Variant report

Variant	rs7541693
Chromosome Location	chr1:168544582-168544583
allele	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:0)
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	chr1:168544539-168544589	HCT-116	colon:	n/a
2	chr1:168544539-168544589	HEEpiC	esophagus:	n/a
3	chr1:168544539-168544589	AG09319	gingival:	n/a
4	chr1:168544539-168544589	HNPCEpiC	eye:	n/a
5	chr1:168544539-168544589	SK-N-SH_RA	brain:	n/a
6	chr1:168544539-168544589	AG04450	lung:	fetal
7	chr1:168544539-168544589	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:168544539-168544589	SKMC	muscle:	n/a
9	chr1:168544539-168544589	NHDF-neo	bronchial:	n/a
10	chr1:168544539-168544589	HepG2	liver:	n/a
11	chr1:168544539-168544589	SK-N-SH	brain:	n/a
12	chr1:168544539-168544589	AG10803	skin:	n/a
13	chr1:168544539-168544589	HUVEC	blood vessel:	n/a
14	chr1:168544539-168544589	MCF-7	breast:	n/a
15	chr1:168544539-168544589	GM12878	blood:	n/a
16	chr1:168544539-168544589	K562	blood:	n/a
17	chr1:168544539-168544589	Caco-2	colon:	n/a
18	chr1:168544539-168544589	GM12892	blood:	n/a
19	chr1:168544539-168544589	NB4	blood:	n/a
20	chr1:168544539-168544589	NT2-D1	testis:	n/a
21	chr1:168544539-168544589	PANC-1	pancreas:	n/a
22	chr1:168544539-168544589	H1-hESC	embryonic stem cell:	embryo
23	chr1:168544539-168544589	BJ	skin:	n/a
24	chr1:168544539-168544589	MCF10A-Er-Src	breast:	n/a
25	chr1:168544539-168544589	CMK	blood:	n/a
26	chr1:168544539-168544589	U87	brain:	n/a
27	chr1:168544539-168544589	ECC-1	luminal epithelium:	n/a
28	chr1:168544539-168544589	GM19239	blood:	n/a
29	chr1:168544539-168544589	Jurkat	blood:	n/a
30	chr1:168544539-168544589	Hela-S3	cervix:	n/a
31	chr1:168544539-168544589	HMEC	breast:	n/a
32	chr1:168544539-168544589	PrEC	prostate:	n/a
33	chr1:168544539-168544589	SK-N-MC	brain:	n/a
34	chr1:168544539-168544589	A549	lung:	n/a
35	chr1:168544539-168544589	NH-A	brain:	n/a
36	chr1:168544539-168544589	PFSK-1	brain:	n/a
37	chr1:168544539-168544589	RPTEC	kidney:	n/a
38	chr1:168544539-168544589	ProgFib	skin:	n/a
39	chr1:168544539-168544589	IMR90	lung:	fetal
40	chr1:168544539-168544589	GM12891	blood:	n/a
41	chr1:168544539-168544589	AG09309	skin:	n/a
42	chr1:168544539-168544589	LNCaP	prostate:	n/a
43	chr1:168544539-168544589	HEK293	kidney:	embryo
44	chr1:168544539-168544589	ovcar-3	ovarian:	n/a
45	chr1:168544539-168544589	HCPEpiC	choroid plexus:	n/a
46	chr1:168544539-168544589	Hepatocyte	liver:	n/a
47	chr1:168544539-168544589	BE2_C	brain:	n/a
48	chr1:168544539-168544589	AoSMC	blood vessel:	n/a
49	chr1:168544539-168544589	HCM	heart:	n/a
50	chr1:168544539-168544589	AG04449	skin:	fetal

No data

Variant related genes	Relation type
XCL1	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10800359	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918927	0.89[EUR][1000 genomes]
rs11801718	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12029370	0.84[ASN][1000 genomes]
rs12039757	0.94[ASN][1000 genomes]
rs16860907	0.93[ASN][1000 genomes]
rs1933099	0.93[ASN][1000 genomes]
rs2143310	0.94[ASN][1000 genomes]
rs2143311	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2223584	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2419114	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34038445	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3753938	0.95[ASN][1000 genomes]
rs4233342	0.89[ASN][1000 genomes]
rs4656155	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs470739	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7354947	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7532420	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7541604	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv1792733	chr1:168526394-168544716	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168539400-168550600	Weak transcription	HepG2	liver
2	chr1:168543600-168545800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:168544200-168545800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:168544400-168545600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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