Variant report

Variant	rs183096578
Chromosome Location	chr16:77468283-77468284
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	NANOG	chr16:77468279-77468889	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr16:77468212-77468672	H1-hESC	embryonic stem cell:	n/a	chr16:77468610-77468624 chr16:77468623-77468637 chr16:77468457-77468467
3	CTBP2	chr16:77468212-77469044	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr16:77468209-77468799	H1-hESC	embryonic stem cell:	n/a	chr16:77468460-77468470
5	MAX	chr16:77468282-77468843	ECC-1	luminal epithelium:	n/a	chr16:77468460-77468470
6	RAD21	chr16:77468259-77468644	H1-hESC	embryonic stem cell:	n/a	chr16:77468610-77468624 chr16:77468623-77468637 chr16:77468457-77468467
7	RAD21	chr16:77468197-77468725	ECC-1	luminal epithelium:	n/a	chr16:77468610-77468624 chr16:77468623-77468637 chr16:77468457-77468467
8	RAD21	chr16:77468113-77469203	H1-hESC	embryonic stem cell:	n/a	chr16:77468610-77468624 chr16:77468623-77468637 chr16:77468457-77468467
9	POLR2A	chr16:77468188-77469026	H1-neurons	neurons:	n/a	n/a
10	MXI1	chr16:77468236-77468630	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr16:77468270-77468765	H1-hESC	embryonic stem cell:	n/a	chr16:77468607-77468617 chr16:77468649-77468658 chr16:77468734-77468743
12	CTCF	chr16:77468257-77468638	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr16:77468177-77469628	H1-hESC	embryonic stem cell:	n/a	chr16:77468948-77468957

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:77468277-77468327	SK-N-MC	brain:	n/a
2	chr16:77468277-77468327	HUVEC	blood vessel:	n/a
3	chr16:77468277-77468327	BJ	skin:	n/a
4	chr16:77468277-77468327	AG10803	skin:	n/a
5	chr16:77468277-77468327	RPTEC	kidney:	n/a
6	chr16:77468277-77468327	PrEC	prostate:	n/a
7	chr16:77468277-77468327	ovcar-3	ovarian:	n/a
8	chr16:77468277-77468327	HCT-116	colon:	n/a
9	chr16:77468277-77468327	AG04449	skin:	fetal
10	chr16:77468277-77468327	AG04450	lung:	fetal
11	chr16:77468277-77468327	GM06990	blood:	n/a
12	chr16:77468277-77468327	HPAEpiC	pulmonary alveolar:	n/a
13	chr16:77468277-77468327	GM12892	blood:	n/a
14	chr16:77468277-77468327	AoSMC	blood vessel:	n/a
15	chr16:77468277-77468327	Caco-2	colon:	n/a
16	chr16:77468277-77468327	HCPEpiC	choroid plexus:	n/a
17	chr16:77468277-77468327	K562	blood:	n/a
18	chr16:77468277-77468327	LNCaP	prostate:	n/a
19	chr16:77468277-77468327	A549	lung:	n/a
20	chr16:77468277-77468327	HIPEpiC	eye:	n/a
21	chr16:77468277-77468327	HepG2	liver:	n/a
22	chr16:77468277-77468327	U87	brain:	n/a
23	chr16:77468277-77468327	NH-A	brain:	n/a
24	chr16:77468277-77468327	HCM	heart:	n/a
25	chr16:77468277-77468327	IMR90	lung:	fetal
26	chr16:77468277-77468327	HRCEpiC	kidney:	n/a
27	chr16:77468277-77468327	HRPEpiC	eye:	n/a
28	chr16:77468277-77468327	NHBE	bronchial:	n/a
29	chr16:77468277-77468327	PFSK-1	brain:	n/a
30	chr16:77468277-77468327	BE2_C	brain:	n/a
31	chr16:77468277-77468327	HL-60	blood:	n/a
32	chr16:77468277-77468327	MCF10A-Er-Src	breast:	n/a
33	chr16:77468277-77468327	AG09309	skin:	n/a
34	chr16:77468277-77468327	HRE	kidney:	n/a
35	chr16:77468277-77468327	Hepatocyte	liver:	n/a
36	chr16:77468277-77468327	AG09319	gingival:	n/a
37	chr16:77468277-77468327	NHDF-neo	bronchial:	n/a
38	chr16:77468277-77468327	CMK	blood:	n/a
39	chr16:77468277-77468327	HMEC	breast:	n/a
40	chr16:77468277-77468327	GM12891	blood:	n/a
41	chr16:77468277-77468327	HEEpiC	esophagus:	n/a
42	chr16:77468277-77468327	T-47D	breast:	n/a
43	chr16:77468277-77468327	SK-N-SH_RA	brain:	n/a
44	chr16:77468277-77468327	PANC-1	pancreas:	n/a
45	chr16:77468277-77468327	ProgFib	skin:	n/a
46	chr16:77468277-77468327	HNPCEpiC	eye:	n/a
47	chr16:77468277-77468327	GM12878	blood:	n/a
48	chr16:77468277-77468327	NB4	blood:	n/a
49	chr16:77468277-77468327	MCF-7	breast:	n/a
50	chr16:77468277-77468327	Hela-S3	cervix:	n/a

Variant related genes	Relation type
ADAMTS18	TF binding region
ADAMTS18	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv906957	chr16:77457066-77643421	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv3361728	chr16:77467476-77470324	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77465200-77469200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
2	chr16:77467400-77468600	Flanking Active TSS	HUVEC	blood vessel
3	chr16:77467400-77469200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:77467600-77469200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr16:77467600-77469400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr16:77467600-77469400	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr16:77467800-77469800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr16:77467800-77469800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr16:77468000-77468400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:77468000-77468400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:77468000-77468400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:77468000-77468400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr16:77468000-77468400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr16:77468000-77468800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:77468000-77469200	Active TSS	Ovary	ovary
16	chr16:77468000-77469400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:77468000-77469400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:77468000-77469600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr16:77468000-77469600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:77468000-77469600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr16:77468000-77469800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr16:77468000-77470000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr16:77468200-77468400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:77468200-77468400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr16:77468200-77468400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr16:77468200-77468400	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr16:77468200-77468400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
28	chr16:77468200-77468400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr16:77468200-77468400	Bivalent/Poised TSS	A549	lung
30	chr16:77468200-77468600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:77468200-77468600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr16:77468200-77468800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr16:77468200-77469000	Active TSS	Brain Angular Gyrus	brain
34	chr16:77468200-77469000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:77468200-77469000	Bivalent Enhancer	Esophagus	oesophagus
36	chr16:77468200-77469000	Bivalent Enhancer	Lung	lung
37	chr16:77468200-77469000	Enhancers	Pancreas	Pancrea
38	chr16:77468200-77469200	Active TSS	Brain Anterior Caudate	brain
39	chr16:77468200-77469200	Active TSS	Brain Substantia Nigra	brain
40	chr16:77468200-77469200	Bivalent Enhancer	Fetal Brain Male	brain
41	chr16:77468200-77469200	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr16:77468200-77469400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:77468200-77469400	Bivalent Enhancer	Placenta	Placenta
44	chr16:77468200-77469400	Bivalent/Poised TSS	Thymus	Thymus
45	chr16:77468200-77469600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr16:77468200-77469600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr16:77468200-77469600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr16:77468200-77469600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:77468200-77469800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr16:77468200-77469800	Bivalent Enhancer	Fetal Stomach	stomach

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