Variant report

Variant	rs74660205
Chromosome Location	chr16:75299377-75299378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

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	YY1	chr16:75299339-75300293	K562	blood:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
3	POLR2A	chr16:75299241-75299403	MCF-7	breast:	n/a	n/a
4	MYC	chr16:75299069-75299383	HUVEC	blood vessel:	n/a	n/a
5	CHD1	chr16:75299157-75299542	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr16:75299240-75299540	HepG2	liver:	n/a	n/a
7	HCFC1	chr16:75299332-75300587	Hela-S3	cervix:	n/a	n/a
8	SIN3A	chr16:75298794-75300213	H1-hESC	embryonic stem cell:	n/a	chr16:75300114-75300127 chr16:75299469-75299482 chr16:75299408-75299421
9	POLR2A	chr16:75297374-75299567	U87	brain:	n/a	n/a
10	POLR2A	chr16:75299084-75300352	GM19193	blood:	n/a	n/a
11	NFIC	chr16:75297614-75299402	SK-N-SH	brain:	n/a	n/a
12	ZBTB7A	chr16:75299198-75300272	K562	blood:	n/a	n/a
13	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr16:75299010-75300434	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
16	STAT5A	chr16:75299271-75299549	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:75297599-75300241	HUVEC	blood vessel:	n/a	n/a
18	YY1	chr16:75299174-75300284	HepG2	liver:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
19	POLR2A	chr16:75299117-75300275	HepG2	liver:	n/a	n/a
20	MAZ	chr16:75299125-75300446	K562	blood:	n/a	n/a
21	POLR2A	chr16:75298458-75299417	U87	brain:	n/a	n/a
22	POLR2A	chr16:75297540-75300237	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr16:75299240-75299390	AG09319	gingival:	n/a	n/a
24	POLR2A	chr16:75298254-75299395	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr16:75297637-75300252	IMR90	lung:	n/a	n/a
26	POLR2A	chr16:75297799-75300232	HUVEC	blood vessel:	n/a	n/a
27	REST	chr16:75298827-75300577	H1-neurons	neurons:	n/a	chr16:75300117-75300130
28	SMARCC1	chr16:75297839-75299515	Hela-S3	cervix:	n/a	chr16:75297950-75297959
29	POLR2A	chr16:75299210-75299412	HepG2	liver:	n/a	n/a
30	HDAC2	chr16:75299371-75300276	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:75298738-75299451	HUVEC	blood vessel:	n/a	n/a
32	ELF1	chr16:75299375-75300603	GM12878	blood:	n/a	n/a
33	RUNX3	chr16:75298973-75299512	GM12878	blood:	n/a	n/a
34	ZBTB7A	chr16:75299122-75300492	K562	blood:	n/a	n/a
35	POLR2A	chr16:75298957-75300248	ProgFib	skin:	n/a	n/a
36	POLR2A	chr16:75297460-75299386	U87	brain:	n/a	n/a
37	ZBTB7A	chr16:75298719-75300857	ECC-1	luminal epithelium:	n/a	n/a
38	HMGN3	chr16:75299010-75300244	K562	blood:	n/a	n/a
39	CCNT2	chr16:75299169-75300288	K562	blood:	n/a	chr16:75300086-75300095
40	TCF12	chr16:75298898-75299565	A549	lung:	n/a	chr16:75299408-75299418
41	MAZ	chr16:75297263-75301010	IMR90	lung:	n/a	chr16:75300514-75300525
42	SIN3AK20	chr16:75298576-75300848	MCF-7	breast:	n/a	n/a
43	MXI1	chr16:75298731-75300199	HepG2	liver:	n/a	n/a
44	ZBTB7A	chr16:75298913-75300952	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75299374-75299424	LNCaP	prostate:	n/a
2	chr16:75299374-75299424	MCF-7	breast:	n/a
3	chr16:75299374-75299424	HRE	kidney:	n/a
4	chr16:75299374-75299424	MCF10A-Er-Src	breast:	n/a
5	chr16:75299374-75299424	HEEpiC	esophagus:	n/a
6	chr16:75299374-75299424	HL-60	blood:	n/a
7	chr16:75299374-75299424	AG09319	gingival:	n/a
8	chr16:75299374-75299424	PFSK-1	brain:	n/a
9	chr16:75299374-75299424	ProgFib	skin:	n/a
10	chr16:75299374-75299424	PrEC	prostate:	n/a
11	chr16:75299374-75299424	HNPCEpiC	eye:	n/a
12	chr16:75299374-75299424	NHBE	bronchial:	n/a
13	chr16:75299374-75299424	SAEC	small airway:	n/a
14	chr16:75299374-75299424	BE2_C	brain:	n/a
15	chr16:75299374-75299424	BJ	skin:	n/a
16	chr16:75299374-75299424	NB4	blood:	n/a
17	chr16:75299374-75299424	AG04449	skin:	fetal
18	chr16:75299374-75299424	Hepatocyte	liver:	n/a
19	chr16:75299374-75299424	HepG2	liver:	n/a
20	chr16:75299374-75299424	Jurkat	blood:	n/a
21	chr16:75299374-75299424	H1-hESC	embryonic stem cell:	embryo
22	chr16:75299374-75299424	SKMC	muscle:	n/a
23	chr16:75299374-75299424	HCT-116	colon:	n/a
24	chr16:75299374-75299424	Hela-S3	cervix:	n/a
25	chr16:75299374-75299424	SK-N-SH	brain:	n/a
26	chr16:75299374-75299424	U87	brain:	n/a
27	chr16:75299374-75299424	HRPEpiC	eye:	n/a
28	chr16:75299374-75299424	HPAEpiC	pulmonary alveolar:	n/a
29	chr16:75299374-75299424	GM19239	blood:	n/a
30	chr16:75299374-75299424	HCM	heart:	n/a
31	chr16:75299374-75299424	T-47D	breast:	n/a
32	chr16:75299374-75299424	K562	blood:	n/a
33	chr16:75299374-75299424	GM12892	blood:	n/a
34	chr16:75299374-75299424	HEK293	kidney:	embryo
35	chr16:75299374-75299424	HCF	heart:	n/a
36	chr16:75299374-75299424	NH-A	brain:	n/a
37	chr16:75299374-75299424	HAEpiC	amniotic membrane:	n/a
38	chr16:75299374-75299424	HIPEpiC	eye:	n/a
39	chr16:75299374-75299424	PANC-1	pancreas:	n/a
40	chr16:75299374-75299424	HCPEpiC	choroid plexus:	n/a
41	chr16:75299374-75299424	AoSMC	blood vessel:	n/a
42	chr16:75299374-75299424	AG04450	lung:	fetal
43	chr16:75299374-75299424	AG10803	skin:	n/a
44	chr16:75299374-75299424	GM12891	blood:	n/a
45	chr16:75299374-75299424	A549	lung:	n/a
46	chr16:75299374-75299424	AG09309	skin:	n/a
47	chr16:75299374-75299424	HMEC	breast:	n/a
48	chr16:75299374-75299424	HRCEpiC	kidney:	n/a
49	chr16:75299374-75299424	Caco-2	colon:	n/a
50	chr16:75299374-75299424	NHDF-neo	bronchial:	n/a

