Variant report

Variant	rs60776905
Chromosome Location	chr16:82203580-82203581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr16:82203548-82204036	HepG2	liver:	n/a	chr16:82203652-82203664
2	POLR2A	chr16:82203282-82204437	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr16:82203445-82204598	K562	blood:	n/a	chr16:82203969-82203978 chr16:82203907-82203916 chr16:82203824-82203833 chr16:82203650-82203659
4	POLR2A	chr16:82203473-82203990	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:82203447-82203914	GM12878	blood:	n/a	n/a
6	MAZ	chr16:82203399-82204535	IMR90	lung:	n/a	chr16:82203651-82203661 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
7	FOXA1	chr16:82203349-82204040	T-47D	breast:	n/a	n/a
8	POLR2A	chr16:82203566-82204046	HCT-116	colon:	n/a	n/a
9	ATF3	chr16:82203551-82203958	K562	blood:	n/a	chr16:82203909-82203918
10	REST	chr16:82203377-82204165	HL-60	blood:	n/a	n/a
11	KAP1	chr16:82203403-82204429	HEK293	kidney:	n/a	n/a
12	MAX	chr16:82203410-82204516	SK-N-SH	brain:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
13	POLR2A	chr16:82203481-82203978	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr16:82203352-82203936	Hela-S3	cervix:	n/a	n/a
15	BHLHE40	chr16:82203428-82204348	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:82200674-82204569	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr16:82203327-82204557	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
18	MAX	chr16:82203394-82204562	ECC-1	luminal epithelium:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
19	TAF1	chr16:82203417-82203979	HepG2	liver:	n/a	n/a
20	MYC	chr16:82203483-82204289	HepG2	liver:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
21	ELF1	chr16:82203393-82204417	GM12878	blood:	n/a	chr16:82203652-82203664
22	HEY1	chr16:82203387-82203951	K562	blood:	n/a	n/a
23	MAX	chr16:82203321-82204532	HCT-116	colon:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
24	PML	chr16:82203411-82204324	GM12878	blood:	n/a	n/a
25	MAX	chr16:82203397-82204551	MCF-7	breast:	n/a	chr16:82203651-82203661 chr16:82204199-82204209 chr16:82204200-82204209 chr16:82204197-82204212 chr16:82203837-82203846 chr16:82204201-82204208
26	CTCF	chr16:82203480-82203630	A549	lung:	n/a	n/a
27	POLR2A	chr16:82203450-82203763	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:82203491-82203964	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr16:82203385-82204084	K562	blood:	n/a	n/a
30	POLR2A	chr16:82203429-82203888	GM12891	blood:	n/a	n/a
31	CEBPD	chr16:82203484-82204114	HepG2	liver:	n/a	n/a
32	CHD1	chr16:82203241-82203743	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:82203306-82203979	Hela-S3	cervix:	n/a	n/a
34	HEY1	chr16:82203466-82203903	HepG2	liver:	n/a	n/a
35	UBTF	chr16:82203367-82204517	K562	blood:	n/a	n/a
36	CEBPB	chr16:82203556-82204068	Hela-S3	cervix:	n/a	n/a
37	BHLHE40	chr16:82203395-82204432	K562	blood:	n/a	n/a
38	TCF7L2	chr16:82203468-82204489	HCT-116	colon:	n/a	chr16:82204236-82204245
39	GTF2F1	chr16:82203483-82204083	H1-hESC	embryonic stem cell:	n/a	n/a
40	IRF1	chr16:82203438-82204353	K562	blood:	n/a	n/a
41	ZNF143	chr16:82203439-82203849	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr16:82203330-82204006	A549	lung:	n/a	n/a
43	POLR2A	chr16:82203356-82204518	U87	brain:	n/a	n/a
44	SIN3A	chr16:82203411-82204385	H1-hESC	embryonic stem cell:	n/a	chr16:82203987-82203998
45	CHD2	chr16:82203532-82204361	K562	blood:	n/a	n/a
46	POLR2A	chr16:82203414-82204258	MCF-7	breast:	n/a	n/a
47	TAF1	chr16:82203378-82204395	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr16:82203395-82204118	K562	blood:	n/a	n/a
49	RCOR1	chr16:82203356-82204531	K562	blood:	n/a	n/a
50	RFX5	chr16:82203407-82204047	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:82203331..82204094-chr7:94536560..94537463,2	HCT-116	colon:
2	chr16:82171180..82173441-chr16:82201395..82203780,2	MCF-7	breast:
3	chr16:82203390..82203935-chr19:13262639..13263471,2	Hela-S3	cervix:
4	chr16:82203527..82204190-chr2:26101329..26101957,2	HCT-116	colon:
5	chr11:64901980..64902550-chr16:82203349..82203968,2	Hela-S3	cervix:
6	chr16:82203331..82204106-chr20:18488610..18489467,2	Hela-S3	cervix:
7	chr15:81281954..81282793-chr16:82203347..82204123,2	Hela-S3	cervix:
8	chr16:82203368..82204098-chr18:711824..712742,2	NB4	blood:
9	chr16:82203572..82204072-chr6:31670450..31671114,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000261029	TF binding region
ENSG00000158528	Chromatin interaction
ENSG00000261235	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000143970	Chromatin interaction
ENSG00000117899	Chromatin interaction
ENSG00000132199	Chromatin interaction
ENSG00000101310	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000160888	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13335963	0.92[EUR][1000 genomes]
rs13337285	0.92[EUR][1000 genomes]
rs16956540	0.82[AFR][1000 genomes]
rs16956562	0.81[AFR][1000 genomes]
rs16956613	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56704220	0.96[EUR][1000 genomes]
rs57035666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57080322	0.96[EUR][1000 genomes]
