Variant report

Variant	rs959194
Chromosome Location	chr5:105753066-105753067
allele	A/G
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:0)
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	RAD21	chr5:105752924-105753166	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr5:105753023-105753137	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	chr5:105753028-105753078	PANC-1	pancreas:	n/a
2	chr5:105753028-105753078	IMR90	lung:	fetal
3	chr5:105753028-105753078	BE2_C	brain:	n/a
4	chr5:105753028-105753078	NB4	blood:	n/a
5	chr5:105753028-105753078	SAEC	small airway:	n/a
6	chr5:105753028-105753078	HCPEpiC	choroid plexus:	n/a
7	chr5:105753028-105753078	NHBE	bronchial:	n/a
8	chr5:105753028-105753078	Caco-2	colon:	n/a
9	chr5:105753028-105753078	HIPEpiC	eye:	n/a
10	chr5:105753028-105753078	AG04449	skin:	fetal
11	chr5:105753028-105753078	Hela-S3	cervix:	n/a
12	chr5:105753028-105753078	BJ	skin:	n/a
13	chr5:105753028-105753078	GM12891	blood:	n/a
14	chr5:105753028-105753078	H1-hESC	embryonic stem cell:	embryo
15	chr5:105753028-105753078	SKMC	muscle:	n/a
16	chr5:105753028-105753078	NHDF-neo	bronchial:	n/a
17	chr5:105753028-105753078	ECC-1	luminal epithelium:	n/a
18	chr5:105753028-105753078	HNPCEpiC	eye:	n/a
19	chr5:105753028-105753078	HAEpiC	amniotic membrane:	n/a
20	chr5:105753028-105753078	HEK293	kidney:	embryo
21	chr5:105753028-105753078	HepG2	liver:	n/a
22	chr5:105753028-105753078	NH-A	brain:	n/a
23	chr5:105753028-105753078	SK-N-SH	brain:	n/a
24	chr5:105753028-105753078	AG09319	gingival:	n/a
25	chr5:105753028-105753078	GM19239	blood:	n/a
26	chr5:105753028-105753078	NT2-D1	testis:	n/a
27	chr5:105753028-105753078	GM12878	blood:	n/a
28	chr5:105753028-105753078	PFSK-1	brain:	n/a
29	chr5:105753028-105753078	HRCEpiC	kidney:	n/a
30	chr5:105753028-105753078	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:105753028-105753078	U87	brain:	n/a
32	chr5:105753028-105753078	AG10803	skin:	n/a
33	chr5:105753028-105753078	AoSMC	blood vessel:	n/a
34	chr5:105753028-105753078	CMK	blood:	n/a
35	chr5:105753028-105753078	K562	blood:	n/a
36	chr5:105753028-105753078	HRPEpiC	eye:	n/a
37	chr5:105753028-105753078	Hepatocyte	liver:	n/a
38	chr5:105753028-105753078	HCM	heart:	n/a
39	chr5:105753028-105753078	HMEC	breast:	n/a
40	chr5:105753028-105753078	ovcar-3	ovarian:	n/a
41	chr5:105753028-105753078	HL-60	blood:	n/a
42	chr5:105753028-105753078	MCF10A-Er-Src	breast:	n/a
43	chr5:105753028-105753078	HCF	heart:	n/a
44	chr5:105753028-105753078	AG04450	lung:	fetal
45	chr5:105753028-105753078	SK-N-MC	brain:	n/a
46	chr5:105753028-105753078	MCF-7	breast:	n/a
47	chr5:105753028-105753078	HUVEC	blood vessel:	n/a
48	chr5:105753028-105753078	Jurkat	blood:	n/a
49	chr5:105753028-105753078	ProgFib	skin:	n/a
50	chr5:105753028-105753078	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
ENSG00000251204	TF binding region
ENSG00000251204	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10036171	0.82[ASN][1000 genomes]
rs10039212	0.93[ASN][1000 genomes]
rs10045017	0.90[ASN][1000 genomes]
rs10793827	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793828	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11242580	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11744350	0.85[ASN][1000 genomes]
rs11746628	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11958027	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12513725	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12520788	0.81[ASN][1000 genomes]
rs12520822	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12659384	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13159309	0.81[ASN][1000 genomes]
rs13166413	0.87[ASN][1000 genomes]
rs1394620	0.93[ASN][1000 genomes]
rs1394621	0.93[ASN][1000 genomes]
rs28759714	0.93[ASN][1000 genomes]
rs34078071	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4279324	0.83[ASN][1000 genomes]
rs4370259	0.90[ASN][1000 genomes]
rs59849015	0.91[ASN][1000 genomes]
rs6596667	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6596668	0.94[ASN][1000 genomes]
rs6596670	0.88[ASN][1000 genomes]
rs6894853	0.91[ASN][1000 genomes]
rs7449172	0.90[ASN][1000 genomes]
rs7714955	0.93[ASN][1000 genomes]
rs7715017	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7720454	0.89[ASN][1000 genomes]
rs7721384	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7729740	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599285	chr5:105355890-106271223	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2756534	chr5:105427073-105772632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv428123	chr5:105475935-106025350	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3427509	chr5:105505316-105871362	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv462373	chr5:105507543-105795975	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv599291	chr5:105507543-105795975	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv471036	chr5:105507543-105955784	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv882669	chr5:105619741-105936330	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv882671	chr5:105628610-105866862	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv462374	chr5:105635825-105828189	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv599292	chr5:105635825-105828189	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv882672	chr5:105673460-105818481	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv882673	chr5:105751350-105989479	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1016354	chr5:105752391-106392762	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:105751800-105753800	Weak transcription	Osteobl	bone
2	chr5:105751800-105758800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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