Variant report

Variant	rs8047836
Chromosome Location	chr16:31711946-31711947
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	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	chr16:31711833-31712131	GM12891	blood:	n/a	n/a
7	CTCF	chr16:31711800-31711950	AG09319	gingival:	n/a	n/a
8	TAF1	chr16:31711663-31712168	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:31711820-31712031	A549	lung:	n/a	n/a
10	RCOR1	chr16:31711727-31713112	GM12878	blood:	n/a	n/a
11	ELF1	chr16:31711600-31712457	GM12878	blood:	n/a	chr16:31711891-31711904
12	CTCF	chr16:31711860-31712010	WERI-Rb-1	eye:	n/a	n/a
13	MXI1	chr16:31711290-31712628	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr16:31711800-31711950	GM12873	blood:	n/a	n/a
15	CTCF	chr16:31711880-31712030	NHLF	lung:	n/a	n/a
16	POLR2A	chr16:31711795-31712138	Hela-S3	cervix:	n/a	n/a
17	RELA	chr16:31711767-31713199	GM19099	blood:	n/a	n/a
18	REST	chr16:31711405-31712505	H1-neurons	neurons:	n/a	chr16:31712222-31712236 chr16:31711689-31711702 chr16:31712340-31712353
19	GABPA	chr16:31711682-31712349	HepG2	liver:	n/a	n/a
20	GABPA	chr16:31711610-31712247	SK-N-SH	brain:	n/a	n/a
21	ZNF143	chr16:31711874-31711978	K562	blood:	n/a	n/a
22	EP300	chr16:31711741-31712957	GM12878	blood:	n/a	chr16:31712090-31712106 chr16:31712901-31712915 chr16:31712905-31712914
23	POLR2A	chr16:31711681-31712310	GM15510	blood:	n/a	n/a
24	TAF1	chr16:31711830-31712079	GM12891	blood:	n/a	n/a
25	ZNF143	chr16:31711776-31712196	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr16:31711730-31712286	HepG2	liver:	n/a	n/a
27	MYBL2	chr16:31711564-31712919	HepG2	liver:	n/a	n/a
28	CEBPD	chr16:31711701-31712532	HepG2	liver:	n/a	n/a
29	CREB1	chr16:31711626-31712828	HepG2	liver:	n/a	n/a
30	TAF1	chr16:31711749-31712139	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr16:31711709-31712246	GM18505	blood:	n/a	n/a
32	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
33	CTCF	chr16:31711820-31711970	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr16:31711826-31711975	MCF-7	breast:	n/a	n/a
35	CTCF	chr16:31711800-31711950	HPAF	blood vessel:	n/a	n/a
36	POLR2A	chr16:31711717-31712456	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:31711623-31712302	GM12892	blood:	n/a	n/a
38	MAX	chr16:31711616-31712475	K562	blood:	n/a	n/a
39	JUND	chr16:31711699-31712073	K562	blood:	n/a	n/a
40	CTCF	chr16:31711800-31711950	SK-N-SH_RA	brain:	n/a	n/a
41	STAT5A	chr16:31711839-31712115	GM12878	blood:	n/a	n/a
42	CTCF	chr16:31711841-31711949	GM13976	blood:	n/a	n/a
43	CTCF	chr16:31711765-31712026	K562	blood:	n/a	n/a
44	CTCF	chr16:31711736-31711969	Kidney_OC	kidney:	n/a	n/a
45	FOXA1	chr16:31711701-31712063	T-47D	breast:	n/a	n/a
46	YY1	chr16:31711721-31712530	HepG2	liver:	n/a	chr16:31712262-31712273 chr16:31712090-31712101
47	HCFC1	chr16:31711823-31712074	K562	blood:	n/a	n/a
48	CTCF	chr16:31711800-31711950	GM12871	blood:	n/a	n/a
49	POLR2A	chr16:31711698-31712182	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr16:31711800-31711950	WERI-Rb-1	eye:	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	chr16:31084135..31087518-chr16:31711748..31714825,3	MCF-7	breast:
11	chr16:31711865..31714581-chr16:31881690..31883987,3	MCF-7	breast:
12	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260472	TF binding region
ENSG00000260568	TF binding region
CLUHP3	TF binding region
ENSG00000140688	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000259874	Chromatin interaction
ENSG00000261474	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801950	1.00[AMR][1000 genomes]
rs56007329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58461706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017517	1.00[AMR][1000 genomes]
rs74017519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017525	0.83[AFR][1000 genomes]
rs74017527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017534	1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AMR][1000 genomes]
rs9928474	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31711200-31712800	Active TSS	A549	lung
2	chr16:31711400-31712400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:31711400-31712400	Active TSS	Hela-S3	cervix
4	chr16:31711400-31712600	Active TSS	Fetal Brain Female	brain
5	chr16:31711400-31712800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:31711400-31713000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:31711400-31713200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr16:31711400-31713200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr16:31711400-31713400	Active TSS	Fetal Kidney	kidney
10	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:31711600-31712000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr16:31711600-31712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr16:31711600-31712200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:31711600-31712200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:31711600-31712400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:31711600-31712400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:31711600-31712400	Active TSS	Primary T cells from cord blood	blood
19	chr16:31711600-31712400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr16:31711600-31712400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:31711600-31712400	Active TSS	Brain Germinal Matrix	brain
22	chr16:31711600-31712400	Active TSS	Brain Hippocampus Middle	brain
23	chr16:31711600-31712400	Active TSS	Brain Substantia Nigra	brain
24	chr16:31711600-31712400	Active TSS	Colon Smooth Muscle	Colon
25	chr16:31711600-31712400	Active TSS	Fetal Brain Male	brain
26	chr16:31711600-31712400	Active TSS	Fetal Lung	lung
27	chr16:31711600-31712400	Active TSS	Psoas Muscle	Psoas
28	chr16:31711600-31712400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr16:31711600-31712400	Active TSS	Rectal Smooth Muscle	rectum
30	chr16:31711600-31712400	Active TSS	HSMM	muscle
31	chr16:31711600-31712400	Active TSS	K562	blood
32	chr16:31711600-31712400	Active TSS	Osteobl	bone
33	chr16:31711600-31712600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:31711600-31712600	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr16:31711600-31712600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:31711600-31712600	Active TSS	Aorta	Aorta
37	chr16:31711600-31712600	Active TSS	Duodenum Mucosa	Duodenum
38	chr16:31711600-31712600	Active TSS	Left Ventricle	heart
39	chr16:31711600-31712600	Active TSS	Ovary	ovary
40	chr16:31711600-31712600	Active TSS	Pancreas	Pancrea
41	chr16:31711600-31712600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr16:31711600-31712600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr16:31711600-31712600	Active TSS	HMEC	breast
44	chr16:31711600-31712600	Active TSS	NHEK	skin
45	chr16:31711600-31712800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr16:31711600-31712800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:31711600-31712800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:31711600-31712800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:31711600-31712800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:31711600-31712800	Active TSS	Colonic Mucosa	Colon

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