Variant report

Variant	rs1065158
Chromosome Location	chr16:70380909-70380910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:521)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr16:70380334-70381471	GM12878	blood:	n/a	n/a
2	MYC	chr16:70380459-70381087	K562	blood:	n/a	n/a
3	MAX	chr16:70380423-70381252	SK-N-SH	brain:	n/a	n/a
4	ZBTB33	chr16:70380425-70380998	GM12878	blood:	n/a	chr16:70380676-70380683 chr16:70380667-70380682 chr16:70380823-70380830
5	POU2F2	chr16:70380523-70380988	GM12878	blood:	n/a	n/a
6	YY1	chr16:70380515-70381070	ECC-1	luminal epithelium:	n/a	n/a
7	CHD2	chr16:70380481-70381329	GM12878	blood:	n/a	n/a
8	ELF1	chr16:70380535-70381086	HepG2	liver:	n/a	chr16:70380784-70380797
9	YY1	chr16:70380511-70381009	GM12891	blood:	n/a	n/a
10	EP300	chr16:70380524-70381204	A549	lung:	n/a	n/a
11	HEY1	chr16:70380438-70381560	K562	blood:	n/a	chr16:70380761-70380770 chr16:70380763-70380772
12	SRF	chr16:70380510-70380964	K562	blood:	n/a	n/a
13	POLR2A	chr16:70380473-70381456	HepG2	liver:	n/a	n/a
14	GABPA	chr16:70380446-70381343	SK-N-SH	brain:	n/a	n/a
15	TAF1	chr16:70380449-70381103	GM12892	blood:	n/a	n/a
16	SP1	chr16:70380548-70380968	GM12878	blood:	n/a	n/a
17	CREB1	chr16:70380350-70381538	GM12878	blood:	n/a	chr16:70380760-70380773
18	POLR2A	chr16:70380533-70381226	GM10847	blood:	n/a	n/a
19	BHLHE40	chr16:70380582-70381261	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:70379855-70381450	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr16:70380540-70381302	GM12878	blood:	n/a	n/a
22	MYC	chr16:70380547-70381043	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr16:70380318-70381238	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:70380428-70381417	GM12891	blood:	n/a	n/a
25	MBD4	chr16:70380410-70381124	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:70380364-70381329	K562	blood:	n/a	n/a
27	POU2F2	chr16:70380550-70381051	GM12878	blood:	n/a	n/a
28	MBD4	chr16:70380527-70381604	HepG2	liver:	n/a	n/a
29	ELK4	chr16:70380662-70381036	HEK293	kidney:	n/a	chr16:70380783-70380794 chr16:70380785-70380794 chr16:70380786-70380794
30	TAF1	chr16:70380419-70381195	K562	blood:	n/a	n/a
31	POLR2A	chr16:70380480-70381099	HepG2	liver:	n/a	n/a
32	CREB1	chr16:70380431-70381206	ECC-1	luminal epithelium:	n/a	chr16:70380760-70380773
33	TAF1	chr16:70380513-70381127	GM12892	blood:	n/a	n/a
34	SIN3AK20	chr16:70380535-70381121	HepG2	liver:	n/a	n/a
35	MYC	chr16:70380529-70381079	K562	blood:	n/a	n/a
36	YY1	chr16:70380341-70381122	GM12878	blood:	n/a	n/a
37	MAX	chr16:70380334-70381591	HCT-116	colon:	n/a	n/a
38	USF1	chr16:70380588-70380943	K562	blood:	n/a	n/a
39	TCF12	chr16:70380431-70381270	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr16:70380457-70381185	GM18526	blood:	n/a	n/a
41	ZBTB33	chr16:70380482-70380997	HCT-116	colon:	n/a	chr16:70380676-70380683 chr16:70380667-70380682 chr16:70380823-70380830
42	RELA	chr16:70380498-70381294	GM15510	blood:	n/a	n/a
43	POLR2A	chr16:70380227-70381626	PFSK-1	brain:	n/a	n/a
44	NFIC	chr16:70380422-70381113	HepG2	liver:	n/a	n/a
45	ZBTB33	chr16:70380416-70380975	HepG2	liver:	n/a	chr16:70380676-70380683 chr16:70380667-70380682 chr16:70380823-70380830
46	SP1	chr16:70380416-70381110	A549	lung:	n/a	n/a
47	ELF1	chr16:70380589-70381071	SK-N-SH	brain:	n/a	chr16:70380784-70380797
48	RFX5	chr16:70380513-70381366	Hela-S3	cervix:	n/a	n/a
49	EBF1	chr16:70380573-70381173	GM12878	blood:	n/a	n/a
50	ATF2	chr16:70380507-70381065	H1-hESC	embryonic stem cell:	n/a	chr16:70380761-70380772

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70380888-70380938	K562	blood:	n/a
2	chr16:70380888-70380938	AG10803	skin:	n/a
3	chr16:70380888-70380938	NH-A	brain:	n/a
4	chr16:70380888-70380938	H1-hESC	embryonic stem cell:	embryo
5	chr16:70380888-70380938	A549	lung:	n/a
6	chr16:70380888-70380938	AG04450	lung:	fetal
