98278404-98278454	HRCEpiC	kidney:	n/a
4	chr2:98278404-98278454	T-47D	breast:	n/a
5	chr2:98278404-98278454	BE2_C	brain:	n/a
6	chr2:98278404-98278454	Hela-S3	cervix:	n/a
7	chr2:98278404-98278454	GM06990	blood:	n/a
8	chr2:98278404-98278454	H1-hESC	embryonic stem cell:	embryo
9	chr2:98278404-98278454	NHDF-neo	bronchial:	n/a
10	chr2:98278404-98278454	SAEC	small airway:	n/a
11	chr2:98278404-98278454	GM12891	blood:	n/a
12	chr2:98278404-98278454	NT2-D1	testis:	n/a
13	chr2:98278404-98278454	IMR90	lung:	fetal
14	chr2:98278404-98278454	U87	brain:	n/a
15	chr2:98278404-98278454	A549	lung:	n/a
16	chr2:98278404-98278454	AG09309	skin:	n/a
17	chr2:98278404-98278454	HCM	heart:	n/a
18	chr2:98278404-98278454	HEK293	kidney:	embryo
19	chr2:98278404-98278454	SK-N-SH_RA	brain:	n/a
20	chr2:98278404-98278454	HIPEpiC	eye:	n/a
21	chr2:98278404-98278454	ECC-1	luminal epithelium:	n/a
22	chr2:98278404-98278454	PANC-1	pancreas:	n/a
23	chr2:98278404-98278454	BJ	skin:	n/a
24	chr2:98278404-98278454	LNCaP	prostate:	n/a
25	chr2:98278404-98278454	HCPEpiC	choroid plexus:	n/a
26	chr2:98278404-98278454	HUVEC	blood vessel:	n/a
27	chr2:98278404-98278454	NHBE	bronchial:	n/a
28	chr2:98278404-98278454	HAEpiC	amniotic membrane:	n/a
29	chr2:98278404-98278454	CMK	blood:	n/a
30	chr2:98278404-98278454	SK-N-MC	brain:	n/a
31	chr2:98278404-98278454	RPTEC	kidney:	n/a
32	chr2:98278404-98278454	ovcar-3	ovarian:	n/a
33	chr2:98278404-98278454	AG04449	skin:	fetal
34	chr2:98278404-98278454	SK-N-SH	brain:	n/a
35	chr2:98278404-98278454	NH-A	brain:	n/a
36	chr2:98278404-98278454	HNPCEpiC	eye:	n/a
37	chr2:98278404-98278454	HepG2	liver:	n/a
38	chr2:98278404-98278454	PFSK-1	brain:	n/a
39	chr2:98278404-98278454	AG10803	skin:	n/a
40	chr2:98278404-98278454	HRE	kidney:	n/a
41	chr2:98278404-98278454	MCF10A-Er-Src	breast:	n/a
42	chr2:98278404-98278454	NB4	blood:	n/a
43	chr2:98278404-98278454	HL-60	blood:	n/a
44	chr2:98278404-98278454	Hepatocyte	liver:	n/a
45	chr2:98278404-98278454	HCF	heart:	n/a
46	chr2:98278404-98278454	HRPEpiC	eye:	n/a
47	chr2:98278404-98278454	AG04450	lung:	fetal
48	chr2:98278404-98278454	Jurkat	blood:	n/a
49	chr2:98278404-98278454	AoSMC	blood vessel:	n/a
50	chr2:98278404-98278454	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:98278220..98280235-chr2:98364964..98367550,2	K562	blood:
2	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:
3	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
4	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC01125	TF binding region
ACTR1B	TF binding region
ACTR1B	CpG island
LINC01125	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2071038	1.00[AMR][1000 genomes]
rs2290123	1.00[AMR][1000 genomes]
rs2922614	1.00[AMR][1000 genomes]
rs4069515	1.00[AMR][1000 genomes]
rs58738348	1.00[AMR][1000 genomes]
rs59168350	1.00[AMR][1000 genomes]
rs59523945	1.00[AMR][1000 genomes]
rs60753457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043662	1.00[AMR][1000 genomes]
rs6542982	1.00[AMR][1000 genomes]
rs6716208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6753752	1.00[AMR][1000 genomes]
rs72942846	1.00[AMR][1000 genomes]
rs72942852	1.00[AMR][1000 genomes]
rs72942859	1.00[AMR][1000 genomes]
rs72942873	1.00[AMR][1000 genomes]
rs72946446	1.00[AMR][1000 genomes]
rs72946451	1.00[AMR][1000 genomes]
rs72947032	1.00[AMR][1000 genomes]
rs72947033	1.00[AMR][1000 genomes]
rs72947062	1.00[AMR][1000 genomes]
rs72949064	1.00[AMR][1000 genomes]
rs72949085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949092	1.00[AMR][1000 genomes]
rs72949095	1.00[AMR][1000 genomes]
rs7563002	1.00[AMR][1000 genomes]
rs7608385	1.00[AMR][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98271400-98278600	Weak transcription	Fetal Kidney	kidney
2	chr2:98271400-98278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98275200-98278800	Enhancers	Fetal Heart	heart
4	chr2:98275400-98278800	Weak transcription	A549	lung
5	chr2:98275400-98279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:98275800-98278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:98276000-98279400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:98276200-98278600	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr2:98276200-98278600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:98276200-98279200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:98276600-98278600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:98276600-98278800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:98276600-98278800	Enhancers	HSMMtube	muscle
14	chr2:98276800-98278600	Enhancers	NH-A	brain
15	chr2:98276800-98278800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:98276800-98279000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:98277000-98278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:98277000-98278600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:98277000-98278600	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:98277000-98279000	Enhancers	Left Ventricle	heart
21	chr2:98277000-98279000	Enhancers	Ovary	ovary
22	chr2:98277200-98278600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:98277200-98278600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:98277200-98278800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:98277200-98278800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:98277200-98278800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:98277200-98278800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr2:98277200-98279000	Enhancers	HUVEC	blood vessel
29	chr2:98277400-98278600	Enhancers	Brain Hippocampus Middle	brain
30	chr2:98277400-98278800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:98277400-98278800	Enhancers	Adipose Nuclei	Adipose
32	chr2:98277400-98279000	Genic enhancers	Fetal Stomach	stomach
33	chr2:98277400-98279000	Enhancers	Right Atrium	heart
34	chr2:98277400-98279400	Weak transcription	Aorta	Aorta
35	chr2:98277600-98278600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:98277600-98278800	Enhancers	Small Intestine	intestine
37	chr2:98277600-98279000	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:98277600-98279000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:98277600-98279200	Enhancers	Pancreas	Pancrea
40	chr2:98277600-98279400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr2:98277800-98278600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:98277800-98278600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:98277800-98278600	Weak transcription	Colonic Mucosa	Colon
44	chr2:98277800-98278600	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:98277800-98278600	Enhancers	Right Ventricle	heart
46	chr2:98277800-98278600	Enhancers	NHLF	lung
47	chr2:98277800-98278800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:98277800-98278800	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:98277800-98278800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:98277800-98278800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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