Variant report

Variant	rs12930787
Chromosome Location	chr16:30381303-30381304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr16:30381199-30381931	K562	blood:	n/a	n/a
2	YY1	chr16:30381231-30381922	GM12878	blood:	n/a	chr16:30381545-30381559
3	MXI1	chr16:30379257-30383440	SK-N-SH	brain:	n/a	n/a
4	SIN3A	chr16:30380707-30382715	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr16:30381301-30381641	K562	blood:	n/a	n/a
6	POLR2A	chr16:30381229-30381897	A549	lung:	n/a	n/a
7	SIN3AK20	chr16:30380886-30382001	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr16:30381230-30381982	HepG2	liver:	n/a	n/a
9	ZBTB7A	chr16:30381260-30381968	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr16:30380921-30381879	K562	blood:	n/a	n/a
11	YY1	chr16:30381226-30381685	GM12878	blood:	n/a	chr16:30381545-30381559
12	UBTF	chr16:30380566-30381749	K562	blood:	n/a	n/a
13	HDAC2	chr16:30381269-30381943	HepG2	liver:	n/a	n/a
14	YY1	chr16:30381288-30381943	K562	blood:	n/a	chr16:30381545-30381559
15	POLR2A	chr16:30380285-30381989	K562	blood:	n/a	n/a
16	HCFC1	chr16:30379515-30382955	Hela-S3	cervix:	n/a	n/a
17	ZBTB7A	chr16:30380763-30381926	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr16:30381140-30381938	HepG2	liver:	n/a	chr16:30381545-30381559
19	FOXA1	chr16:30381291-30382644	HepG2	liver:	n/a	n/a
20	CEBPD	chr16:30381271-30381897	HepG2	liver:	n/a	n/a
21	YY1	chr16:30381200-30381901	GM12892	blood:	n/a	chr16:30381545-30381559
22	CTCF	chr16:30381200-30381350	GM12866	blood:	n/a	n/a
23	YY1	chr16:30381291-30381630	SK-N-SH_RA	brain:	n/a	chr16:30381545-30381559
24	CREB1	chr16:30381152-30382878	HepG2	liver:	n/a	n/a
25	YY1	chr16:30381251-30381723	GM12891	blood:	n/a	chr16:30381545-30381559
26	EGR1	chr16:30381301-30382195	K562	blood:	n/a	chr16:30381623-30381637 chr16:30381732-30381742 chr16:30381731-30381744 chr16:30381772-30381781 chr16:30381934-30381944 chr16:30381929-30381942 chr16:30381730-30381745
27	POLR2A	chr16:30381274-30382174	HUVEC	blood vessel:	n/a	n/a
28	TAF1	chr16:30381298-30381823	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:30381240-30382015	HUVEC	blood vessel:	n/a	n/a
30	MXI1	chr16:30379494-30382869	IMR90	lung:	n/a	n/a
31	MAX	chr16:30381220-30382768	K562	blood:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
32	TAF1	chr16:30381262-30381907	HepG2	liver:	n/a	n/a
33	POLR2A	chr16:30381277-30381938	GM12892	blood:	n/a	n/a
34	HNF4G	chr16:30381262-30381744	HepG2	liver:	n/a	n/a
35	MAZ	chr16:30379111-30382991	IMR90	lung:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
36	ELF1	chr16:30381184-30382838	GM12878	blood:	n/a	chr16:30381973-30381984
37	SIN3AK20	chr16:30380748-30381307	K562	blood:	n/a	n/a
38	ZBTB7A	chr16:30381295-30381845	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30381303-30381353	ovcar-3	ovarian:	n/a
2	chr16:30381303-30381353	GM12878	blood:	n/a
3	chr16:30381303-30381353	H1-hESC	embryonic stem cell:	embryo
4	chr16:30381303-30381353	BJ	skin:	n/a
5	chr16:30381303-30381353	SK-N-SH	brain:	n/a
6	chr16:30381303-30381353	A549	lung:	n/a
7	chr16:30381303-30381353	HIPEpiC	eye:	n/a
8	chr16:30381303-30381353	AG09309	skin:	n/a
9	chr16:30381303-30381353	HAEpiC	amniotic membrane:	n/a
10	chr16:30381303-30381353	Jurkat	blood:	n/a
11	chr16:30381303-30381353	U87	brain:	n/a
12	chr16:30381303-30381353	LNCaP	prostate:	n/a
13	chr16:30381303-30381353	NT2-D1	testis:	n/a
14	chr16:30381303-30381353	HNPCEpiC	eye:	n/a
15	chr16:30381303-30381353	PANC-1	pancreas:	n/a
16	chr16:30381303-30381353	HEK293	kidney:	embryo
17	chr16:30381303-30381353	AoSMC	blood vessel:	n/a
18	chr16:30381303-30381353	HEEpiC	esophagus:	n/a
19	chr16:30381303-30381353	HUVEC	blood vessel:	n/a
20	chr16:30381303-30381353	Caco-2	colon:	n/a
21	chr16:30381303-30381353	HCF	heart:	n/a
22	chr16:30381303-30381353	HCPEpiC	choroid plexus:	n/a
23	chr16:30381303-30381353	SK-N-MC	brain:	n/a
24	chr16:30381303-30381353	HRE	kidney:	n/a
25	chr16:30381303-30381353	GM12892	blood:	n/a
26	chr16:30381303-30381353	PFSK-1	brain:	n/a
27	chr16:30381303-30381353	NHBE	bronchial:	n/a
28	chr16:30381303-30381353	GM19239	blood:	n/a
29	chr16:30381303-30381353	GM06990	blood:	n/a
30	chr16:30381303-30381353	SK-N-SH_RA	brain:	n/a
31	chr16:30381303-30381353	ECC-1	luminal epithelium:	n/a
32	chr16:30381303-30381353	MCF10A-Er-Src	breast:	n/a
33	chr16:30381303-30381353	HL-60	blood:	n/a
34	chr16:30381303-30381353	HRCEpiC	kidney:	n/a
35	chr16:30381303-30381353	AG04450	lung:	fetal
36	chr16:30381303-30381353	AG10803	skin:	n/a
37	chr16:30381303-30381353	Hepatocyte	liver:	n/a
38	chr16:30381303-30381353	AG09319	gingival:	n/a
39	chr16:30381303-30381353	IMR90	lung:	fetal
40	chr16:30381303-30381353	NB4	blood:	n/a
41	chr16:30381303-30381353	BE2_C	brain:	n/a
42	chr16:30381303-30381353	NHDF-neo	bronchial:	n/a
43	chr16:30381303-30381353	ProgFib	skin:	n/a
44	chr16:30381303-30381353	NH-A	brain:	n/a
45	chr16:30381303-30381353	GM12891	blood:	n/a
46	chr16:30381303-30381353	RPTEC	kidney:	n/a
47	chr16:30381303-30381353	AG04449	skin:	fetal
48	chr16:30381303-30381353	SAEC	small airway:	n/a
49	chr16:30381303-30381353	HMEC	breast:	n/a
50	chr16:30381303-30381353	HCT-116	colon:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
2	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
3	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:
4	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
5	chr16:30381117..30384208-chr16:30417593..30420362,3	MCF-7	breast:
6	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
7	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
8	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
9	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
10	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:
11	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D10B	TF binding region
MYLPF	TF binding region
MYLPF	CpG island
TBC1D10B	CpG island
