Variant report

Variant	rs1739510
Chromosome Location	chr2:114393187-114393188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:114392827-114393351	K562	blood:	n/a	n/a
2	CTCF	chr2:114392973-114393243	K562	blood:	n/a	n/a
3	CTCF	chr2:114392973-114393201	HepG2	liver:	n/a	n/a
4	CTCF	chr2:114393013-114393208	A549	lung:	n/a	n/a
5	CTCF	chr2:114392917-114393271	K562	blood:	n/a	n/a
6	CTCF	chr2:114392940-114393207	A549	lung:	n/a	n/a
7	CTCF	chr2:114392932-114393281	K562	blood:	n/a	n/a
8	CTCF	chr2:114392939-114393208	A549	lung:	n/a	n/a
9	CTCF	chr2:114392970-114393239	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:114392913-114393339	A549	lung:	n/a	n/a
11	FOSL2	chr2:114392939-114393217	HepG2	liver:	n/a	n/a
12	CTCF	chr2:114392983-114393223	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114393176-114393226	H1-hESC	embryonic stem cell:	embryo
2	chr2:114393176-114393226	BJ	skin:	n/a
3	chr2:114393176-114393226	NH-A	brain:	n/a
4	chr2:114393176-114393226	HCF	heart:	n/a
5	chr2:114393176-114393226	SK-N-MC	brain:	n/a
6	chr2:114393176-114393226	HRE	kidney:	n/a
7	chr2:114393176-114393226	NB4	blood:	n/a
8	chr2:114393176-114393226	GM19239	blood:	n/a
9	chr2:114393176-114393226	NHDF-neo	bronchial:	n/a
10	chr2:114393176-114393226	BE2_C	brain:	n/a
11	chr2:114393176-114393226	AG09309	skin:	n/a
12	chr2:114393176-114393226	HMEC	breast:	n/a
13	chr2:114393176-114393226	HEEpiC	esophagus:	n/a
14	chr2:114393176-114393226	SAEC	small airway:	n/a
15	chr2:114393176-114393226	CMK	blood:	n/a
16	chr2:114393176-114393226	U87	brain:	n/a
17	chr2:114393176-114393226	HIPEpiC	eye:	n/a
18	chr2:114393176-114393226	PFSK-1	brain:	n/a
19	chr2:114393176-114393226	HEK293	kidney:	embryo
20	chr2:114393176-114393226	SK-N-SH_RA	brain:	n/a
21	chr2:114393176-114393226	HNPCEpiC	eye:	n/a
22	chr2:114393176-114393226	AoSMC	blood vessel:	n/a
23	chr2:114393176-114393226	GM12892	blood:	n/a
24	chr2:114393176-114393226	ECC-1	luminal epithelium:	n/a
25	chr2:114393176-114393226	GM12891	blood:	n/a
26	chr2:114393176-114393226	NT2-D1	testis:	n/a
27	chr2:114393176-114393226	SK-N-SH	brain:	n/a
28	chr2:114393176-114393226	PANC-1	pancreas:	n/a
29	chr2:114393176-114393226	NHBE	bronchial:	n/a
30	chr2:114393176-114393226	Hela-S3	cervix:	n/a
31	chr2:114393176-114393226	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:114393176-114393226	GM12878	blood:	n/a
33	chr2:114393176-114393226	Caco-2	colon:	n/a
34	chr2:114393176-114393226	HRCEpiC	kidney:	n/a
35	chr2:114393176-114393226	ovcar-3	ovarian:	n/a
36	chr2:114393176-114393226	AG04450	lung:	fetal
37	chr2:114393176-114393226	HRPEpiC	eye:	n/a
38	chr2:114393176-114393226	HL-60	blood:	n/a
39	chr2:114393176-114393226	HCT-116	colon:	n/a
40	chr2:114393176-114393226	AG09319	gingival:	n/a
41	chr2:114393176-114393226	IMR90	lung:	fetal
42	chr2:114393176-114393226	Hepatocyte	liver:	n/a
43	chr2:114393176-114393226	LNCaP	prostate:	n/a
44	chr2:114393176-114393226	RPTEC	kidney:	n/a
45	chr2:114393176-114393226	HCPEpiC	choroid plexus:	n/a
46	chr2:114393176-114393226	HepG2	liver:	n/a
47	chr2:114393176-114393226	MCF10A-Er-Src	breast:	n/a
48	chr2:114393176-114393226	A549	lung:	n/a
49	chr2:114393176-114393226	AG10803	skin:	n/a
50	chr2:114393176-114393226	AG04449	skin:	fetal

No data

Variant related genes	Relation type
RABL2A	TF binding region
RABL2A	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1665301	0.85[AMR][1000 genomes]
rs793069	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv961495	chr2:114381866-114415806	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv962001	chr2:114390234-114415806	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1739510	RPL23AP7	cis	Nerve Tibial	GTEx
rs1739510	RPL23AP7	cis	Artery Tibial	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114385200-114393200	Weak transcription	Aorta	Aorta
2	chr2:114385400-114393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:114385400-114393200	Weak transcription	NHDF-Ad	bronchial
4	chr2:114385400-114393400	Weak transcription	Pancreas	Pancrea
5	chr2:114385400-114393800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:114385400-114394000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:114385400-114394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:114385400-114394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:114385400-114395000	Weak transcription	Thymus	Thymus
10	chr2:114385800-114393800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:114385800-114394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:114385800-114394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:114385800-114394200	Weak transcription	A549	lung
14	chr2:114385800-114394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:114385800-114394600	Weak transcription	Colonic Mucosa	Colon
16	chr2:114386000-114393200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:114386000-114393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:114386000-114393400	Weak transcription	Fetal Kidney	kidney
19	chr2:114386000-114393600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:114386000-114393600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:114386000-114393800	Weak transcription	NHEK	skin
22	chr2:114386000-114394000	Weak transcription	Stomach Mucosa	stomach
23	chr2:114386000-114394400	Weak transcription	Gastric	stomach
24	chr2:114386000-114394600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:114386000-114394600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:114386000-114394600	Weak transcription	HSMMtube	muscle
27	chr2:114386000-114394800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:114386200-114393400	Weak transcription	Fetal Lung	lung
29	chr2:114386200-114393800	Weak transcription	Dnd41	blood
30	chr2:114386800-114393400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:114388200-114393400	Strong transcription	Fetal Stomach	stomach
32	chr2:114388600-114400400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:114388800-114393200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:114388800-114393200	Strong transcription	Spleen	Spleen
35	chr2:114390200-114393200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:114390600-114393600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:114390600-114395400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:114391000-114393200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:114391000-114393400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:114391200-114393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:114391600-114393400	Strong transcription	Fetal Intestine Small	intestine
42	chr2:114391600-114394200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:114391600-114394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:114391600-114394800	Weak transcription	Lung	lung
45	chr2:114391800-114393400	Weak transcription	Left Ventricle	heart
46	chr2:114391800-114393400	Strong transcription	Right Ventricle	heart
47	chr2:114391800-114393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:114391800-114393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:114391800-114393400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:114391800-114394600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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