Variant report

Variant	rs8062907
Chromosome Location	chr16:30668646-30668647
allele	C/G/T
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	MAX	chr16:30668608-30671540	K562	blood:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
2	POLR2A	chr16:30668093-30671519	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr16:30668555-30671681	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr16:30668573-30670993	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:30668106-30672800	GM12892	blood:	n/a	n/a
6	CTCF	chr16:30668199-30671058	SK-N-SH	brain:	n/a	chr16:30670620-30670633
7	POLR2A	chr16:30668584-30669387	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:30667975-30671753	K562	blood:	n/a	n/a
9	POLR2A	chr16:30668636-30670604	HepG2	liver:	n/a	n/a
10	NR2F2	chr16:30668560-30670591	K562	blood:	n/a	n/a
11	POLR2A	chr16:30668198-30673294	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:30668637-30670785	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr16:30668247-30670906	GM12892	blood:	n/a	n/a
14	POLR2A	chr16:30668645-30671634	MCF-7	breast:	n/a	n/a
15	POLR2A	chr16:30668603-30669484	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr16:30668606-30669474	U87	brain:	n/a	n/a
17	POLR2A	chr16:30668561-30670937	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr16:30668547-30670993	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:30668630-30671685	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr16:30667883-30670980	HepG2	liver:	n/a	n/a
21	MTA3	chr16:30668561-30670721	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:30668323-30668792	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:30668613-30670842	U87	brain:	n/a	n/a
24	MAZ	chr16:30668538-30672392	IMR90	lung:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
25	POLR2A	chr16:30668566-30671961	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:30668350-30670859	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr16:30668549-30671672	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr16:30668561-30670872	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr16:30668601-30671762	K562	blood:	n/a	n/a
30	TEAD4	chr16:30668637-30670644	K562	blood:	n/a	n/a
31	CREB1	chr16:30668620-30671449	HepG2	liver:	n/a	n/a
32	HCFC1	chr16:30668484-30672437	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:30668550-30670576	GM12892	blood:	n/a	n/a
34	NRF1	chr16:30668509-30670946	SK-N-SH	brain:	n/a	chr16:30669224-30669238 chr16:30669319-30669328 chr16:30669227-30669241 chr16:30669317-30669328 chr16:30669227-30669238 chr16:30669317-30669331 chr16:30669226-30669237
35	NFATC1	chr16:30668641-30670570	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:30668576-30670842	U87	brain:	n/a	n/a
37	POLR2A	chr16:30668320-30670794	GM12892	blood:	n/a	n/a
38	POLR2A	chr16:30668533-30670919	GM12891	blood:	n/a	n/a
39	PBX3	chr16:30668616-30670824	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr16:30668593-30669483	U87	brain:	n/a	n/a
41	SIN3AK20	chr16:30668499-30670875	MCF-7	breast:	n/a	n/a
42	MXI1	chr16:30668597-30672046	SK-N-SH	brain:	n/a	chr16:30668891-30668906
43	SP1	chr16:30668532-30670859	HCT-116	colon:	n/a	chr16:30669581-30669595 chr16:30670015-30670024 chr16:30669659-30669673 chr16:30670020-30670034 chr16:30669515-30669527 chr16:30670083-30670090 chr16:30669659-30669668 chr16:30669515-30669527 chr16:30670433-30670440 chr16:30670016-30670025 chr16:30669658-30669670 chr16:30670539-30670546 chr16:30670014-30670026 chr16:30669584-30669596 chr16:30670228-30670242 chr16:30670014-30670026 chr16:30669786-30669797 chr16:30669517-30669526 chr16:30669492-30669513 chr16:30670019-30670031 chr16:30669658-30669670 chr16:30669512-30669526 chr16:30670015-30670024 chr16:30670020-30670029
44	MYC	chr16:30668609-30670822	A549	lung:	n/a	chr16:30670803-30670813 chr16:30670487-30670497 chr16:30669313-30669322
45	HEY1	chr16:30668605-30670914	HepG2	liver:	n/a	chr16:30670758-30670773 chr16:30670609-30670624 chr16:30670751-30670766 chr16:30670819-30670834
46	POLR2A	chr16:30668254-30670638	HL-60	blood:	n/a	n/a
47	USF1	chr16:30668638-30668900	K562	blood:	n/a	n/a
48	MXI1	chr16:30668605-30672465	IMR90	lung:	n/a	chr16:30668891-30668906
49	PML	chr16:30668571-30670884	GM12878	blood:	n/a	n/a
50	POU2F2	chr16:30668544-30670511	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30581443..30584852-chr16:30667885..30670811,3	MCF-7	breast:
2	chr16:30545060..30546594-chr16:30668041..30670734,2	K562	blood:
3	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
4	chr16:30668135..30670286-chr16:30783767..30786640,2	K562	blood:
5	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
6	chr16:30440759..30443280-chr16:30667906..30669933,3	K562	blood:
7	chr16:30439809..30442379-chr16:30667101..30669442,3	MCF-7	breast:
8	chr16:30668245..30671978-chr16:30750248..30754870,9	MCF-7	breast:
9	chr16:30666829..30670641-chr16:30932372..30935048,3	K562	blood:
10	chr16:30439963..30442259-chr16:30667570..30669933,2	K562	blood:
11	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
12	chr16:30595796..30598242-chr16:30667877..30670406,3	MCF-7	breast:
13	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
14	chr16:30365632..30367992-chr16:30667854..30670358,2	MCF-7	breast:
15	chr16:30667897..30670733-chr16:30759554..30761748,2	K562	blood:
16	chr16:30537270..30540938-chr16:30667776..30670897,3	K562	blood:
17	chr16:30626410..30628513-chr16:30668495..30670548,2	K562	blood:
18	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
19	chr16:30389121..30392604-chr16:30668490..30671197,4	K562	blood:
20	chr16:30666829..30669508-chr16:30932265..30935039,3	K562	blood:
21	chr16:30568254..30570090-chr16:30667629..30670948,3	K562	blood:
22	chr16:30439350..30443248-chr16:30667549..30670129,3	MCF-7	breast:
23	chr16:30535862..30538141-chr16:30667987..30671632,3	K562	blood:

