Variant report

Variant	rs6747843
Chromosome Location	chr2:234664354-234664355
allele	A/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	chr2:234664336-234664386	NHDF-neo	bronchial:	n/a
2	chr2:234664336-234664386	GM19239	blood:	n/a
3	chr2:234664336-234664386	RPTEC	kidney:	n/a
4	chr2:234664336-234664386	NT2-D1	testis:	n/a
5	chr2:234664336-234664386	AG09309	skin:	n/a
6	chr2:234664336-234664386	U87	brain:	n/a
7	chr2:234664336-234664386	SKMC	muscle:	n/a
8	chr2:234664336-234664386	PFSK-1	brain:	n/a
9	chr2:234664336-234664386	HRPEpiC	eye:	n/a
10	chr2:234664336-234664386	MCF10A-Er-Src	breast:	n/a
11	chr2:234664336-234664386	GM12891	blood:	n/a
12	chr2:234664336-234664386	HEEpiC	esophagus:	n/a
13	chr2:234664336-234664386	ECC-1	luminal epithelium:	n/a
14	chr2:234664336-234664386	AoSMC	blood vessel:	n/a
15	chr2:234664336-234664386	NH-A	brain:	n/a
16	chr2:234664336-234664386	HNPCEpiC	eye:	n/a
17	chr2:234664336-234664386	ProgFib	skin:	n/a
18	chr2:234664336-234664386	Jurkat	blood:	n/a
19	chr2:234664336-234664386	HCM	heart:	n/a
20	chr2:234664336-234664386	PrEC	prostate:	n/a
21	chr2:234664336-234664386	SAEC	small airway:	n/a
22	chr2:234664336-234664386	AG10803	skin:	n/a
23	chr2:234664336-234664386	HL-60	blood:	n/a
24	chr2:234664336-234664386	ovcar-3	ovarian:	n/a
25	chr2:234664336-234664386	HRE	kidney:	n/a
26	chr2:234664336-234664386	NHBE	bronchial:	n/a
27	chr2:234664336-234664386	MCF-7	breast:	n/a
28	chr2:234664336-234664386	HAEpiC	amniotic membrane:	n/a
29	chr2:234664336-234664386	GM12892	blood:	n/a
30	chr2:234664336-234664386	AG04450	lung:	fetal
31	chr2:234664336-234664386	CMK	blood:	n/a
32	chr2:234664336-234664386	SK-N-MC	brain:	n/a
33	chr2:234664336-234664386	BE2_C	brain:	n/a
34	chr2:234664336-234664386	A549	lung:	n/a
35	chr2:234664336-234664386	HepG2	liver:	n/a
36	chr2:234664336-234664386	AG04449	skin:	fetal
37	chr2:234664336-234664386	HMEC	breast:	n/a
38	chr2:234664336-234664386	HRCEpiC	kidney:	n/a
39	chr2:234664336-234664386	LNCaP	prostate:	n/a
40	chr2:234664336-234664386	AG09319	gingival:	n/a
41	chr2:234664336-234664386	H1-hESC	embryonic stem cell:	embryo
42	chr2:234664336-234664386	SK-N-SH	brain:	n/a
43	chr2:234664336-234664386	HUVEC	blood vessel:	n/a
44	chr2:234664336-234664386	HIPEpiC	eye:	n/a
45	chr2:234664336-234664386	K562	blood:	n/a
46	chr2:234664336-234664386	HEK293	kidney:	embryo
47	chr2:234664336-234664386	HCT-116	colon:	n/a
48	chr2:234664336-234664386	Hela-S3	cervix:	n/a
49	chr2:234664336-234664386	HCF	heart:	n/a
50	chr2:234664336-234664386	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000178836	CpG island
UGT1A1	CpG island
UGT1A8	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10178992	1.00[ASN][1000 genomes]
rs10929302	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673726	1.00[ASN][1000 genomes]
rs11695484	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888459	1.00[ASN][1000 genomes]
rs11891311	0.92[ASN][1000 genomes]
rs12987866	0.82[EUR][1000 genomes]
rs13009407	0.80[EUR][1000 genomes]
rs13401281	0.90[ASN][1000 genomes]
rs13410335	0.90[ASN][1000 genomes]
rs17862875	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17864701	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875263	0.81[ASN][1000 genomes]
rs1983023	0.92[ASN][1000 genomes]
rs2018985	0.95[ASN][1000 genomes]
rs2885296	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34352510	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771341	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806592	0.81[ASN][1000 genomes]
rs4148324	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148325	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4341922	0.84[ASN][1000 genomes]
rs4477910	0.92[ASN][1000 genomes]
rs6431625	0.85[ASN][1000 genomes]
rs6714634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722076	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6742078	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744284	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749496	0.81[ASN][1000 genomes]
rs7564935	0.94[ASN][1000 genomes]
rs7567468	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7604115	1.00[ASN][1000 genomes]
rs869283	0.81[ASN][1000 genomes]
rs887829	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929596	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv3215	chr2:234631123-234670276	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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
5	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv1809176	chr2:234646637-234664902	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1808921	chr2:234648954-234666236	Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1811500	chr2:234648954-234666236	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3356788	chr2:234653157-234664730	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3506693	chr2:234653208-234664713	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3506694	chr2:234653208-234664713	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3410272	chr2:234653209-234664817	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv8142	chr2:234653225-234664769	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv876018	chr2:234653938-234666461	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv584705	chr2:234658623-234665537	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:234626600-234668400	Weak transcription	NHEK	skin
2	chr2:234646400-234666600	Weak transcription	Stomach Mucosa	stomach
3	chr2:234660000-234666200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:234660200-234666400	Weak transcription	Colonic Mucosa	Colon
5	chr2:234664000-234666400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:234664000-234669000	Weak transcription	Esophagus	oesophagus
7	chr2:234664000-234669200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:234664200-234664600	Enhancers	A549	lung
9	chr2:234664200-234668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234664200-234669000	Enhancers	Liver	Liver

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