Variant report

Variant	rs61086377
Chromosome Location	chr16:31212606-31212607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31205085-31214379	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr16:31211692-31214245	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:31212177-31214556	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr16:31212502-31212664	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:31211871-31213528	Hela-S3	cervix:	n/a	n/a
6	BCL3	chr16:31212205-31214042	A549	lung:	n/a	chr16:31214023-31214036 chr16:31214024-31214037
7	BHLHE40	chr16:31212227-31212677	K562	blood:	n/a	n/a
8	POLR2A	chr16:31212597-31212797	A549	lung:	n/a	n/a
9	POLR2A	chr16:31212439-31214381	H1-neurons	neurons:	n/a	n/a
10	POU2F2	chr16:31212130-31213999	GM12891	blood:	n/a	chr16:31213685-31213697
11	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
12	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
13	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
14	POLR2A	chr16:31211844-31213545	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
16	ZNF263	chr16:31212255-31213640	K562	blood:	n/a	n/a
17	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
18	MTA3	chr16:31212028-31214909	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:31212135-31214453	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:31212082-31214408	HL-60	blood:	n/a	n/a
21	POLR2A	chr16:31212317-31214506	GM18951	blood:	n/a	n/a
22	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
23	POLR2A	chr16:31212192-31214212	K562	blood:	n/a	n/a
24	POLR2A	chr16:31211985-31214626	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr16:31212500-31212650	BE2_C	brain:	n/a	n/a
26	NFATC1	chr16:31211962-31214072	GM12878	blood:	n/a	chr16:31212456-31212470
27	POLR2A	chr16:31211978-31214601	HUVEC	blood vessel:	n/a	n/a
28	HNF4A	chr16:31212400-31212666	HepG2	liver:	n/a	chr16:31212565-31212579
29	POLR2A	chr16:31212122-31212843	HepG2	liver:	n/a	n/a
30	BCL3	chr16:31212116-31213827	A549	lung:	n/a	n/a
31	POLR2A	chr16:31212188-31212996	U87	brain:	n/a	n/a
32	POLR2A	chr16:31212235-31214017	HCT-116	colon:	n/a	n/a
33	POLR2A	chr16:31212147-31214646	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:31212585-31213938	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:31212394-31214136	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr16:31212101-31213911	GM12891	blood:	n/a	n/a
37	ARID3A	chr16:31212272-31212647	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
39	POLR2A	chr16:31212494-31213783	SK-N-MC	brain:	n/a	n/a
40	SMC3	chr16:31212176-31212624	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
42	HNF4G	chr16:31212151-31212743	HepG2	liver:	n/a	chr16:31212288-31212300 chr16:31212271-31212284 chr16:31212281-31212295 chr16:31212285-31212297 chr16:31212565-31212579
43	POLR2A	chr16:31212440-31214405	GM12878	blood:	n/a	n/a
44	TBL1XR1	chr16:31212512-31212786	K562	blood:	n/a	n/a
45	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
46	POLR2A	chr16:31212114-31214243	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr16:31212228-31214534	GM19193	blood:	n/a	n/a
48	POLR2A	chr16:31212498-31214035	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr16:31212473-31212675	U87	brain:	n/a	n/a
50	POLR2A	chr16:31212237-31212653	HCT-116	colon:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31210690..31213656-chr16:31469495..31472213,2	MCF-7	breast:
2	chr16:31212420..31213239-chr16:31708379..31708970,2	K562	blood:
3	chr16:31212227..31213115-chr16:31344705..31345602,3	MCF-7	breast:
4	chr16:31211282..31213179-chr16:31343243..31345626,2	K562	blood:
5	chr16:31210451..31214037-chr16:31224426..31227776,4	MCF-7	breast:
6	chr16:31205852..31207685-chr16:31211548..31213108,2	MCF-7	breast:
7	chr16:31211041..31212980-chr16:31217003..31219469,2	MCF-7	breast:
8	chr16:31210307..31213024-chr16:31213312..31215668,2	MCF-7	breast:

No data

Variant related genes	Relation type
C16orf98	TF binding region
ENSG00000260060	Chromatin interaction
ENSG00000260472	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000103490	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000169900	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839571	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58865641	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.83[AMR][1000 genomes]
rs61733962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	0.83[AMR][1000 genomes]
rs73530263	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	1.00[EUR][1000 genomes]
rs73532246	1.00[EUR][1000 genomes]
rs73532249	1.00[EUR][1000 genomes]
rs73532254	1.00[EUR][1000 genomes]
rs74015090	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
2	chr16:31200800-31213200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:31202600-31213000	Weak transcription	Psoas Muscle	Psoas
4	chr16:31205800-31214800	Weak transcription	Hela-S3	cervix
5	chr16:31206400-31213200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:31207800-31212800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:31208000-31212800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:31208000-31212800	Weak transcription	Ovary	ovary
9	chr16:31208000-31212800	Weak transcription	HUVEC	blood vessel
10	chr16:31208000-31213000	Weak transcription	Left Ventricle	heart
11	chr16:31208200-31213000	Weak transcription	HSMMtube	muscle
12	chr16:31209400-31213000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:31209600-31212800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:31210200-31213400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:31210600-31212800	Genic enhancers	A549	lung
16	chr16:31210600-31212800	Weak transcription	NH-A	brain
17	chr16:31210800-31212800	Enhancers	HepG2	liver
18	chr16:31211000-31212800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:31211000-31212800	Weak transcription	Brain Substantia Nigra	brain
20	chr16:31211000-31213000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:31211000-31213200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:31211200-31213400	Weak transcription	Aorta	Aorta
23	chr16:31211200-31213600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:31211400-31212800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:31211400-31212800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:31211400-31212800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr16:31211400-31212800	Enhancers	Fetal Intestine Large	intestine
28	chr16:31211400-31213000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:31211600-31212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:31211600-31212800	Enhancers	Placenta	Placenta
31	chr16:31211600-31213000	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:31211600-31213400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:31211800-31213000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
34	chr16:31212000-31212800	Enhancers	Liver	Liver
35	chr16:31212000-31213200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr16:31212000-31213600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr16:31212000-31213600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr16:31212200-31212800	Enhancers	Esophagus	oesophagus
39	chr16:31212200-31212800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr16:31212200-31212800	Enhancers	Thymus	Thymus
41	chr16:31212200-31212800	Enhancers	NHDF-Ad	bronchial
42	chr16:31212200-31212800	Enhancers	NHLF	lung
43	chr16:31212200-31213000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:31212200-31213000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr16:31212200-31213000	Enhancers	Small Intestine	intestine
46	chr16:31212200-31213200	Enhancers	Fetal Muscle Trunk	muscle
47	chr16:31212200-31213400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr16:31212200-31213400	Flanking Active TSS	NHEK	skin
49	chr16:31212200-31213600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr16:31212200-31213600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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