Variant report

Variant	rs8049323
Chromosome Location	chr16:31711742-31711743
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	chr16:31711600-31712166	HCT-116	colon:	n/a	n/a
2	POLR2A	chr16:31711740-31712145	GM12891	blood:	n/a	n/a
3	E2F4	chr16:31711714-31712051	MCF10A-Er-Src	breast:	n/a	n/a
4	NFYA	chr16:31711557-31712160	Hela-S3	cervix:	n/a	n/a
5	TAF1	chr16:31711703-31712214	GM12878	blood:	n/a	n/a
6	TAF1	chr16:31711663-31712168	MCF-7	breast:	n/a	n/a
7	CTCF	chr16:31711740-31711890	GM12871	blood:	n/a	n/a
8	RCOR1	chr16:31711727-31713112	GM12878	blood:	n/a	n/a
9	ELF1	chr16:31711600-31712457	GM12878	blood:	n/a	chr16:31711891-31711904
10	MXI1	chr16:31711290-31712628	SK-N-SH	brain:	n/a	n/a
11	REST	chr16:31711405-31712505	H1-neurons	neurons:	n/a	chr16:31712222-31712236 chr16:31711689-31711702 chr16:31712340-31712353
12	GABPA	chr16:31711682-31712349	HepG2	liver:	n/a	n/a
13	GABPA	chr16:31711610-31712247	SK-N-SH	brain:	n/a	n/a
14	EP300	chr16:31711741-31712957	GM12878	blood:	n/a	chr16:31712090-31712106 chr16:31712901-31712915 chr16:31712905-31712914
15	POLR2A	chr16:31711681-31712310	GM15510	blood:	n/a	n/a
16	MAX	chr16:31711730-31712286	HepG2	liver:	n/a	n/a
17	MYBL2	chr16:31711564-31712919	HepG2	liver:	n/a	n/a
18	CEBPD	chr16:31711701-31712532	HepG2	liver:	n/a	n/a
19	CREB1	chr16:31711626-31712828	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:31711709-31712246	GM18505	blood:	n/a	n/a
21	SP1	chr16:31711570-31712850	HepG2	liver:	n/a	chr16:31711808-31711820 chr16:31711809-31711818 chr16:31711808-31711819 chr16:31711805-31711819 chr16:31711808-31711820 chr16:31711810-31711819
22	CTCF	chr16:31711740-31711890	GM12873	blood:	n/a	n/a
23	POLR2A	chr16:31711717-31712456	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:31711623-31712302	GM12892	blood:	n/a	n/a
25	MAX	chr16:31711616-31712475	K562	blood:	n/a	n/a
26	JUND	chr16:31711699-31712073	K562	blood:	n/a	n/a
27	CTCF	chr16:31711736-31711969	Kidney_OC	kidney:	n/a	n/a
28	FOXA1	chr16:31711701-31712063	T-47D	breast:	n/a	n/a
29	YY1	chr16:31711721-31712530	HepG2	liver:	n/a	chr16:31712262-31712273 chr16:31712090-31712101
30	POLR2A	chr16:31711698-31712182	ECC-1	luminal epithelium:	n/a	n/a
31	NRF1	chr16:31711717-31712064	GM12878	blood:	n/a	n/a
32	ELF1	chr16:31711682-31712162	K562	blood:	n/a	chr16:31711891-31711904
33	MYC	chr16:31711623-31711989	MCF10A-Er-Src	breast:	n/a	n/a
34	PBX3	chr16:31711495-31712094	SK-N-SH	brain:	n/a	n/a
35	STAT3	chr16:31711607-31713041	GM12878	blood:	n/a	chr16:31712682-31712693
36	PBX3	chr16:31711654-31711893	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:31711684-31712632	HepG2	liver:	n/a	n/a
38	MAX	chr16:31711592-31712296	K562	blood:	n/a	n/a
39	NFYA	chr16:31711592-31712259	K562	blood:	n/a	n/a
40	GATA3	chr16:31711614-31711991	T-47D	breast:	n/a	n/a
41	POLR2A	chr16:31711625-31712473	GM19193	blood:	n/a	n/a
42	CHD2	chr16:31711696-31712058	K562	blood:	n/a	n/a
43	RCOR1	chr16:31711669-31712064	K562	blood:	n/a	n/a
44	POLR2A	chr16:31711704-31712201	GM12892	blood:	n/a	n/a
45	POLR2A	chr16:31711681-31712283	GM12878	blood:	n/a	n/a
46	MYC	chr16:31711737-31712493	K562	blood:	n/a	n/a
47	ELF1	chr16:31711615-31712274	MCF-7	breast:	n/a	chr16:31711891-31711904
48	MAX	chr16:31711708-31712665	GM12878	blood:	n/a	n/a
49	TBP	chr16:31711742-31712062	K562	blood:	n/a	n/a
50	CHD2	chr16:31711639-31712105	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
2	chr16:31466906..31472700-chr16:31708858..31713293,7	K562	blood:
3	chr16:31467446..31470732-chr16:31710400..31715735,8	MCF-7	breast:
4	chr16:31461791..31465171-chr16:31706376..31712369,7	MCF-7	breast:
5	chr16:31508144..31510605-chr16:31709945..31712563,2	MCF-7	breast:
6	chr16:31462018..31465168-chr16:31706757..31713127,6	MCF-7	breast:
7	chr16:31467289..31472159-chr16:31708858..31713201,6	K562	blood:
8	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:
9	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
10	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf58-4	chr16:31711681-31711786	ENSG00000260568.1

Variant related genes	Relation type
ENSG00000260472	TF binding region
CLUHP3	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10871458	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150638	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156903	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12324951	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447780	0.83[ASN][1000 genomes]
rs12716999	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12717000	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406177	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528319	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534507	0.86[ASN][1000 genomes]
rs1852666	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1881316	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1919040	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1919042	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078924	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2106579	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106581	1.00[ASN][1000 genomes]
rs2157970	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178179	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2188619	0.83[AMR][1000 genomes]
