Variant report

Variant	rs11499823
Chromosome Location	chr4:100274749-100274750
allele	C/T
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	chr4:100274710-100274760	PrEC	prostate:	n/a
2	chr4:100274710-100274760	BE2_C	brain:	n/a
3	chr4:100274710-100274760	HCT-116	colon:	n/a
4	chr4:100274710-100274760	HRE	kidney:	n/a
5	chr4:100274710-100274760	SKMC	muscle:	n/a
6	chr4:100274710-100274760	PANC-1	pancreas:	n/a
7	chr4:100274710-100274760	GM12892	blood:	n/a
8	chr4:100274710-100274760	Caco-2	colon:	n/a
9	chr4:100274710-100274760	ECC-1	luminal epithelium:	n/a
10	chr4:100274710-100274760	H1-hESC	embryonic stem cell:	embryo
11	chr4:100274710-100274760	GM12878	blood:	n/a
12	chr4:100274710-100274760	PFSK-1	brain:	n/a
13	chr4:100274710-100274760	MCF-7	breast:	n/a
14	chr4:100274710-100274760	SAEC	small airway:	n/a
15	chr4:100274710-100274760	AG09319	gingival:	n/a
16	chr4:100274710-100274760	SK-N-MC	brain:	n/a
17	chr4:100274710-100274760	MCF10A-Er-Src	breast:	n/a
18	chr4:100274710-100274760	ovcar-3	ovarian:	n/a
19	chr4:100274710-100274760	ProgFib	skin:	n/a
20	chr4:100274710-100274760	NT2-D1	testis:	n/a
21	chr4:100274710-100274760	HL-60	blood:	n/a
22	chr4:100274710-100274760	SK-N-SH_RA	brain:	n/a
23	chr4:100274710-100274760	K562	blood:	n/a
24	chr4:100274710-100274760	HEEpiC	esophagus:	n/a
25	chr4:100274710-100274760	HUVEC	blood vessel:	n/a
26	chr4:100274710-100274760	HRPEpiC	eye:	n/a
27	chr4:100274710-100274760	AG04449	skin:	fetal
28	chr4:100274710-100274760	HCM	heart:	n/a
29	chr4:100274710-100274760	NB4	blood:	n/a
30	chr4:100274710-100274760	U87	brain:	n/a
31	chr4:100274710-100274760	GM06990	blood:	n/a
32	chr4:100274710-100274760	A549	lung:	n/a
33	chr4:100274710-100274760	GM12891	blood:	n/a
34	chr4:100274710-100274760	HEK293	kidney:	embryo
35	chr4:100274710-100274760	GM19239	blood:	n/a
36	chr4:100274710-100274760	HMEC	breast:	n/a
37	chr4:100274710-100274760	HepG2	liver:	n/a
38	chr4:100274710-100274760	HNPCEpiC	eye:	n/a
39	chr4:100274710-100274760	CMK	blood:	n/a
40	chr4:100274710-100274760	IMR90	lung:	fetal
41	chr4:100274710-100274760	AoSMC	blood vessel:	n/a
42	chr4:100274710-100274760	Jurkat	blood:	n/a
43	chr4:100274710-100274760	SK-N-SH	brain:	n/a
44	chr4:100274710-100274760	RPTEC	kidney:	n/a
45	chr4:100274710-100274760	Hela-S3	cervix:	n/a
46	chr4:100274710-100274760	Hepatocyte	liver:	n/a
47	chr4:100274710-100274760	NHBE	bronchial:	n/a
48	chr4:100274710-100274760	BJ	skin:	n/a
49	chr4:100274710-100274760	LNCaP	prostate:	n/a
50	chr4:100274710-100274760	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ADH1C	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11499828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154430	1.00[ASN][1000 genomes]
rs1154432	1.00[ASN][1000 genomes]
rs11936869	1.00[CHB][hapmap]
rs1229863	1.00[ASN][1000 genomes]
rs1583973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631460	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs1662051	1.00[CHB][hapmap]
rs1662058	1.00[CHB][hapmap]
rs1662060	1.00[CHB][hapmap]
rs1693424	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1693469	1.00[CHB][hapmap]
rs1693471	0.81[ASN][1000 genomes]
rs1693476	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1693482	1.00[CHB][hapmap]
rs17526590	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17586023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17586163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789889	1.00[ASN][1000 genomes]
rs1789890	1.00[ASN][1000 genomes]
rs1789891	1.00[ASN][1000 genomes]
rs1789898	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1789903	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1789911	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1789924	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2165670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2226898	1.00[ASN][1000 genomes]
rs2298753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298755	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs283415	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2866153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33988198	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34178057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34774688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189763	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910713	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305763	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307295	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307318	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs904095	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs904096	1.00[CHB][hapmap];0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002809	chr4:100234048-100285508	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv528518	chr4:100258155-100274749	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879659	chr4:100260789-100349135	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3420705	chr4:100273129-100277327	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100273800-100274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:100273800-100274800	Flanking Active TSS	Liver	Liver
3	chr4:100273800-100274800	Flanking Active TSS	Fetal Lung	lung
4	chr4:100273800-100275000	Enhancers	Fetal Muscle Leg	muscle
5	chr4:100274000-100274800	Enhancers	Fetal Kidney	kidney
6	chr4:100274000-100275000	Enhancers	Fetal Intestine Large	intestine
7	chr4:100274000-100275000	Enhancers	Fetal Intestine Small	intestine
8	chr4:100274200-100274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:100274200-100274800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr4:100274200-100274800	Enhancers	Pancreas	Pancrea
11	chr4:100274200-100274800	Enhancers	Stomach Smooth Muscle	stomach
12	chr4:100274200-100275000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:100274200-100275000	Enhancers	Small Intestine	intestine
14	chr4:100274200-100275000	Enhancers	Stomach Mucosa	stomach
15	chr4:100274400-100274800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:100274400-100275000	Enhancers	Ovary	ovary
17	chr4:100274400-100279000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:100274600-100274800	Flanking Active TSS	Colonic Mucosa	Colon
19	chr4:100274600-100274800	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:100274600-100274800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr4:100274600-100275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:100274600-100275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:100274600-100275000	Enhancers	Adipose Nuclei	Adipose
24	chr4:100274600-100284600	Weak transcription	Aorta	Aorta

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