Variant report

Variant	rs2807662
Chromosome Location	chr1:214782440-214782441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214781612-214782520	A549	lung:	n/a	n/a
2	POLR2A	chr1:214782266-214782475	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:214782228-214782454	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:214782270-214782501	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:214778892-214782541	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214782434-214782484	SAEC	small airway:	n/a
2	chr1:214782434-214782484	AG10803	skin:	n/a
3	chr1:214782434-214782484	HepG2	liver:	n/a
4	chr1:214782434-214782484	H1-hESC	embryonic stem cell:	embryo
5	chr1:214782434-214782484	HAEpiC	amniotic membrane:	n/a
6	chr1:214782434-214782484	HL-60	blood:	n/a
7	chr1:214782434-214782484	HCT-116	colon:	n/a
8	chr1:214782434-214782484	NB4	blood:	n/a
9	chr1:214782434-214782484	AoSMC	blood vessel:	n/a
10	chr1:214782434-214782484	GM12892	blood:	n/a
11	chr1:214782434-214782484	PFSK-1	brain:	n/a
12	chr1:214782434-214782484	GM12891	blood:	n/a
13	chr1:214782434-214782484	RPTEC	kidney:	n/a
14	chr1:214782434-214782484	NHDF-neo	bronchial:	n/a
15	chr1:214782434-214782484	SK-N-SH	brain:	n/a
16	chr1:214782434-214782484	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:214782434-214782484	HCM	heart:	n/a
18	chr1:214782434-214782484	Hela-S3	cervix:	n/a
19	chr1:214782434-214782484	ECC-1	luminal epithelium:	n/a
20	chr1:214782434-214782484	Hepatocyte	liver:	n/a
21	chr1:214782434-214782484	NH-A	brain:	n/a
22	chr1:214782434-214782484	GM06990	blood:	n/a
23	chr1:214782434-214782484	HRE	kidney:	n/a
24	chr1:214782434-214782484	HMEC	breast:	n/a
25	chr1:214782434-214782484	HCF	heart:	n/a
26	chr1:214782434-214782484	SK-N-MC	brain:	n/a
27	chr1:214782434-214782484	CMK	blood:	n/a
28	chr1:214782434-214782484	NHBE	bronchial:	n/a
29	chr1:214782434-214782484	A549	lung:	n/a
30	chr1:214782434-214782484	HIPEpiC	eye:	n/a
31	chr1:214782434-214782484	SKMC	muscle:	n/a
32	chr1:214782434-214782484	HEK293	kidney:	embryo
33	chr1:214782434-214782484	GM12878	blood:	n/a
34	chr1:214782434-214782484	NT2-D1	testis:	n/a
35	chr1:214782434-214782484	GM19239	blood:	n/a
36	chr1:214782434-214782484	ovcar-3	ovarian:	n/a
37	chr1:214782434-214782484	Jurkat	blood:	n/a
38	chr1:214782434-214782484	HEEpiC	esophagus:	n/a
39	chr1:214782434-214782484	AG09319	gingival:	n/a
40	chr1:214782434-214782484	MCF10A-Er-Src	breast:	n/a
41	chr1:214782434-214782484	LNCaP	prostate:	n/a
42	chr1:214782434-214782484	HRPEpiC	eye:	n/a
43	chr1:214782434-214782484	BE2_C	brain:	n/a
44	chr1:214782434-214782484	PrEC	prostate:	n/a
45	chr1:214782434-214782484	MCF-7	breast:	n/a
46	chr1:214782434-214782484	HUVEC	blood vessel:	n/a
47	chr1:214782434-214782484	BJ	skin:	n/a
48	chr1:214782434-214782484	HCPEpiC	choroid plexus:	n/a
49	chr1:214782434-214782484	IMR90	lung:	fetal
50	chr1:214782434-214782484	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:

No data

Variant related genes	Relation type
ABHD17AP3	TF binding region
ABHD17AP3	CpG island
ENSG00000117724	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11801893	0.81[AMR][1000 genomes]
rs12404854	0.82[ASN][1000 genomes]
rs12405890	0.82[ASN][1000 genomes]
rs12405995	0.82[ASN][1000 genomes]
rs12410075	0.82[ASN][1000 genomes]
rs1511049	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1511050	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023274	0.82[ASN][1000 genomes]
rs17023275	0.82[ASN][1000 genomes]
rs2070065	0.88[ASN][1000 genomes]
rs2666834	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2666839	0.88[ASN][1000 genomes]
rs2809588	0.98[ASN][1000 genomes]
rs3748691	0.98[ASN][1000 genomes]
rs3748693	0.88[ASN][1000 genomes]
rs41303281	0.82[ASN][1000 genomes]
rs60944459	0.82[ASN][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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv14763	chr1:214778841-214782576	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv549181	chr1:214780209-214782492	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3427707	chr1:214780854-214783702	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
5	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
9	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
10	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:214778200-214793000	Weak transcription	HSMM	muscle
15	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:214778400-214786600	Weak transcription	Osteobl	bone
19	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:214778600-214782600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:214778600-214782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
24	chr1:214778600-214791200	Weak transcription	NHEK	skin
25	chr1:214778800-214782600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:214778800-214782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:214778800-214782600	Weak transcription	HUVEC	blood vessel
28	chr1:214778800-214782800	Weak transcription	Fetal Brain Female	brain
29	chr1:214778800-214783200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:214778800-214783200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:214778800-214783400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:214778800-214783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:214778800-214786000	Weak transcription	NHDF-Ad	bronchial
34	chr1:214778800-214786600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:214778800-214787600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:214778800-214787800	Weak transcription	HepG2	liver
37	chr1:214778800-214788800	Weak transcription	HMEC	breast
38	chr1:214778800-214794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:214779000-214782800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:214779000-214783200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:214779200-214783000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:214779600-214783200	Strong transcription	Fetal Thymus	thymus
43	chr1:214779800-214783400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:214780800-214782800	Strong transcription	Thymus	Thymus
45	chr1:214780800-214783400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:214780800-214783600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:214780800-214783600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr1:214781000-214783000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:214781000-214783000	Strong transcription	Dnd41	blood
50	chr1:214781000-214783200	Strong transcription	Fetal Muscle Leg	muscle

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