Variant report

Variant	rs561301854
Chromosome Location	chr16:75298875-75298876
allele	C/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	POLR2A	chr16:75298469-75298990	PFSK-1	brain:	n/a	n/a
2	RCOR1	chr16:75298637-75299296	Hela-S3	cervix:	n/a	n/a
3	SIN3A	chr16:75298794-75300213	H1-hESC	embryonic stem cell:	n/a	chr16:75300114-75300127 chr16:75299469-75299482 chr16:75299408-75299421
4	POLR2A	chr16:75297374-75299567	U87	brain:	n/a	n/a
5	NFIC	chr16:75297614-75299402	SK-N-SH	brain:	n/a	n/a
6	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:75297599-75300241	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr16:75298458-75299417	U87	brain:	n/a	n/a
10	POLR2A	chr16:75297540-75300237	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr16:75298860-75299010	AG04449	skin:	n/a	n/a
12	POLR2A	chr16:75298254-75299395	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr16:75297637-75300252	IMR90	lung:	n/a	n/a
14	POLR2A	chr16:75297799-75300232	HUVEC	blood vessel:	n/a	n/a
15	REST	chr16:75298827-75300577	H1-neurons	neurons:	n/a	chr16:75300117-75300130
16	SMARCC1	chr16:75297839-75299515	Hela-S3	cervix:	n/a	chr16:75297950-75297959
17	POLR2A	chr16:75298738-75299451	HUVEC	blood vessel:	n/a	n/a
18	NFIC	chr16:75298512-75299093	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr16:75298367-75299211	U87	brain:	n/a	n/a
20	POLR2A	chr16:75297460-75299386	U87	brain:	n/a	n/a
21	ZBTB7A	chr16:75298719-75300857	ECC-1	luminal epithelium:	n/a	n/a
22	MAZ	chr16:75297263-75301010	IMR90	lung:	n/a	chr16:75300514-75300525
23	SIN3AK20	chr16:75298576-75300848	MCF-7	breast:	n/a	n/a
24	MXI1	chr16:75298731-75300199	HepG2	liver:	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
ENSG00000184517	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000262583	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:116 , 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	chr16:75296600-75299000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:75296600-75299000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr16:75297000-75299000	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr16:75297200-75299000	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr16:75297200-75299000	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr16:75297200-75299200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:75297200-75299200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr16:75297200-75299400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr16:75297200-75299600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr16:75297400-75299000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:75297400-75299000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:75297400-75299200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:75297400-75299200	Flanking Active TSS	Hela-S3	cervix
17	chr16:75297400-75300400	Active TSS	Aorta	Aorta
18	chr16:75297600-75299000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr16:75297600-75299200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr16:75297800-75299200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:75297800-75299200	Flanking Active TSS	Fetal Brain Female	brain
22	chr16:75297800-75299200	Flanking Active TSS	HMEC	breast
23	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr16:75298000-75299000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:75298000-75299000	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr16:75298000-75299000	Flanking Active TSS	Pancreas	Pancrea
27	chr16:75298000-75299000	Flanking Active TSS	A549	lung
28	chr16:75298000-75299200	Flanking Active TSS	Liver	Liver
29	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr16:75298200-75299000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr16:75298200-75299200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr16:75298200-75299200	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr16:75298200-75299200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr16:75298400-75299000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:75298400-75299000	Flanking Active TSS	Fetal Brain Male	brain
38	chr16:75298400-75299200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:75298400-75299200	Flanking Active TSS	NHEK	skin
40	chr16:75298400-75300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:75298400-75300200	Active TSS	HSMMtube	muscle
42	chr16:75298400-75300200	Active TSS	NHDF-Ad	bronchial
43	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:75298600-75299000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr16:75298600-75299000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:75298600-75299000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:75298600-75299000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:75298600-75299000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr16:75298600-75299000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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