Variant report

Variant	rs8048140
Chromosome Location	chr16:73090103-73090104
allele	C/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	ARID3A	chr16:73087215-73090250	HepG2	liver:	n/a	chr16:73088864-73088880
2	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr16:73090056-73090211	ProgFib	skin:	n/a	n/a
4	CEBPB	chr16:73089729-73090385	A549	lung:	n/a	n/a
5	FOSL2	chr16:73089361-73090341	A549	lung:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
6	CHD2	chr16:73087046-73090226	Hela-S3	cervix:	n/a	chr16:73087450-73087460 chr16:73087960-73087970
7	MAFK	chr16:73088569-73090572	Hela-S3	cervix:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
8	ZKSCAN1	chr16:73089256-73090177	Hela-S3	cervix:	n/a	n/a
9	HDAC2	chr16:73089482-73090169	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:73088988-73090646	HepG2	liver:	n/a	n/a
11	TAF1	chr16:73089047-73090867	H1-neurons	neurons:	n/a	n/a
12	FOS	chr16:73089872-73090286	MCF10A-Er-Src	breast:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
13	MAFK	chr16:73089700-73090619	HepG2	liver:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
14	MAFF	chr16:73089662-73090590	HepG2	liver:	n/a	n/a
15	FOXA1	chr16:73089420-73090220	HepG2	liver:	n/a	chr16:73089798-73089810
16	POLR2A	chr16:73089893-73090246	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:73089873-73090191	HepG2	liver:	n/a	n/a
18	HNF4G	chr16:73089252-73090172	HepG2	liver:	n/a	chr16:73089812-73089820
19	EP300	chr16:73089546-73090270	HepG2	liver:	n/a	chr16:73090104-73090118
20	POLR2A	chr16:73089061-73090262	SK-N-SH	brain:	n/a	n/a
21	STAT3	chr16:73089897-73090225	MCF10A-Er-Src	breast:	n/a	chr16:73089957-73089969
22	RFX5	chr16:73089814-73090230	HepG2	liver:	n/a	n/a
23	RCOR1	chr16:73089451-73090128	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:73088440-73091927	MCF10A-Er-Src	breast:	n/a	n/a
25	TAF1	chr16:73089013-73090724	H1-neurons	neurons:	n/a	n/a
26	SMC3	chr16:73089354-73090187	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:73089127-73090168	HepG2	liver:	n/a	n/a
28	GTF2F1	chr16:73089097-73090142	Hela-S3	cervix:	n/a	n/a
29	MBD4	chr16:73089220-73090336	HepG2	liver:	n/a	n/a
30	STAT3	chr16:73089885-73090239	MCF10A-Er-Src	breast:	n/a	chr16:73089957-73089969
31	MAFK	chr16:73089730-73090635	HepG2	liver:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
32	FOXA1	chr16:73089552-73090263	HepG2	liver:	n/a	chr16:73089798-73089810
33	HNF4A	chr16:73089623-73090136	HepG2	liver:	n/a	chr16:73089812-73089820
34	BHLHE40	chr16:73089253-73090123	HepG2	liver:	n/a	n/a
35	STAT3	chr16:73089919-73090250	Hela-S3	cervix:	n/a	chr16:73089957-73089969
36	RCOR1	chr16:73089482-73090220	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
38	MAX	chr16:73089154-73090347	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr16:73089902-73090243	MCF10A-Er-Src	breast:	n/a	chr16:73089957-73089969
40	E2F4	chr16:73089863-73090269	MCF10A-Er-Src	breast:	n/a	n/a
41	CEBPB	chr16:73089898-73090191	HepG2	liver:	n/a	n/a
42	GATA3	chr16:73088505-73090258	MCF-7	breast:	n/a	chr16:73090238-73090249 chr16:73088804-73088815
43	MAFK	chr16:73089824-73090654	IMR90	lung:	n/a	chr16:73090463-73090478 chr16:73090376-73090391
44	HDAC2	chr16:73089125-73090461	HepG2	liver:	n/a	chr16:73089397-73089411
45	FOS	chr16:73089889-73090231	MCF10A-Er-Src	breast:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
46	POLR2A	chr16:73089455-73090487	HepG2	liver:	n/a	n/a
47	FOS	chr16:73089922-73090288	MCF10A-Er-Src	breast:	n/a	chr16:73090050-73090060 chr16:73090050-73090060
48	CEBPB	chr16:73089704-73090186	HepG2	liver:	n/a	n/a
49	EP300	chr16:73089693-73090158	HepG2	liver:	n/a	chr16:73090104-73090118
50	RFX5	chr16:73087062-73090234	Hela-S3	cervix:	n/a	chr16:73088319-73088334

No.	Distal block	Cell Line	Cell type
1	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
2	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
3	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
4	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
5	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
6	chr16:72820675..72822937-chr16:73088411..73090468,2	MCF-7	breast:
7	chr16:72943044..72944852-chr16:73087640..73090258,2	MCF-7	breast:
8	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
9	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
10	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
11	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
12	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
13	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
14	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
15	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
16	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
17	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
18	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
19	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
20	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
21	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271009	TF binding region
ENSG00000272250	TF binding region
ENSG00000095380	Chromatin interaction
ENSG00000265573	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000199753	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4454999	1.00[MEX][hapmap]
rs9934755	1.00[MEX][hapmap];1.00[AMR][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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1819498	chr16:73079212-73092845	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3338026	chr16:73089651-73094249	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv572960	chr16:73090039-73092950	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73085800-73091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:73086400-73091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:73087000-73090800	Enhancers	HMEC	breast
7	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
9	chr16:73087800-73090200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:73087800-73090400	Weak transcription	Ovary	ovary
11	chr16:73087800-73090800	Enhancers	Small Intestine	intestine
12	chr16:73087800-73091400	Weak transcription	Lung	lung
13	chr16:73087800-73099200	Active TSS	Aorta	Aorta
14	chr16:73088200-73091000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr16:73088200-73095200	Active TSS	Right Atrium	heart
16	chr16:73088400-73090400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:73088400-73090600	Bivalent Enhancer	Fetal Thymus	thymus
18	chr16:73088400-73090800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr16:73088400-73090800	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr16:73088400-73091000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
23	chr16:73088600-73090200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr16:73088600-73090800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:73088600-73090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:73088600-73090800	Flanking Active TSS	Fetal Lung	lung
27	chr16:73088600-73090800	Flanking Active TSS	Hela-S3	cervix
28	chr16:73088600-73091000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:73088600-73091000	Enhancers	Fetal Heart	heart
30	chr16:73088600-73091000	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr16:73088600-73091000	Bivalent Enhancer	Dnd41	blood
32	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
33	chr16:73088800-73090400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr16:73088800-73090400	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr16:73088800-73091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
38	chr16:73089000-73090200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr16:73089000-73090200	Active TSS	A549	lung
40	chr16:73089200-73090200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr16:73089200-73090600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr16:73089200-73090800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:73089200-73090800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
47	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr16:73089400-73090200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr16:73089400-73090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:73089400-73091200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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