Variant report

Variant	rs8060652
Chromosome Location	chr16:82205001-82205002
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: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	chr16:82204964-82205014	LNCaP	prostate:	n/a
2	chr16:82204964-82205014	Jurkat	blood:	n/a
3	chr16:82204964-82205014	CMK	blood:	n/a
4	chr16:82204964-82205014	NHDF-neo	bronchial:	n/a
5	chr16:82204964-82205014	HEEpiC	esophagus:	n/a
6	chr16:82204964-82205014	PFSK-1	brain:	n/a
7	chr16:82204964-82205014	GM19239	blood:	n/a
8	chr16:82204964-82205014	A549	lung:	n/a
9	chr16:82204964-82205014	RPTEC	kidney:	n/a
10	chr16:82204964-82205014	PANC-1	pancreas:	n/a
11	chr16:82204964-82205014	GM12878	blood:	n/a
12	chr16:82204964-82205014	HUVEC	blood vessel:	n/a
13	chr16:82204964-82205014	BE2_C	brain:	n/a
14	chr16:82204964-82205014	HepG2	liver:	n/a
15	chr16:82204964-82205014	NH-A	brain:	n/a
16	chr16:82204964-82205014	HAEpiC	amniotic membrane:	n/a
17	chr16:82204964-82205014	AG10803	skin:	n/a
18	chr16:82204964-82205014	HEK293	kidney:	embryo
19	chr16:82204964-82205014	T-47D	breast:	n/a
20	chr16:82204964-82205014	NHBE	bronchial:	n/a
21	chr16:82204964-82205014	U87	brain:	n/a
22	chr16:82204964-82205014	HRPEpiC	eye:	n/a
23	chr16:82204964-82205014	AG04450	lung:	fetal
24	chr16:82204964-82205014	AG09309	skin:	n/a
25	chr16:82204964-82205014	HCF	heart:	n/a
26	chr16:82204964-82205014	GM12892	blood:	n/a
27	chr16:82204964-82205014	HRE	kidney:	n/a
28	chr16:82204964-82205014	HNPCEpiC	eye:	n/a
29	chr16:82204964-82205014	IMR90	lung:	fetal
30	chr16:82204964-82205014	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:82204964-82205014	HCM	heart:	n/a
32	chr16:82204964-82205014	ProgFib	skin:	n/a
33	chr16:82204964-82205014	H1-hESC	embryonic stem cell:	embryo
34	chr16:82204964-82205014	ECC-1	luminal epithelium:	n/a
35	chr16:82204964-82205014	GM06990	blood:	n/a
36	chr16:82204964-82205014	NT2-D1	testis:	n/a
37	chr16:82204964-82205014	SK-N-SH_RA	brain:	n/a
38	chr16:82204964-82205014	HL-60	blood:	n/a
39	chr16:82204964-82205014	MCF10A-Er-Src	breast:	n/a
40	chr16:82204964-82205014	Hepatocyte	liver:	n/a
41	chr16:82204964-82205014	ovcar-3	ovarian:	n/a
42	chr16:82204964-82205014	MCF-7	breast:	n/a
43	chr16:82204964-82205014	Hela-S3	cervix:	n/a
44	chr16:82204964-82205014	HMEC	breast:	n/a
45	chr16:82204964-82205014	SK-N-SH	brain:	n/a
46	chr16:82204964-82205014	HRCEpiC	kidney:	n/a
47	chr16:82204964-82205014	AG09319	gingival:	n/a
48	chr16:82204964-82205014	HCPEpiC	choroid plexus:	n/a
49	chr16:82204964-82205014	SKMC	muscle:	n/a
50	chr16:82204964-82205014	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
2	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:

No data

Variant related genes	Relation type
MPHOSPH6	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs13335963	0.85[EUR][1000 genomes]
rs13337285	0.85[EUR][1000 genomes]
rs16956540	0.82[AFR][1000 genomes]
rs16956562	0.81[AFR][1000 genomes]
rs16956613	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56704220	0.89[EUR][1000 genomes]
rs57035666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57080322	0.89[EUR][1000 genomes]
rs57573650	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57899428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57928709	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60689879	0.81[AFR][1000 genomes]
rs60776905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61198904	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62047176	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6564986	0.81[AFR][1000 genomes]
rs6564988	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564990	0.85[EUR][1000 genomes]
rs6564991	0.85[EUR][1000 genomes]
rs6564992	0.85[EUR][1000 genomes]
rs6564993	0.85[EUR][1000 genomes]
rs6564994	0.85[EUR][1000 genomes]
rs6564995	0.85[EUR][1000 genomes]
rs7184881	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7186070	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7191392	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7195032	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7196909	0.85[EUR][1000 genomes]
rs7200987	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7202424	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73591415	0.82[AFR][1000 genomes]
rs73591419	0.85[AFR][1000 genomes]
rs73591424	0.85[AFR][1000 genomes]
rs73591440	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73591450	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73591453	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73591454	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73591483	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73591486	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73591491	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591498	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593205	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73593240	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73593254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73593256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73593257	0.81[EUR][1000 genomes]
rs73593260	0.82[AMR][1000 genomes]
rs8050837	0.85[EUR][1000 genomes]
rs8053704	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8056380	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8057418	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8057629	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8061937	0.93[AMR][1000 genomes];0.92[EUR][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	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:82204600-82206200	Bivalent Enhancer	HepG2	liver
2	chr16:82204800-82205200	Enhancers	Brain Angular Gyrus	brain
3	chr16:82205000-82205200	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr16:82205000-82205200	Bivalent/Poised TSS	Dnd41	blood

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