rs2222754	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2359219	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2359222	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2359226	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28427454	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620975	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4889553	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4889555	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889688	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889689	0.82[AMR][1000 genomes]
rs4889693	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62054710	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6565267	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6565269	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6565275	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565278	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565280	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565282	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565285	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6565286	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565287	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67922432	0.81[AMR][1000 genomes]
rs7188627	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7190730	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191481	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7206536	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs727349	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053712	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8060086	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8062424	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8062902	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916753	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929208	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921546	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9921898	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9928006	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9929892	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930700	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936002	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938037	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31705000-31711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:31707800-31711800	Weak transcription	Lung	lung
3	chr16:31708000-31711800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:31708000-31711800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:31708000-31711800	Weak transcription	Thymus	Thymus
6	chr16:31708000-31711800	Weak transcription	Spleen	Spleen
7	chr16:31708400-31711800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:31708600-31711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:31711200-31712800	Active TSS	A549	lung
10	chr16:31711400-31711800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:31711400-31711800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:31711400-31711800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:31711400-31712400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:31711400-31712400	Active TSS	Hela-S3	cervix
15	chr16:31711400-31712600	Active TSS	Fetal Brain Female	brain
16	chr16:31711400-31712800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:31711400-31713000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:31711400-31713200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr16:31711400-31713200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:31711400-31713400	Active TSS	Fetal Kidney	kidney
21	chr16:31711600-31711800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:31711600-31711800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:31711600-31711800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:31711600-31711800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr16:31711600-31711800	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr16:31711600-31711800	Enhancers	Primary hematopoietic stem cells	blood
27	chr16:31711600-31711800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr16:31711600-31711800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr16:31711600-31711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:31711600-31711800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr16:31711600-31711800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:31711600-31711800	Active TSS	Adipose Nuclei	Adipose
33	chr16:31711600-31711800	Flanking Active TSS	Liver	Liver
34	chr16:31711600-31711800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr16:31711600-31711800	Enhancers	Fetal Intestine Small	intestine
36	chr16:31711600-31711800	Bivalent Enhancer	Placenta	Placenta
37	chr16:31711600-31711800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr16:31711600-31711800	Flanking Active TSS	Fetal Thymus	thymus
39	chr16:31711600-31711800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr16:31711600-31711800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr16:31711600-31711800	Active TSS	HepG2	liver
42	chr16:31711600-31711800	Bivalent Enhancer	NH-A	brain
43	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:31711600-31712000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr16:31711600-31712200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:31711600-31712200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:31711600-31712400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:31711600-31712400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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