Variant report

Variant	rs11721818
Chromosome Location	chr4:187477320-187477321
allele	A/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: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	chr4:187477310-187477360	HUVEC	blood vessel:	n/a
2	chr4:187477310-187477360	IMR90	lung:	fetal
3	chr4:187477310-187477360	LNCaP	prostate:	n/a
4	chr4:187477310-187477360	HCT-116	colon:	n/a
5	chr4:187477310-187477360	HNPCEpiC	eye:	n/a
6	chr4:187477310-187477360	SK-N-SH	brain:	n/a
7	chr4:187477310-187477360	AG09309	skin:	n/a
8	chr4:187477310-187477360	BJ	skin:	n/a
9	chr4:187477310-187477360	AoSMC	blood vessel:	n/a
10	chr4:187477310-187477360	PFSK-1	brain:	n/a
11	chr4:187477310-187477360	GM12892	blood:	n/a
12	chr4:187477310-187477360	PrEC	prostate:	n/a
13	chr4:187477310-187477360	Hepatocyte	liver:	n/a
14	chr4:187477310-187477360	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:187477310-187477360	HRPEpiC	eye:	n/a
16	chr4:187477310-187477360	MCF10A-Er-Src	breast:	n/a
17	chr4:187477310-187477360	MCF-7	breast:	n/a
18	chr4:187477310-187477360	HRCEpiC	kidney:	n/a
19	chr4:187477310-187477360	NH-A	brain:	n/a
20	chr4:187477310-187477360	RPTEC	kidney:	n/a
21	chr4:187477310-187477360	SK-N-MC	brain:	n/a
22	chr4:187477310-187477360	GM19239	blood:	n/a
23	chr4:187477310-187477360	NHBE	bronchial:	n/a
24	chr4:187477310-187477360	ECC-1	luminal epithelium:	n/a
25	chr4:187477310-187477360	HCPEpiC	choroid plexus:	n/a
26	chr4:187477310-187477360	HepG2	liver:	n/a
27	chr4:187477310-187477360	HEK293	kidney:	embryo
28	chr4:187477310-187477360	BE2_C	brain:	n/a
29	chr4:187477310-187477360	Jurkat	blood:	n/a
30	chr4:187477310-187477360	GM06990	blood:	n/a
31	chr4:187477310-187477360	AG10803	skin:	n/a
32	chr4:187477310-187477360	ProgFib	skin:	n/a
33	chr4:187477310-187477360	H1-hESC	embryonic stem cell:	embryo
34	chr4:187477310-187477360	NB4	blood:	n/a
35	chr4:187477310-187477360	CMK	blood:	n/a
36	chr4:187477310-187477360	Hela-S3	cervix:	n/a
37	chr4:187477310-187477360	AG04449	skin:	fetal
38	chr4:187477310-187477360	SAEC	small airway:	n/a
39	chr4:187477310-187477360	SKMC	muscle:	n/a
40	chr4:187477310-187477360	A549	lung:	n/a
41	chr4:187477310-187477360	HAEpiC	amniotic membrane:	n/a
42	chr4:187477310-187477360	HRE	kidney:	n/a
43	chr4:187477310-187477360	NT2-D1	testis:	n/a
44	chr4:187477310-187477360	K562	blood:	n/a
45	chr4:187477310-187477360	HEEpiC	esophagus:	n/a
46	chr4:187477310-187477360	AG04450	lung:	fetal
47	chr4:187477310-187477360	HL-60	blood:	n/a
48	chr4:187477310-187477360	U87	brain:	n/a
49	chr4:187477310-187477360	GM12878	blood:	n/a
50	chr4:187477310-187477360	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187477233..187480575-chr4:187481254..187484237,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272297	CpG island
MTNR1A	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11132403	0.87[ASN][1000 genomes]
rs11728777	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs11730016	0.84[EUR][1000 genomes]
rs12642043	0.86[ASN][1000 genomes]
rs2119882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375776	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2375777	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28509178	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28624233	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28683491	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28688046	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4577624	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4862707	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4862708	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4862709	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4862710	0.83[EUR][1000 genomes]
rs4862711	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4862712	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6553013	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6851617	0.92[EUR][1000 genomes]
rs6852670	0.85[EUR][1000 genomes]
rs6858707	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72716220	0.83[EUR][1000 genomes]
rs7665239	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7687823	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv3373676	chr4:187475483-187478331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187477000-187478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:187477000-187478200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:187477000-187482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187477200-187477800	Weak transcription	Pancreas	Pancrea
5	chr4:187477200-187478600	Weak transcription	A549	lung

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