Variant report

Variant	rs7206347
Chromosome Location	chr16:70488251-70488252
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	BACH1	chr16:70488077-70488980	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr16:70487827-70489022	HepG2	liver:	n/a	chr16:70488363-70488373
3	GTF2F1	chr16:70487627-70488459	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:70487774-70488879	SK-N-MC	brain:	n/a	n/a
5	YY1	chr16:70487885-70488549	SK-N-SH_RA	brain:	n/a	n/a
6	ZBTB33	chr16:70488113-70488690	HCT-116	colon:	n/a	n/a
7	ZNF384	chr16:70487849-70488692	K562	blood:	n/a	n/a
8	POLR2A	chr16:70487797-70488849	Raji	blood:	n/a	n/a
9	CREB1	chr16:70487848-70488868	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:70488232-70488809	U87	brain:	n/a	n/a
11	ETS1	chr16:70487835-70488742	GM12878	blood:	n/a	chr16:70488451-70488464 chr16:70488276-70488289 chr16:70488278-70488285 chr16:70488118-70488133
12	MXI1	chr16:70487791-70488823	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr16:70487865-70488748	K562	blood:	n/a	chr16:70488363-70488373
14	POLR2A	chr16:70488214-70488787	HUVEC	blood vessel:	n/a	n/a
15	TAF1	chr16:70488151-70489005	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr16:70487580-70489095	GM12891	blood:	n/a	n/a
17	MYC	chr16:70487870-70488653	MCF10A-Er-Src	breast:	n/a	chr16:70488363-70488373
18	ZBTB33	chr16:70488085-70488657	HepG2	liver:	n/a	n/a
19	TAF1	chr16:70488233-70488820	HepG2	liver:	n/a	n/a
20	TBP	chr16:70487554-70488312	HepG2	liver:	n/a	n/a
21	CEBPB	chr16:70487835-70489622	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:70487582-70489053	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr16:70487306-70488395	HepG2	liver:	n/a	n/a
24	EP300	chr16:70487762-70488312	HepG2	liver:	n/a	n/a
25	ELK1	chr16:70487866-70488689	GM12878	blood:	n/a	n/a
26	BRCA1	chr16:70487928-70488652	Hela-S3	cervix:	n/a	n/a
27	MAX	chr16:70487798-70489009	HepG2	liver:	n/a	chr16:70488363-70488373
28	ELF1	chr16:70487861-70488785	MCF-7	breast:	n/a	n/a
29	NFIC	chr16:70487724-70488698	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr16:70487807-70489049	ECC-1	luminal epithelium:	n/a	n/a
31	ELF1	chr16:70487837-70488618	A549	lung:	n/a	n/a
32	ZBTB33	chr16:70488018-70488782	SK-N-SH	brain:	n/a	n/a
33	NFIC	chr16:70488179-70488732	ECC-1	luminal epithelium:	n/a	n/a
34	NR2F2	chr16:70487922-70488579	K562	blood:	n/a	n/a
35	MYBL2	chr16:70487647-70488473	HepG2	liver:	n/a	n/a
36	NFIC	chr16:70487793-70488557	HepG2	liver:	n/a	n/a
37	JUN	chr16:70487843-70488497	K562	blood:	n/a	n/a
38	ZEB1	chr16:70488182-70488996	GM12878	blood:	n/a	chr16:70488527-70488540
39	SIX5	chr16:70487717-70488857	A549	lung:	n/a	chr16:70488452-70488461 chr16:70488454-70488463 chr16:70488279-70488288 chr16:70488450-70488464 chr16:70488276-70488290 chr16:70488277-70488286
40	ZNF143	chr16:70487868-70488831	GM12878	blood:	n/a	chr16:70488459-70488474 chr16:70488270-70488288 chr16:70488454-70488463 chr16:70488790-70488808 chr16:70488452-70488470 chr16:70488277-70488286 chr16:70488452-70488461 chr16:70488279-70488288
41	CHD2	chr16:70487919-70488750	GM12878	blood:	n/a	chr16:70488436-70488446
42	POLR2A	chr16:70487814-70488714	MCF10A-Er-Src	breast:	n/a	n/a
43	RCOR1	chr16:70487964-70488418	K562	blood:	n/a	n/a
44	SP1	chr16:70487834-70488635	A549	lung:	n/a	n/a
45	SIX5	chr16:70488069-70488629	K562	blood:	n/a	chr16:70488452-70488461 chr16:70488454-70488463 chr16:70488279-70488288 chr16:70488450-70488464 chr16:70488276-70488290 chr16:70488277-70488286
46	TBP	chr16:70487535-70488620	K562	blood:	n/a	n/a
47	CREB1	chr16:70488177-70488799	A549	lung:	n/a	n/a
48	MAX	chr16:70487850-70488282	K562	blood:	n/a	n/a
49	CHD2	chr16:70487897-70488904	Hela-S3	cervix:	n/a	chr16:70488436-70488446
50	BHLHE40	chr16:70487874-70488316	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70486960..70490351-chr16:70556167..70558867,5	MCF-7	breast:
2	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
3	chr16:70379511..70381084-chr16:70487337..70489597,2	MCF-7	breast:
4	chr16:70486978..70488689-chr16:70557336..70559027,2	MCF-7	breast:
5	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:
6	chr16:70487960..70489638-chr16:70506359..70508682,2	MCF-7	breast:
7	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
8	chr16:70426189..70427824-chr16:70487935..70489664,2	MCF-7	breast:
9	chr16:70390592..70393385-chr16:70487447..70489700,3	MCF-7	breast:
10	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
11	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
12	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
13	chr16:70486101..70489000-chr16:70557661..70559379,2	K562	blood:

Variant related genes	Relation type
FUK	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs11537667	0.95[YRI][hapmap]
rs11859191	1.00[EUR][1000 genomes]
rs11859870	0.84[AMR][1000 genomes]
rs11860870	0.95[YRI][hapmap]
rs11861486	0.84[AMR][1000 genomes]
rs11862053	0.95[YRI][hapmap]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865484	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866378	0.95[YRI][hapmap]
rs16970121	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970133	0.84[AMR][1000 genomes]
rs16970141	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs16970147	0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970149	0.91[AMR][1000 genomes]
rs16970151	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970152	0.91[AMR][1000 genomes]
rs16970153	0.91[AMR][1000 genomes]
rs16970159	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970165	0.91[AMR][1000 genomes]
rs16970169	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970361	0.95[YRI][hapmap]
rs16970609	0.95[YRI][hapmap]