7	chr16:70380888-70380938	HRCEpiC	kidney:	n/a
8	chr16:70380888-70380938	SK-N-MC	brain:	n/a
9	chr16:70380888-70380938	SK-N-SH	brain:	n/a
10	chr16:70380888-70380938	CMK	blood:	n/a
11	chr16:70380888-70380938	HIPEpiC	eye:	n/a
12	chr16:70380888-70380938	ProgFib	skin:	n/a
13	chr16:70380888-70380938	NB4	blood:	n/a
14	chr16:70380888-70380938	HEK293	kidney:	embryo
15	chr16:70380888-70380938	RPTEC	kidney:	n/a
16	chr16:70380888-70380938	BJ	skin:	n/a
17	chr16:70380888-70380938	SK-N-SH_RA	brain:	n/a
18	chr16:70380888-70380938	T-47D	breast:	n/a
19	chr16:70380888-70380938	PrEC	prostate:	n/a
20	chr16:70380888-70380938	MCF-7	breast:	n/a
21	chr16:70380888-70380938	PFSK-1	brain:	n/a
22	chr16:70380888-70380938	AoSMC	blood vessel:	n/a
23	chr16:70380888-70380938	ovcar-3	ovarian:	n/a
24	chr16:70380888-70380938	HPAEpiC	pulmonary alveolar:	n/a
25	chr16:70380888-70380938	IMR90	lung:	fetal
26	chr16:70380888-70380938	LNCaP	prostate:	n/a
27	chr16:70380888-70380938	Jurkat	blood:	n/a
28	chr16:70380888-70380938	HNPCEpiC	eye:	n/a
29	chr16:70380888-70380938	AG09309	skin:	n/a
30	chr16:70380888-70380938	HepG2	liver:	n/a
31	chr16:70380888-70380938	PANC-1	pancreas:	n/a
32	chr16:70380888-70380938	NHDF-neo	bronchial:	n/a
33	chr16:70380888-70380938	GM06990	blood:	n/a
34	chr16:70380888-70380938	HMEC	breast:	n/a
35	chr16:70380888-70380938	MCF10A-Er-Src	breast:	n/a
36	chr16:70380888-70380938	AG04449	skin:	fetal
37	chr16:70380888-70380938	HCT-116	colon:	n/a
38	chr16:70380888-70380938	HCPEpiC	choroid plexus:	n/a
39	chr16:70380888-70380938	Hela-S3	cervix:	n/a
40	chr16:70380888-70380938	GM12891	blood:	n/a
41	chr16:70380888-70380938	HCF	heart:	n/a
42	chr16:70380888-70380938	AG09319	gingival:	n/a
43	chr16:70380888-70380938	NHBE	bronchial:	n/a
44	chr16:70380888-70380938	NT2-D1	testis:	n/a
45	chr16:70380888-70380938	HCM	heart:	n/a
46	chr16:70380888-70380938	ECC-1	luminal epithelium:	n/a
47	chr16:70380888-70380938	GM12878	blood:	n/a
48	chr16:70380888-70380938	HAEpiC	amniotic membrane:	n/a
49	chr16:70380888-70380938	BE2_C	brain:	n/a
50	chr16:70380888-70380938	HRE	kidney:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:61583398..61584153-chr16:70380735..70381273,2	Hela-S3	cervix:
2	chr16:70379903..70382135-chr16:70398083..70399782,2	MCF-7	breast:
3	chr16:70380198..70381196-chr5:179050297..179050905,3	Hela-S3	cervix:
4	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
5	chr16:70380243..70381157-chr7:72936224..72937111,2	Hela-S3	cervix:
6	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
7	chr14:58711561..58712466-chr16:70380477..70381118,2	Hela-S3	cervix:
8	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
9	chr16:70380316..70381242-chr7:44886810..44887807,2	Hela-S3	cervix:
10	chr16:70379206..70382816-chr16:70556059..70558953,4	K562	blood:
11	chr16:70380595..70381130-chr20:47894817..47895708,2	Hela-S3	cervix:
12	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
13	chr16:11836059..11836968-chr16:70380587..70381246,2	Hela-S3	cervix:
14	chr16:70379511..70381084-chr16:70487337..70489597,2	MCF-7	breast:
15	chr12:46765086..46765689-chr16:70380707..70381691,2	Hela-S3	cervix:
16	chr16:70379157..70381349-chr16:70561785..70563465,2	MCF-7	breast:
17	chr16:70380612..70382422-chr16:70687697..70689426,2	MCF-7	breast:
18	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
19	chr16:70332853..70335232-chr16:70378695..70381623,2	K562	blood:
20	chr16:70321709..70323528-chr16:70379604..70382270,2	MCF-7	breast:
21	chr16:70380684..70382354-chr16:70595667..70598602,2	MCF-7	breast:
22	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:
23	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:
24	chr14:69261001..69262599-chr16:70379139..70381962,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261777	TF binding region
ENSG00000261777	CpG island
