Variant report

Variant	rs8192515
Chromosome Location	chr16:75600365-75600366
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	TEAD4	chr16:75600138-75600491	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr16:75599987-75600614	SK-N-SH_RA	brain:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
3	ZBTB7A	chr16:75600360-75600525	K562	blood:	n/a	n/a
4	MAFK	chr16:75600249-75600463	Hela-S3	cervix:	n/a	n/a
5	CCNT2	chr16:75600013-75601099	K562	blood:	n/a	chr16:75600449-75600458 chr16:75600471-75600480 chr16:75600222-75600231
6	POLR2A	chr16:75599645-75601218	K562	blood:	n/a	n/a
7	SP1	chr16:75599808-75600579	A549	lung:	n/a	chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600471-75600480 chr16:75600222-75600231 chr16:75600444-75600458 chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600470-75600484 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
8	SP2	chr16:75600049-75600436	H1-hESC	embryonic stem cell:	n/a	chr16:75600220-75600235
9	SIN3AK20	chr16:75599621-75600572	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr16:75599472-75601353	IMR90	lung:	n/a	n/a
11	ZBTB7A	chr16:75599867-75600579	ECC-1	luminal epithelium:	n/a	n/a
12	IRF1	chr16:75599894-75600422	K562	blood:	n/a	chr16:75600218-75600232
13	POLR2A	chr16:75599898-75600570	GM18951	blood:	n/a	n/a
14	GABPA	chr16:75600004-75600623	HepG2	liver:	n/a	chr16:75600222-75600231
15	GABPA	chr16:75599982-75600534	H1-hESC	embryonic stem cell:	n/a	chr16:75600222-75600231
16	YY1	chr16:75599992-75600485	ECC-1	luminal epithelium:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
17	POLR2A	chr16:75599744-75600988	GM19193	blood:	n/a	n/a
18	EBF1	chr16:75600334-75600675	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:75600201-75600432	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr16:75600138-75600396	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr16:75599691-75600960	K562	blood:	n/a	n/a
22	GTF2F1	chr16:75600290-75600427	K562	blood:	n/a	n/a
23	GABPA	chr16:75600009-75600476	H1-hESC	embryonic stem cell:	n/a	chr16:75600222-75600231
24	POLR2A	chr16:75599885-75600514	SK-N-SH	brain:	n/a	n/a
25	RCOR1	chr16:75599601-75600554	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:75599985-75600953	MCF-7	breast:	n/a	n/a
27	TAF1	chr16:75600113-75600496	K562	blood:	n/a	n/a
28	YY1	chr16:75600016-75600434	HepG2	liver:	n/a	chr16:75600222-75600231 chr16:75600375-75600384
29	SP1	chr16:75599811-75600532	A549	lung:	n/a	chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600471-75600480 chr16:75600222-75600231 chr16:75600444-75600458 chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600470-75600484 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
30	POLR2A	chr16:75599736-75600740	PBDE	blood:	n/a	n/a
31	JUND	chr16:75600278-75600443	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:75600128-75600489	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:75599887-75600549	GM18526	blood:	n/a	n/a
34	EGR1	chr16:75599703-75600412	K562	blood:	n/a	chr16:75600223-75600236 chr16:75600221-75600231
35	YY1	chr16:75599854-75600503	K562	blood:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
36	ZBTB7A	chr16:75599638-75600729	ECC-1	luminal epithelium:	n/a	n/a
37	CHD2	chr16:75599861-75600992	GM12878	blood:	n/a	n/a
38	PML	chr16:75599769-75601348	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:75599759-75600664	GM15510	blood:	n/a	n/a
40	POLR2A	chr16:75599884-75600482	K562	blood:	n/a	n/a
41	JUND	chr16:75599683-75600589	K562	blood:	n/a	n/a
42	ELK1	chr16:75599998-75600454	GM12878	blood:	n/a	n/a
43	YY1	chr16:75599966-75600486	SK-N-SH_RA	brain:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
44	YY1	chr16:75599877-75600551	GM12892	blood:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
45	CHD2	chr16:75600146-75600597	HepG2	liver:	n/a	n/a
46	JUND	chr16:75600036-75600530	A549	lung:	n/a	n/a
47	PML	chr16:75599824-75600521	K562	blood:	n/a	n/a
48	YY1	chr16:75599775-75600616	GM12878	blood:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
49	POLR2A	chr16:75599932-75600484	HepG2	liver:	n/a	n/a
50	POLR2A	chr16:75600093-75600568	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75598745..75600890-chr16:75655383..75657208,2	MCF-7	breast:
2	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:
3	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
4	chr16:75496436..75498553-chr16:75596400..75601675,4	MCF-7	breast:
5	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
6	chr16:75466841..75469026-chr16:75598696..75600730,2	MCF-7	breast:
7	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
8	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
9	chr1:149858339..149860614-chr16:75599065..75602027,3	MCF-7	breast:

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000065457	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941301	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941409	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16942032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2164246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862257	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60919196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74027424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027439	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027441	1.00[EUR][1000 genomes]
rs74027443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920037	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv3312533	chr16:75599276-75601824	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
10	esv3312534	chr16:75599276-75601824	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 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	chr16:75599000-75600400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:75599000-75600400	Active TSS	Thymus	Thymus
3	chr16:75599000-75600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:75599000-75601000	Active TSS	Brain Anterior Caudate	brain
5	chr16:75599000-75601000	Active TSS	Brain Cingulate Gyrus	brain
6	chr16:75599000-75601400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:75599000-75601400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:75599200-75600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:75599200-75600800	Active TSS	Colonic Mucosa	Colon
10	chr16:75599200-75600800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr16:75599200-75601000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:75599200-75601400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:75599200-75601400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:75599200-75601400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr16:75599200-75601600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr16:75599400-75601000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:75599400-75601000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr16:75599400-75601400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr16:75599400-75601400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr16:75599400-75601600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:75599600-75600400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:75599600-75600400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:75599600-75600800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:75599600-75600800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:75599600-75600800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr16:75599600-75600800	Active TSS	Colon Smooth Muscle	Colon
27	chr16:75599600-75601000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr16:75599600-75601000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:75599600-75601000	Active TSS	Brain Substantia Nigra	brain
30	chr16:75599600-75601000	Active TSS	Fetal Heart	heart
31	chr16:75599600-75601000	Active TSS	Left Ventricle	heart
32	chr16:75599600-75601000	Active TSS	Ovary	ovary
33	chr16:75599600-75601000	Active TSS	Psoas Muscle	Psoas
34	chr16:75599600-75601000	Active TSS	Right Atrium	heart
35	chr16:75599600-75601200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:75599600-75601200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:75599600-75601200	Active TSS	Brain Hippocampus Middle	brain
38	chr16:75599600-75601400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:75599600-75601400	Active TSS	Aorta	Aorta
40	chr16:75599600-75601400	Active TSS	A549	lung
41	chr16:75599600-75601600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:75599600-75601600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:75599800-75600800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr16:75599800-75600800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:75599800-75600800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr16:75599800-75600800	Active TSS	Esophagus	oesophagus
47	chr16:75599800-75600800	Active TSS	Fetal Brain Female	brain
48	chr16:75599800-75600800	Active TSS	Placenta	Placenta
49	chr16:75599800-75600800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr16:75599800-75600800	Active TSS	Spleen	Spleen

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