rs17878609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35904382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4999488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56043981	0.81[AMR][1000 genomes]
rs56050266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082018	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56096542	0.81[AMR][1000 genomes]
rs56348821	0.91[AMR][1000 genomes]
rs56836664	0.84[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58055772	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.91[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.81[AMR][1000 genomes]
rs60011151	0.91[AMR][1000 genomes]
rs60045805	0.84[AMR][1000 genomes]
rs60387488	0.91[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60523557	0.81[AMR][1000 genomes]
rs60646112	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes]
rs61284127	0.91[AMR][1000 genomes]
rs61319691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.91[AMR][1000 genomes]
rs6499312	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.81[AMR][1000 genomes]
rs7188864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190536	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190859	1.00[ASN][1000 genomes]
rs7190921	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.91[AMR][1000 genomes]
rs7195567	0.95[YRI][hapmap]
rs7198871	1.00[EUR][1000 genomes]
rs7199346	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	0.84[AMR][1000 genomes]
rs7203761	0.84[AMR][1000 genomes]
rs7205871	0.81[AMR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7205990	0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74024199	0.81[AMR][1000 genomes]
rs74024200	0.81[AMR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026026	0.91[AMR][1000 genomes]
rs74026033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046280	0.81[AMR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051869	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8053040	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs8053657	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8053883	0.85[YRI][hapmap];0.84[AMR][1000 genomes]
rs8054203	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8058735	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8062602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063749	0.95[YRI][hapmap]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:70487200-70489400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:70487400-70488600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:70487400-70489000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:70487400-70489000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr16:70487400-70489200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr16:70487400-70489200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:70487400-70489200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:70487400-70489200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:70487400-70489200	Active TSS	Colonic Mucosa	Colon
10	chr16:70487400-70489200	Active TSS	Rectal Smooth Muscle	rectum
11	chr16:70487400-70489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:70487400-70489400	Active TSS	A549	lung
13	chr16:70487600-70488800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:70487600-70489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:70487600-70489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:70487600-70489000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr16:70487600-70489000	Active TSS	Fetal Muscle Trunk	muscle
18	chr16:70487600-70489000	Active TSS	Stomach Smooth Muscle	stomach
19	chr16:70487600-70489000	Active TSS	Thymus	Thymus
20	chr16:70487600-70489200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr16:70487600-70489200	Active TSS	Brain Angular Gyrus	brain
22	chr16:70487600-70489200	Active TSS	Duodenum Mucosa	Duodenum
23	chr16:70487600-70489200	Active TSS	Right Ventricle	heart
24	chr16:70487600-70489200	Active TSS	HSMMtube	muscle
25	chr16:70487600-70489400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr16:70487600-70489400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70487600-70489400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:70487600-70489400	Active TSS	Fetal Brain Female	brain
29	chr16:70487600-70489400	Active TSS	Fetal Intestine Large	intestine
30	chr16:70487600-70489400	Active TSS	Fetal Kidney	kidney
31	chr16:70487600-70489400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr16:70487600-70489400	Active TSS	Psoas Muscle	Psoas
33	chr16:70487600-70489400	Active TSS	NHDF-Ad	bronchial
34	chr16:70487800-70488600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:70487800-70488800	Active TSS	Fetal Lung	lung
36	chr16:70487800-70488800	Active TSS	Fetal Muscle Leg	muscle
37	chr16:70487800-70488800	Active TSS	Fetal Thymus	thymus
38	chr16:70487800-70489000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr16:70487800-70489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:70487800-70489000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:70487800-70489000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr16:70487800-70489000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr16:70487800-70489000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:70487800-70489000	Active TSS	Brain Hippocampus Middle	brain
45	chr16:70487800-70489000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:70487800-70489000	Active TSS	Fetal Brain Male	brain
47	chr16:70487800-70489000	Active TSS	Fetal Stomach	stomach
48	chr16:70487800-70489000	Active TSS	Stomach Mucosa	stomach
49	chr16:70487800-70489000	Active TSS	HSMM	muscle
50	chr16:70487800-70489200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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