rs57573650	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57899428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57928709	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60689879	0.81[AFR][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];0.88[EUR][1000 genomes]
rs6564990	0.92[EUR][1000 genomes]
rs6564991	0.92[EUR][1000 genomes]
rs6564992	0.92[EUR][1000 genomes]
rs6564993	0.92[EUR][1000 genomes]
rs6564994	0.92[EUR][1000 genomes]
rs6564995	0.92[EUR][1000 genomes]
rs7184881	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7186070	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7191392	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7195032	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196909	0.92[EUR][1000 genomes]
rs7200987	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7202424	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[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];0.88[EUR][1000 genomes]
rs73591450	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591453	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73591454	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73591483	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73591486	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73591491	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes]
rs73593211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73593219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.88[EUR][1000 genomes]
rs73593256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73593257	0.88[EUR][1000 genomes]
rs73593260	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8050837	0.92[EUR][1000 genomes]
rs8053704	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8056380	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8057418	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8057629	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8060652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8061937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82202200-82204400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82202400-82203600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:82202400-82204000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:82202400-82204000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:82202400-82204000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:82202400-82204400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr16:82202400-82204400	Active TSS	HSMM	muscle
8	chr16:82202600-82203600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:82202600-82203600	Flanking Active TSS	Liver	Liver
10	chr16:82202600-82203600	Enhancers	Fetal Heart	heart
11	chr16:82202600-82204200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr16:82202600-82204200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:82202600-82204200	Active TSS	A549	lung
14	chr16:82202600-82204600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:82202600-82204600	Active TSS	HSMMtube	muscle
16	chr16:82202600-82205000	Active TSS	Fetal Brain Female	brain
17	chr16:82202800-82203600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr16:82202800-82203600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr16:82202800-82203600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:82202800-82203600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr16:82202800-82204000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr16:82202800-82204000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr16:82202800-82204000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:82202800-82204000	Active TSS	Fetal Intestine Large	intestine
25	chr16:82202800-82204200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:82202800-82204600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:82202800-82204600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:82202800-82204600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr16:82202800-82204600	Active TSS	Psoas Muscle	Psoas
30	chr16:82203000-82203600	Active TSS	Right Atrium	heart
31	chr16:82203000-82204000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr16:82203000-82204000	Active TSS	Colonic Mucosa	Colon
33	chr16:82203000-82204000	Active TSS	Fetal Thymus	thymus
34	chr16:82203000-82204000	Active TSS	Gastric	stomach
35	chr16:82203000-82204000	Active TSS	Pancreas	Pancrea
36	chr16:82203000-82204000	Active TSS	HMEC	breast
37	chr16:82203000-82204200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:82203000-82204200	Active TSS	Right Ventricle	heart
39	chr16:82203000-82204200	Active TSS	Osteobl	bone
40	chr16:82203000-82204400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:82203000-82204400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:82203000-82204400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:82203000-82204400	Active TSS	Brain Substantia Nigra	brain
44	chr16:82203000-82204400	Active TSS	NHDF-Ad	bronchial
45	chr16:82203000-82204400	Active TSS	NHEK	skin
46	chr16:82203000-82204400	Active TSS	NHLF	lung
47	chr16:82203000-82204600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:82203000-82204600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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