Variant related genes	Relation type
FBRS	TF binding region
ENSG00000239791	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000260678	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000261459	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs4889515	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8045936	1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs9924071	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
10	nsv905730	chr16:30667031-30681816	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv905731	chr16:30667031-30685089	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30663600-30668800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:30664000-30669200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:30667200-30668800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:30667200-30668800	Genic enhancers	Fetal Thymus	thymus
5	chr16:30667400-30668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:30667600-30668800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:30667600-30669800	Weak transcription	Aorta	Aorta
8	chr16:30667600-30669800	Weak transcription	Ovary	ovary
9	chr16:30668000-30668800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr16:30668000-30668800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr16:30668000-30668800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr16:30668000-30668800	Enhancers	Gastric	stomach
13	chr16:30668000-30668800	Genic enhancers	Thymus	Thymus
14	chr16:30668000-30669000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:30668200-30668800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:30668200-30668800	Enhancers	Primary B cells from cord blood	blood
17	chr16:30668200-30668800	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:30668200-30668800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:30668200-30668800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr16:30668200-30668800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:30668200-30668800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:30668200-30668800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:30668200-30668800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:30668200-30668800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:30668200-30668800	Enhancers	Fetal Heart	heart
26	chr16:30668200-30668800	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:30668200-30668800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
28	chr16:30668200-30668800	Weak transcription	Spleen	Spleen
29	chr16:30668200-30669000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:30668200-30669200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr16:30668200-30669200	Flanking Active TSS	Dnd41	blood
32	chr16:30668400-30668800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:30668400-30668800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:30668400-30668800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:30668400-30668800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:30668400-30668800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr16:30668400-30668800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:30668400-30668800	Enhancers	Colon Smooth Muscle	Colon
39	chr16:30668400-30668800	Genic enhancers	Fetal Stomach	stomach
40	chr16:30668400-30668800	Enhancers	Right Atrium	heart
41	chr16:30668400-30668800	Enhancers	Small Intestine	intestine
42	chr16:30668400-30668800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr16:30668400-30668800	Enhancers	HUVEC	blood vessel
44	chr16:30668400-30669000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr16:30668400-30669000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:30668400-30669000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr16:30668400-30669200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:30668400-30669200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:30668400-30669200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr16:30668400-30669200	Flanking Active TSS	Colonic Mucosa	Colon

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