Variant report

Variant	rs12933760
Chromosome Location	chr16:75299197-75299198
allele	G/T
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	CHD2	chr16:75299096-75299383	HepG2	liver:	n/a	n/a
2	MYC	chr16:75299069-75299383	HUVEC	blood vessel:	n/a	n/a
3	CHD1	chr16:75299157-75299542	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr16:75298637-75299296	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:75299180-75299330	AG04449	skin:	n/a	n/a
6	SIN3A	chr16:75298794-75300213	H1-hESC	embryonic stem cell:	n/a	chr16:75300114-75300127 chr16:75299469-75299482 chr16:75299408-75299421
7	RCOR1	chr16:75298894-75299313	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:75297374-75299567	U87	brain:	n/a	n/a
9	POLR2A	chr16:75299084-75300352	GM19193	blood:	n/a	n/a
10	POLR2A	chr16:75299059-75299369	ECC-1	luminal epithelium:	n/a	n/a
11	FOS	chr16:75299025-75299283	HUVEC	blood vessel:	n/a	n/a
12	NFIC	chr16:75297614-75299402	SK-N-SH	brain:	n/a	n/a
13	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
14	EBF1	chr16:75299013-75299344	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:75299010-75300434	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:75299022-75299320	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:75297599-75300241	HUVEC	blood vessel:	n/a	n/a
19	YY1	chr16:75299174-75300284	HepG2	liver:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
20	POLR2A	chr16:75299117-75300275	HepG2	liver:	n/a	n/a
21	MAZ	chr16:75299125-75300446	K562	blood:	n/a	n/a
22	POLR2A	chr16:75298458-75299417	U87	brain:	n/a	n/a
23	CTCF	chr16:75299180-75299330	NHEK	skin:	n/a	n/a
24	POLR2A	chr16:75297540-75300237	HUVEC	blood vessel:	n/a	n/a
25	CHD2	chr16:75298992-75299363	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:75298254-75299395	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr16:75297637-75300252	IMR90	lung:	n/a	n/a
28	POLR2A	chr16:75297799-75300232	HUVEC	blood vessel:	n/a	n/a
29	REST	chr16:75298827-75300577	H1-neurons	neurons:	n/a	chr16:75300117-75300130
30	SMARCC1	chr16:75297839-75299515	Hela-S3	cervix:	n/a	chr16:75297950-75297959
31	MAX	chr16:75299110-75299282	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:75298738-75299451	HUVEC	blood vessel:	n/a	n/a
33	MAZ	chr16:75299157-75299323	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr16:75298931-75299308	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr16:75298895-75299328	IMR90	lung:	n/a	chr16:75299238-75299251 chr16:75299179-75299193 chr16:75299275-75299288
36	RUNX3	chr16:75298973-75299512	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:75298367-75299211	U87	brain:	n/a	n/a
38	ZBTB7A	chr16:75299122-75300492	K562	blood:	n/a	n/a
39	POLR2A	chr16:75298957-75300248	ProgFib	skin:	n/a	n/a
40	POLR2A	chr16:75297460-75299386	U87	brain:	n/a	n/a
41	ZBTB7A	chr16:75298719-75300857	ECC-1	luminal epithelium:	n/a	n/a
42	HMGN3	chr16:75299010-75300244	K562	blood:	n/a	n/a
43	CCNT2	chr16:75299169-75300288	K562	blood:	n/a	chr16:75300086-75300095
44	TCF12	chr16:75298898-75299565	A549	lung:	n/a	chr16:75299408-75299418
45	MAZ	chr16:75297263-75301010	IMR90	lung:	n/a	chr16:75300514-75300525
46	POLR2A	chr16:75299140-75299312	Hela-S3	cervix:	n/a	n/a
47	SIN3AK20	chr16:75298576-75300848	MCF-7	breast:	n/a	n/a
48	MAZ	chr16:75299175-75299369	GM12878	blood:	n/a	n/a
49	MXI1	chr16:75298731-75300199	HepG2	liver:	n/a	n/a
50	ZBTB7A	chr16:75298913-75300952	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
2	chr16:75181071..75184316-chr16:75297168..75299985,3	MCF-7	breast:
3	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
4	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
5	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000252101	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	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
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	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
14	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
15	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
16	esv3329193	chr16:75298476-75301324	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75295200-75299200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:75295200-75299200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:75295400-75299200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr16:75297200-75299200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:75297200-75299200	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr16:75297200-75299400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr16:75297200-75299600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr16:75297400-75299200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:75297400-75299200	Flanking Active TSS	Hela-S3	cervix
10	chr16:75297400-75300400	Active TSS	Aorta	Aorta
11	chr16:75297600-75299200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr16:75297800-75299200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:75297800-75299200	Flanking Active TSS	Fetal Brain Female	brain
14	chr16:75297800-75299200	Flanking Active TSS	HMEC	breast
15	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr16:75298000-75299200	Flanking Active TSS	Liver	Liver
17	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:75298200-75299200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:75298200-75299200	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr16:75298200-75299200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
21	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr16:75298400-75299200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:75298400-75299200	Flanking Active TSS	NHEK	skin
25	chr16:75298400-75300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:75298400-75300200	Active TSS	HSMMtube	muscle
27	chr16:75298400-75300200	Active TSS	NHDF-Ad	bronchial
28	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr16:75298600-75299200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:75298600-75299200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:75298600-75299200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr16:75298600-75299200	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr16:75298600-75299200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr16:75298600-75299200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr16:75298600-75299200	Flanking Active TSS	GM12878-XiMat	blood
37	chr16:75298600-75299200	Enhancers	K562	blood
38	chr16:75298600-75299400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr16:75298600-75300000	Active TSS	Spleen	Spleen
40	chr16:75298600-75300000	Active TSS	HSMM	muscle
41	chr16:75298600-75300000	Active TSS	NHLF	lung
42	chr16:75298600-75300200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:75298600-75300200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr16:75298600-75300200	Active TSS	Ovary	ovary
45	chr16:75298600-75300400	Active TSS	Small Intestine	intestine
46	chr16:75298600-75300600	Active TSS	Fetal Kidney	kidney
47	chr16:75298800-75299200	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr16:75298800-75299200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr16:75298800-75299200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:75298800-75299200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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