ENSG00000169221	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000156858	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11642676	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11645581	0.84[EUR][1000 genomes]
rs11646130	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11862806	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11863150	0.84[EUR][1000 genomes]
rs12446288	0.84[EUR][1000 genomes]
rs12447833	0.87[EUR][1000 genomes]
rs35480350	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4787642	0.88[EUR][1000 genomes]
rs4787643	0.87[EUR][1000 genomes]
rs4788409	0.87[EUR][1000 genomes]
rs62055459	0.86[EUR][1000 genomes]
rs6565180	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6565182	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6565183	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68051857	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73532600	0.82[EUR][1000 genomes]
rs8046445	0.85[EUR][1000 genomes]
rs8049108	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
6	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	esv1794891	chr16:30376269-30382642	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1795117	chr16:30376269-30382642	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803705	chr16:30376269-30382642	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv1791873	chr16:30376959-30382642	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	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1801199	chr16:30376959-30382642	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
15	esv1815600	chr16:30380486-30381735	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	esv1794103	chr16:30380486-30382642	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
17	esv1795874	chr16:30380970-30382642	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	esv1796627	chr16:30380970-30382642	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	esv16720	chr16:30380994-30381833	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
20	esv1838493	chr16:30381050-30382642	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	esv1802604	chr16:30381072-30382642	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv1793548	chr16:30381174-30382642	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
23	esv1799757	chr16:30381174-30382642	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
24	esv1834391	chr16:30381174-30382642	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 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	chr16:30378600-30381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:30378800-30382800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:30379000-30383000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30379200-30381400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:30379200-30381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:30379400-30382800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:30379400-30382800	Active TSS	Ovary	ovary
8	chr16:30379600-30381800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr16:30379600-30382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:30379600-30382400	Active TSS	HMEC	breast
11	chr16:30379600-30382400	Active TSS	HSMM	muscle
12	chr16:30379600-30382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr16:30379600-30382600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:30379600-30382600	Active TSS	HSMMtube	muscle
15	chr16:30379600-30382800	Active TSS	Psoas Muscle	Psoas
16	chr16:30379600-30382800	Active TSS	NHLF	lung
17	chr16:30379800-30381400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr16:30379800-30381400	Active TSS	Fetal Intestine Large	intestine
19	chr16:30379800-30381400	Active TSS	Fetal Intestine Small	intestine
20	chr16:30379800-30381600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:30379800-30382600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:30379800-30382600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:30379800-30383200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr16:30380000-30381800	Active TSS	Small Intestine	intestine
25	chr16:30380000-30382400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:30380200-30381400	Active TSS	Colon Smooth Muscle	Colon
27	chr16:30380200-30381600	Active TSS	GM12878-XiMat	blood
28	chr16:30380200-30381800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:30380200-30382600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:30380200-30382600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr16:30380200-30382800	Active TSS	Aorta	Aorta
32	chr16:30380200-30382800	Active TSS	Left Ventricle	heart
33	chr16:30380400-30381400	Active TSS	A549	lung
34	chr16:30380400-30381800	Active TSS	Rectal Smooth Muscle	rectum
35	chr16:30380400-30381800	Active TSS	NH-A	brain
36	chr16:30380400-30382400	Active TSS	Thymus	Thymus
37	chr16:30380400-30382400	Active TSS	NHEK	skin
38	chr16:30380400-30382600	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr16:30380400-30382600	Active TSS	Brain Angular Gyrus	brain
40	chr16:30380400-30382600	Active TSS	Brain Cingulate Gyrus	brain
41	chr16:30380400-30382800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr16:30380400-30382800	Active TSS	Fetal Brain Female	brain
43	chr16:30380400-30383000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr16:30380600-30381400	Active TSS	Brain Hippocampus Middle	brain
45	chr16:30380600-30381400	Active TSS	Brain Substantia Nigra	brain
46	chr16:30380600-30381600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:30380600-30381600	Active TSS	Spleen	Spleen
48	chr16:30380600-30381800	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr16:30380600-30382600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr16:30380600-30382600	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links