(count:6 , 50 per page) page: 1

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	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
5	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
6	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:

No data

Variant related genes	Relation type
BCAR1	TF binding region
BCAR1	CpG island
ENSG00000184678	Chromatin interaction
ENSG00000184517	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000252101	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75297200-75299400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr16:75297200-75299600	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:75297400-75300400	Active TSS	Aorta	Aorta
4	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:75298400-75300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:75298400-75300200	Active TSS	HSMMtube	muscle
10	chr16:75298400-75300200	Active TSS	NHDF-Ad	bronchial
11	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr16:75298600-75299400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr16:75298600-75300000	Active TSS	Spleen	Spleen
15	chr16:75298600-75300000	Active TSS	HSMM	muscle
16	chr16:75298600-75300000	Active TSS	NHLF	lung
17	chr16:75298600-75300200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:75298600-75300200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr16:75298600-75300200	Active TSS	Ovary	ovary
20	chr16:75298600-75300400	Active TSS	Small Intestine	intestine
21	chr16:75298600-75300600	Active TSS	Fetal Kidney	kidney
22	chr16:75298800-75299400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr16:75298800-75299400	Flanking Active TSS	Esophagus	oesophagus
24	chr16:75298800-75299600	Active TSS	Fetal Heart	heart
25	chr16:75298800-75299600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr16:75298800-75299800	Active TSS	Right Atrium	heart
27	chr16:75298800-75300000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:75298800-75300000	Active TSS	HUVEC	blood vessel
29	chr16:75298800-75300000	Active TSS	NH-A	brain
30	chr16:75298800-75300000	Active TSS	Osteobl	bone
31	chr16:75298800-75300200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr16:75298800-75300200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr16:75298800-75300200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr16:75298800-75300200	Active TSS	Brain Angular Gyrus	brain
35	chr16:75298800-75300200	Active TSS	Brain Anterior Caudate	brain
36	chr16:75298800-75300200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:75298800-75300200	Active TSS	Colon Smooth Muscle	Colon
38	chr16:75298800-75300200	Active TSS	Fetal Lung	lung
39	chr16:75298800-75300200	Active TSS	Left Ventricle	heart
40	chr16:75298800-75300200	Active TSS	Right Ventricle	heart
41	chr16:75298800-75300200	Active TSS	HepG2	liver
42	chr16:75298800-75300400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:75298800-75300400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:75299000-75299400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr16:75299000-75299400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:75299000-75299400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:75299000-75299400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr16:75299000-75299600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr16:75299000-75299600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr16:75299000-75299800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood

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