Variant report

Variant	rs114305120
Chromosome Location	chr16:75284598-75284599
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	CTCF	chr16:75284520-75284700	K562	blood:	n/a	n/a
2	RAD21	chr16:75284495-75284744	SK-N-SH_RA	brain:	n/a	chr16:75284722-75284735
3	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
4	CTCF	chr16:75284480-75284630	NHDF-neo	bronchial:	n/a	n/a
5	ZBTB7A	chr16:75284439-75284649	K562	blood:	n/a	n/a
6	NRF1	chr16:75284593-75285101	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr16:75284142-75285653	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:75284341-75284608	A549	lung:	n/a	n/a
9	POLR2A	chr16:75284465-75285955	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:75283441-75286634	HUVEC	blood vessel:	n/a	n/a
11	MAZ	chr16:75284233-75285982	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr16:75284447-75285033	K562	blood:	n/a	n/a
13	SIN3A	chr16:75284228-75286267	H1-hESC	embryonic stem cell:	n/a	chr16:75285604-75285617 chr16:75285486-75285497 chr16:75286024-75286032
14	RFX5	chr16:75284386-75285289	HepG2	liver:	n/a	n/a
15	CTCF	chr16:75284513-75284882	K562	blood:	n/a	n/a
16	ELF1	chr16:75284538-75284972	HepG2	liver:	n/a	chr16:75284824-75284836
17	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr16:75284171-75285736	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
20	POLR2A	chr16:75284474-75285658	ECC-1	luminal epithelium:	n/a	n/a
21	BHLHE40	chr16:75284275-75285442	HepG2	liver:	n/a	chr16:75284384-75284400 chr16:75284817-75284833
22	HEY1	chr16:75284453-75285979	HepG2	liver:	n/a	chr16:75284860-75284875 chr16:75285485-75285500 chr16:75285479-75285494 chr16:75285401-75285416 chr16:75285538-75285553 chr16:75285474-75285489 chr16:75285081-75285096 chr16:75285463-75285478 chr16:75285454-75285469
23	FOSL2	chr16:75284200-75286153	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:75283930-75284667	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr16:75284260-75286113	SK-N-SH	brain:	n/a	chr16:75285346-75285360 chr16:75284722-75284735
26	TAF1	chr16:75284527-75285188	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr16:75284519-75284609	HepG2	liver:	n/a	n/a
29	RAD21	chr16:75284538-75284748	A549	lung:	n/a	chr16:75284722-75284735
30	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:75284340-75285685	MCF10A-Er-Src	breast:	n/a	n/a
32	HEY1	chr16:75284284-75285642	HepG2	liver:	n/a	chr16:75284860-75284875 chr16:75285485-75285500 chr16:75285479-75285494 chr16:75285401-75285416 chr16:75285538-75285553 chr16:75285474-75285489 chr16:75285081-75285096 chr16:75285463-75285478 chr16:75285454-75285469
33	GABPA	chr16:75284423-75284836	H1-hESC	embryonic stem cell:	n/a	n/a
34	RFX5	chr16:75283865-75284664	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr16:75284571-75284623	Medullo	brain:	n/a	n/a
36	POLR2A	chr16:75284236-75285338	HepG2	liver:	n/a	n/a
37	PAX5	chr16:75284566-75284904	GM12892	blood:	n/a	chr16:75284800-75284819
38	HMGN3	chr16:75284524-75285892	K562	blood:	n/a	n/a
39	CTCF	chr16:75284560-75284710	K562	blood:	n/a	n/a
40	MAX	chr16:75284512-75286198	A549	lung:	n/a	n/a
41	TAF1	chr16:75284590-75286116	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:75283492-75286412	HepG2	liver:	n/a	n/a
43	JUND	chr16:75284559-75285066	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:75284307-75286108	A549	lung:	n/a	n/a
45	CTCF	chr16:75284500-75284650	HUVEC	blood vessel:	n/a	n/a
46	RAD21	chr16:75284368-75284814	SK-N-SH_RA	brain:	n/a	chr16:75284722-75284735
47	CTCF	chr16:75284587-75284618	GM19239	blood:	n/a	n/a
48	ELF1	chr16:75284547-75285684	K562	blood:	n/a	chr16:75285536-75285548 chr16:75285494-75285506 chr16:75285318-75285327 chr16:75284824-75284836
49	CEBPD	chr16:75284486-75285945	HepG2	liver:	n/a	n/a
50	RAD21	chr16:75284447-75284715	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
2	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
3	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
4	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:
5	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
6	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
7	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
8	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
9	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
10	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
11	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
12	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000153774	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000168928	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	esv3409818	chr16:75283676-75286424	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 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	chr16:75278200-75284800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr16:75279000-75284600	Enhancers	Fetal Heart	heart
3	chr16:75280000-75284600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:75281200-75284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:75281400-75284600	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr16:75282200-75284600	Flanking Active TSS	Colonic Mucosa	Colon
7	chr16:75282200-75284800	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr16:75283200-75284800	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr16:75283200-75285000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr16:75283200-75285400	Active TSS	HSMMtube	muscle
11	chr16:75283400-75284600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:75283400-75284600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr16:75283600-75284600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:75283600-75284600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr16:75283600-75284600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr16:75283600-75285400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:75283600-75286200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr16:75283800-75284600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:75283800-75284600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr16:75283800-75284600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr16:75283800-75284600	Flanking Active TSS	Ovary	ovary
22	chr16:75283800-75284800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:75283800-75285000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr16:75283800-75285200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:75283800-75285200	Active TSS	Fetal Kidney	kidney
26	chr16:75283800-75285800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:75283800-75285800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:75283800-75285800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr16:75284000-75284600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:75284000-75284600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr16:75284000-75284600	Flanking Active TSS	Placenta	Placenta
32	chr16:75284000-75284600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr16:75284000-75284800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:75284000-75284800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:75284000-75284800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:75284000-75285000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:75284000-75285000	Bivalent/Poised TSS	Thymus	Thymus
38	chr16:75284000-75285200	Bivalent/Poised TSS	HepG2	liver
39	chr16:75284000-75285800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr16:75284000-75285800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:75284000-75285800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr16:75284000-75285800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr16:75284000-75285800	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr16:75284000-75285800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:75284000-75285800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:75284000-75285800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr16:75284000-75285800	Active TSS	Brain Angular Gyrus	brain
48	chr16:75284000-75285800	Active TSS	Duodenum Mucosa	Duodenum
49	chr16:75284000-75285800	Active TSS	Esophagus	oesophagus
50	chr16:75284000-75285800	Active TSS	Pancreas	Pancrea

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