Variant report

Variant	rs2599377
Chromosome Location	chr2:187867057-187867058
allele	A/C/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:1)
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	chr2:187867050-187867100	PANC-1	pancreas:	n/a
2	chr2:187867050-187867100	AG09309	skin:	n/a
3	chr2:187867050-187867100	HEEpiC	esophagus:	n/a
4	chr2:187867050-187867100	A549	lung:	n/a
5	chr2:187867050-187867100	NH-A	brain:	n/a
6	chr2:187867050-187867100	CMK	blood:	n/a
7	chr2:187867050-187867100	AoSMC	blood vessel:	n/a
8	chr2:187867050-187867100	AG04450	lung:	fetal
9	chr2:187867050-187867100	ProgFib	skin:	n/a
10	chr2:187867050-187867100	K562	blood:	n/a
11	chr2:187867050-187867100	AG09319	gingival:	n/a
12	chr2:187867050-187867100	NT2-D1	testis:	n/a
13	chr2:187867050-187867100	LNCaP	prostate:	n/a
14	chr2:187867050-187867100	HCPEpiC	choroid plexus:	n/a
15	chr2:187867050-187867100	HRPEpiC	eye:	n/a
16	chr2:187867050-187867100	GM12892	blood:	n/a
17	chr2:187867050-187867100	SKMC	muscle:	n/a
18	chr2:187867050-187867100	HL-60	blood:	n/a
19	chr2:187867050-187867100	BE2_C	brain:	n/a
20	chr2:187867050-187867100	RPTEC	kidney:	n/a
21	chr2:187867050-187867100	HMEC	breast:	n/a
22	chr2:187867050-187867100	GM06990	blood:	n/a
23	chr2:187867050-187867100	PFSK-1	brain:	n/a
24	chr2:187867050-187867100	HNPCEpiC	eye:	n/a
25	chr2:187867050-187867100	HRCEpiC	kidney:	n/a
26	chr2:187867050-187867100	HRE	kidney:	n/a
27	chr2:187867050-187867100	HCT-116	colon:	n/a
28	chr2:187867050-187867100	ECC-1	luminal epithelium:	n/a
29	chr2:187867050-187867100	Caco-2	colon:	n/a
30	chr2:187867050-187867100	SK-N-SH_RA	brain:	n/a
31	chr2:187867050-187867100	U87	brain:	n/a
32	chr2:187867050-187867100	BJ	skin:	n/a
33	chr2:187867050-187867100	HIPEpiC	eye:	n/a
34	chr2:187867050-187867100	GM12891	blood:	n/a
35	chr2:187867050-187867100	Hela-S3	cervix:	n/a
36	chr2:187867050-187867100	NHBE	bronchial:	n/a
37	chr2:187867050-187867100	HCF	heart:	n/a
38	chr2:187867050-187867100	GM12878	blood:	n/a
39	chr2:187867050-187867100	SAEC	small airway:	n/a
40	chr2:187867050-187867100	HepG2	liver:	n/a
41	chr2:187867050-187867100	GM19239	blood:	n/a
42	chr2:187867050-187867100	HCM	heart:	n/a
43	chr2:187867050-187867100	NB4	blood:	n/a
44	chr2:187867050-187867100	H1-hESC	embryonic stem cell:	embryo
45	chr2:187867050-187867100	HAEpiC	amniotic membrane:	n/a
46	chr2:187867050-187867100	HEK293	kidney:	embryo
47	chr2:187867050-187867100	NHDF-neo	bronchial:	n/a
48	chr2:187867050-187867100	MCF-7	breast:	n/a
49	chr2:187867050-187867100	HUVEC	blood vessel:	n/a
50	chr2:187867050-187867100	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187856443..187858232-chr2:187865302..187867610,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224063	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497680	0.85[EUR][1000 genomes]
rs17754154	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17754185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370738	0.88[ASN][1000 genomes]
rs72893349	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72895223	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895240	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72899252	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72899256	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72899263	0.82[EUR][1000 genomes]
rs72899265	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72901418	0.87[EUR][1000 genomes]
rs72901421	0.87[EUR][1000 genomes]
rs72901461	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901464	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901466	0.87[EUR][1000 genomes]
rs72901468	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904948	1.00[AFR][1000 genomes]
rs72904991	1.00[AFR][1000 genomes]
rs72905095	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72906926	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72906928	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72906932	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7584162	1.00[AFR][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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187867000-187867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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