ENSG00000103051	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000009954	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000105968	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000100567	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000221514	Chromatin interaction
ENSG00000153066	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17881323	1.00[LWK][hapmap]
rs9921477	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70379600-70381600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:70379600-70382000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:70379600-70382000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:70379600-70382000	Active TSS	A549	lung
5	chr16:70379600-70382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:70379800-70381200	Active TSS	Fetal Kidney	kidney
7	chr16:70379800-70381200	Active TSS	Gastric	stomach
8	chr16:70379800-70381400	Active TSS	Fetal Lung	lung
9	chr16:70379800-70381600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr16:70379800-70381600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr16:70379800-70381600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:70379800-70381600	Active TSS	Brain Hippocampus Middle	brain
13	chr16:70379800-70381800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:70379800-70382000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr16:70379800-70382000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:70379800-70382000	Active TSS	NHLF	lung
17	chr16:70379800-70382200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:70379800-70382200	Active TSS	NH-A	brain
19	chr16:70379800-70382400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:70380000-70381400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:70380000-70381400	Active TSS	Fetal Brain Female	brain
22	chr16:70380000-70381400	Active TSS	Left Ventricle	heart
23	chr16:70380000-70381600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:70380000-70381600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:70380000-70381600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:70380000-70381600	Active TSS	Fetal Muscle Leg	muscle
27	chr16:70380000-70381600	Active TSS	Placenta	Placenta
28	chr16:70380000-70381600	Active TSS	Ovary	ovary
29	chr16:70380000-70381800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:70380000-70381800	Active TSS	Colonic Mucosa	Colon
31	chr16:70380000-70381800	Active TSS	GM12878-XiMat	blood
32	chr16:70380000-70382000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr16:70380000-70382000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:70380000-70382000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr16:70380000-70382200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr16:70380000-70382200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70380000-70382200	Active TSS	Psoas Muscle	Psoas
38	chr16:70380200-70381000	Active TSS	Primary T cells from cord blood	blood
39	chr16:70380200-70381000	Active TSS	Duodenum Mucosa	Duodenum
40	chr16:70380200-70381000	Active TSS	Stomach Smooth Muscle	stomach
41	chr16:70380200-70381200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:70380200-70381200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr16:70380200-70381200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr16:70380200-70381200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:70380200-70381200	Active TSS	Adipose Nuclei	Adipose
46	chr16:70380200-70381200	Active TSS	Liver	Liver
47	chr16:70380200-70381200	Active TSS	Brain Angular Gyrus	brain
48	chr16:70380200-70381200	Active TSS	Brain Cingulate Gyrus	brain
49	chr16:70380200-70381200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr16:70380200-70381200	Active TSS	Brain Substantia Nigra	brain

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