Variant report

Variant	rs752434
Chromosome Location	chr16:72047170-72047171
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	POLR2A	chr16:72047094-72047700	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr16:72046380-72047573	K562	blood:	n/a	chr16:72046663-72046672 chr16:72046661-72046674 chr16:72046662-72046673 chr16:72046662-72046673 chr16:72046665-72046672 chr16:72046663-72046673 chr16:72046661-72046674 chr16:72046664-72046673 chr16:72046665-72046681
3	POLR2A	chr16:72047153-72047332	HepG2	liver:	n/a	n/a
4	NR2F2	chr16:72046862-72047588	K562	blood:	n/a	n/a
5	EP300	chr16:72047105-72047382	K562	blood:	n/a	chr16:72047261-72047270
6	FOS	chr16:72047163-72047615	MCF10A-Er-Src	breast:	n/a	chr16:72047400-72047411 chr16:72047399-72047407
7	CBX3	chr16:72047039-72048216	K562	blood:	n/a	n/a
8	POLR2A	chr16:72047108-72048036	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr16:72047165-72047650	MCF-7	breast:	n/a	chr16:72047434-72047445 chr16:72047434-72047447
10	POLR2A	chr16:72047060-72047355	GM12878	blood:	n/a	n/a
11	JUND	chr16:72047072-72047474	K562	blood:	n/a	chr16:72047400-72047411 chr16:72047399-72047407
12	E2F6	chr16:72046420-72048097	K562	blood:	n/a	n/a
13	FOS	chr16:72046982-72047614	MCF10A-Er-Src	breast:	n/a	chr16:72047400-72047411 chr16:72047399-72047407
14	POLR2A	chr16:72047019-72048462	K562	blood:	n/a	n/a
15	POLR2A	chr16:72045322-72048851	PBDE	blood:	n/a	n/a
16	MYC	chr16:72047102-72047676	MCF10A-Er-Src	breast:	n/a	n/a
17	EGR1	chr16:72047095-72047472	K562	blood:	n/a	n/a
18	POLR2A	chr16:72047118-72047557	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr16:72046993-72048500	MCF10A-Er-Src	breast:	n/a	n/a
20	ELF1	chr16:72047063-72047506	K562	blood:	n/a	chr16:72047258-72047271

No.	Distal block	Cell Line	Cell type
1	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
2	chr16:71927973..71929865-chr16:72045946..72047910,3	MCF-7	breast:
3	chr1:231002470..231005143-chr16:72046924..72048591,2	MCF-7	breast:

Variant related genes	Relation type
DHODH	TF binding region
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000119280	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10048111	0.88[ASN][1000 genomes]
rs1035559	0.80[ASN][1000 genomes]
rs1035560	0.82[ASN][1000 genomes]
rs11642993	0.82[ASN][1000 genomes]
rs11648003	0.83[ASN][1000 genomes]
rs11864188	0.87[ASN][1000 genomes]
rs12599952	0.89[ASN][1000 genomes]
rs1465457	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2012817	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2278027	0.82[ASN][1000 genomes]
rs2878404	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3213420	0.84[ASN][1000 genomes]
rs3213422	0.89[ASN][1000 genomes]
rs3764310	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4788454	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4788456	0.84[EUR][1000 genomes]
rs4788597	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788598	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788600	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7185215	0.81[ASN][1000 genomes]
rs7185407	0.82[ASN][1000 genomes]
rs7186207	0.88[ASN][1000 genomes]
rs7195958	0.86[ASN][1000 genomes]
rs7201491	0.82[ASN][1000 genomes]
rs8048262	0.81[EUR][1000 genomes]
rs8051239	0.88[ASN][1000 genomes]
rs8062895	0.83[EUR][1000 genomes]
rs929866	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72049600	Weak transcription	Aorta	Aorta
2	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
3	chr16:72043200-72047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:72043200-72047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:72043200-72047200	Weak transcription	Adipose Nuclei	Adipose
6	chr16:72043200-72047200	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:72043200-72047200	Weak transcription	Lung	lung
8	chr16:72043200-72047200	Weak transcription	Psoas Muscle	Psoas
9	chr16:72043200-72047200	Weak transcription	HSMMtube	muscle
10	chr16:72043200-72047200	Weak transcription	Osteobl	bone
11	chr16:72043200-72047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:72043200-72047400	Weak transcription	NH-A	brain
13	chr16:72043200-72047800	Weak transcription	Thymus	Thymus
14	chr16:72043200-72048600	Weak transcription	Primary B cells from cord blood	blood
15	chr16:72043200-72049200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:72043200-72049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:72043200-72049400	Weak transcription	Brain Substantia Nigra	brain
18	chr16:72043200-72049400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:72043200-72049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:72043200-72049600	Weak transcription	Fetal Kidney	kidney
21	chr16:72043200-72049800	Weak transcription	Gastric	stomach
22	chr16:72043200-72051000	Weak transcription	Fetal Lung	lung
23	chr16:72043200-72051800	Weak transcription	Fetal Thymus	thymus
24	chr16:72043200-72052200	Weak transcription	Brain Angular Gyrus	brain
25	chr16:72043200-72053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr16:72043200-72054000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:72043200-72054600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:72043200-72054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:72043200-72054800	Weak transcription	Pancreas	Pancrea
30	chr16:72043200-72055000	Weak transcription	Colon Smooth Muscle	Colon
31	chr16:72043200-72055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:72043200-72055200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:72043200-72056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:72043200-72056600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:72043200-72057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:72043200-72057800	Weak transcription	NHDF-Ad	bronchial
37	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:72043400-72051000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:72043600-72050000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
44	chr16:72043800-72047800	Weak transcription	Colonic Mucosa	Colon
45	chr16:72043800-72049200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:72043800-72051200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:72043800-72056800	Weak transcription	HSMM	muscle
48	chr16:72044000-72047400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:72044000-72054800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:72044000-72057400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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