Variant report

Variant	rs2793379
Chromosome Location	chr1:226596686-226596687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:226593026-226596854	K562	blood:	n/a	n/a
2	POLR2A	chr1:226596624-226596725	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226596668-226596718	HAEpiC	amniotic membrane:	n/a
2	chr1:226596668-226596718	HEK293	kidney:	embryo
3	chr1:226596668-226596718	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:226596668-226596718	PrEC	prostate:	n/a
5	chr1:226596668-226596718	GM12878	blood:	n/a
6	chr1:226596668-226596718	MCF10A-Er-Src	breast:	n/a
7	chr1:226596668-226596718	HL-60	blood:	n/a
8	chr1:226596668-226596718	GM19239	blood:	n/a
9	chr1:226596668-226596718	GM12892	blood:	n/a
10	chr1:226596668-226596718	HCM	heart:	n/a
11	chr1:226596668-226596718	HEEpiC	esophagus:	n/a
12	chr1:226596668-226596718	ECC-1	luminal epithelium:	n/a
13	chr1:226596668-226596718	SK-N-SH_RA	brain:	n/a
14	chr1:226596668-226596718	H1-hESC	embryonic stem cell:	embryo
15	chr1:226596668-226596718	NHBE	bronchial:	n/a
16	chr1:226596668-226596718	HNPCEpiC	eye:	n/a
17	chr1:226596668-226596718	ProgFib	skin:	n/a
18	chr1:226596668-226596718	HIPEpiC	eye:	n/a
19	chr1:226596668-226596718	HMEC	breast:	n/a
20	chr1:226596668-226596718	RPTEC	kidney:	n/a
21	chr1:226596668-226596718	Hela-S3	cervix:	n/a
22	chr1:226596668-226596718	ovcar-3	ovarian:	n/a
23	chr1:226596668-226596718	NT2-D1	testis:	n/a
24	chr1:226596668-226596718	Jurkat	blood:	n/a
25	chr1:226596668-226596718	SKMC	muscle:	n/a
26	chr1:226596668-226596718	NHDF-neo	bronchial:	n/a
27	chr1:226596668-226596718	GM12891	blood:	n/a
28	chr1:226596668-226596718	NH-A	brain:	n/a
29	chr1:226596668-226596718	CMK	blood:	n/a
30	chr1:226596668-226596718	AG04449	skin:	fetal
31	chr1:226596668-226596718	HRPEpiC	eye:	n/a
32	chr1:226596668-226596718	IMR90	lung:	fetal
33	chr1:226596668-226596718	PANC-1	pancreas:	n/a
34	chr1:226596668-226596718	Hepatocyte	liver:	n/a
35	chr1:226596668-226596718	AG10803	skin:	n/a
36	chr1:226596668-226596718	MCF-7	breast:	n/a
37	chr1:226596668-226596718	A549	lung:	n/a
38	chr1:226596668-226596718	SK-N-MC	brain:	n/a
39	chr1:226596668-226596718	T-47D	breast:	n/a
40	chr1:226596668-226596718	AG09319	gingival:	n/a
41	chr1:226596668-226596718	BE2_C	brain:	n/a
42	chr1:226596668-226596718	AG09309	skin:	n/a
43	chr1:226596668-226596718	HCT-116	colon:	n/a
44	chr1:226596668-226596718	SK-N-SH	brain:	n/a
45	chr1:226596668-226596718	GM06990	blood:	n/a
46	chr1:226596668-226596718	AoSMC	blood vessel:	n/a
47	chr1:226596668-226596718	HUVEC	blood vessel:	n/a
48	chr1:226596668-226596718	HRCEpiC	kidney:	n/a
49	chr1:226596668-226596718	K562	blood:	n/a
50	chr1:226596668-226596718	U87	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
2	chr1:226496316..226500064-chr1:226594874..226597502,3	K562	blood:
3	chr1:226595064..226597397-chr1:226599345..226601411,3	MCF-7	breast:
4	chr1:226594983..226596955-chr1:227126462..227129196,3	K562	blood:
5	chr1:226594724..226598216-chr1:226599325..226601512,4	K562	blood:
6	chr1:226595397..226597205-chr1:226598712..226600221,2	MCF-7	breast:
7	chr1:226593987..226597015-chr1:226736474..226738189,3	MCF-7	breast:

No data

Variant related genes	Relation type
PARP1	TF binding region
PARP1	CpG island
ENSG00000183814	Chromatin interaction
ENSG00000203685	Chromatin interaction
ENSG00000270287	Chromatin interaction
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1136410	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12143101	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1317170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1433574	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1527363	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1527365	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1805404	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805411	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805415	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891107	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1891108	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2027440	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2039925	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2048425	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2117114	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2249731	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2255403	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2271349	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377312	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2570367	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2695242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2695243	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793381	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2793658	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3219065	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3219082	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3219104	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56033994	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs752307	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs752309	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs892348	0.92[ASN][1000 genomes]
rs907187	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907188	0.82[AMR][1000 genomes]
rs907190	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907191	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907192	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907193	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs932002	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226595400-226607000	Weak transcription	Fetal Brain Male	brain
2	chr1:226596000-226596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:226596200-226599400	Weak transcription	HSMMtube	muscle
4	chr1:226596200-226602000	Weak transcription	Esophagus	oesophagus
5	chr1:226596200-226602000	Weak transcription	Fetal Thymus	thymus
6	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
7	chr1:226596400-226596800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:226596400-226601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:226596600-226598800	Weak transcription	GM12878-XiMat	blood
10	chr1:226596600-226601600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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