Variant report

Variant	rs7201284
Chromosome Location	chr16:77221679-77221680
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:2)
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	chr16:77221668-77221718	Hepatocyte	liver:	n/a
2	chr16:77221668-77221718	HEEpiC	esophagus:	n/a
3	chr16:77221668-77221718	NB4	blood:	n/a
4	chr16:77221668-77221718	HCF	heart:	n/a
5	chr16:77221668-77221718	HRE	kidney:	n/a
6	chr16:77221668-77221718	MCF10A-Er-Src	breast:	n/a
7	chr16:77221668-77221718	ProgFib	skin:	n/a
8	chr16:77221668-77221718	HMEC	breast:	n/a
9	chr16:77221668-77221718	PANC-1	pancreas:	n/a
10	chr16:77221668-77221718	PFSK-1	brain:	n/a
11	chr16:77221668-77221718	CMK	blood:	n/a
12	chr16:77221668-77221718	BJ	skin:	n/a
13	chr16:77221668-77221718	SK-N-MC	brain:	n/a
14	chr16:77221668-77221718	HEK293	kidney:	embryo
15	chr16:77221668-77221718	MCF-7	breast:	n/a
16	chr16:77221668-77221718	HAEpiC	amniotic membrane:	n/a
17	chr16:77221668-77221718	HUVEC	blood vessel:	n/a
18	chr16:77221668-77221718	AG04449	skin:	fetal
19	chr16:77221668-77221718	A549	lung:	n/a
20	chr16:77221668-77221718	K562	blood:	n/a
21	chr16:77221668-77221718	AoSMC	blood vessel:	n/a
22	chr16:77221668-77221718	T-47D	breast:	n/a
23	chr16:77221668-77221718	HCT-116	colon:	n/a
24	chr16:77221668-77221718	SAEC	small airway:	n/a
25	chr16:77221668-77221718	H1-hESC	embryonic stem cell:	embryo
26	chr16:77221668-77221718	SK-N-SH_RA	brain:	n/a
27	chr16:77221668-77221718	HRCEpiC	kidney:	n/a
28	chr16:77221668-77221718	GM12878	blood:	n/a
29	chr16:77221668-77221718	SK-N-SH	brain:	n/a
30	chr16:77221668-77221718	NHDF-neo	bronchial:	n/a
31	chr16:77221668-77221718	PrEC	prostate:	n/a
32	chr16:77221668-77221718	Caco-2	colon:	n/a
33	chr16:77221668-77221718	RPTEC	kidney:	n/a
34	chr16:77221668-77221718	HIPEpiC	eye:	n/a
35	chr16:77221668-77221718	GM12892	blood:	n/a
36	chr16:77221668-77221718	GM06990	blood:	n/a
37	chr16:77221668-77221718	NT2-D1	testis:	n/a
38	chr16:77221668-77221718	HRPEpiC	eye:	n/a
39	chr16:77221668-77221718	AG09319	gingival:	n/a
40	chr16:77221668-77221718	Hela-S3	cervix:	n/a
41	chr16:77221668-77221718	BE2_C	brain:	n/a
42	chr16:77221668-77221718	ECC-1	luminal epithelium:	n/a
43	chr16:77221668-77221718	NH-A	brain:	n/a
44	chr16:77221668-77221718	HCM	heart:	n/a
45	chr16:77221668-77221718	AG04450	lung:	fetal
46	chr16:77221668-77221718	ovcar-3	ovarian:	n/a
47	chr16:77221668-77221718	SKMC	muscle:	n/a
48	chr16:77221668-77221718	NHBE	bronchial:	n/a
49	chr16:77221668-77221718	LNCaP	prostate:	n/a
50	chr16:77221668-77221718	U87	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77219105..77221826-chr16:77222885..77224694,2	MCF-7	breast:
2	chr16:77217047..77218852-chr16:77220836..77222789,2	K562	blood:

No data

Variant related genes	Relation type
MON1B	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11544783	0.91[ASN][1000 genomes]
rs11860898	1.00[ASN][1000 genomes]
rs11863718	0.91[ASN][1000 genomes]
rs12931673	0.82[ASN][1000 genomes]
rs13329731	0.82[ASN][1000 genomes]
rs13329816	0.82[ASN][1000 genomes]
rs13330279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs13330367	0.82[ASN][1000 genomes]
rs13332812	0.82[ASN][1000 genomes]
rs13336198	0.91[ASN][1000 genomes]
rs13337994	0.82[ASN][1000 genomes]
rs1428838	0.82[ASN][1000 genomes]
rs1428839	0.82[ASN][1000 genomes]
rs2017197	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28539358	0.82[ASN][1000 genomes]
rs61746433	0.91[ASN][1000 genomes]
rs6564417	0.82[ASN][1000 genomes]
rs7184776	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188241	0.82[ASN][1000 genomes]
rs719053	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7198006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7198588	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7203467	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs73627401	0.82[ASN][1000 genomes]
rs73633620	0.82[ASN][1000 genomes]
rs73633624	0.82[ASN][1000 genomes]
rs73633633	0.82[ASN][1000 genomes]
rs73633644	0.82[ASN][1000 genomes]
rs73633647	0.82[ASN][1000 genomes]
rs73633654	0.82[ASN][1000 genomes]
rs73633661	0.82[ASN][1000 genomes]
rs7501191	0.82[ASN][1000 genomes]
rs8048478	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9924958	0.91[ASN][1000 genomes]
rs9929722	0.82[ASN][1000 genomes]
rs9931082	0.91[ASN][1000 genomes]
rs9931400	0.82[ASN][1000 genomes]
rs9935921	0.82[ASN][1000 genomes]
rs9936182	0.82[ASN][1000 genomes]
rs9937408	0.82[ASN][1000 genomes]
rs9937693	0.82[ASN][1000 genomes]
rs9938871	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869201	chr16:76714549-77233646	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1057677	chr16:76861946-77230013	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS 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	26 gene(s)	inside rSNPs	diseases
3	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
9	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv906954	chr16:77197633-77227180	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv827756	chr16:77198788-77225812	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv442403	chr16:77201483-77222870	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv906955	chr16:77202701-77227180	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv3313790	chr16:77217151-77222249	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3313791	chr16:77217151-77222249	Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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