Variant report

Variant	rs566576313
Chromosome Location	chr16:81069406-81069407
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	SRF	chr16:81069205-81069456	HepG2	liver:	n/a	n/a
2	GABPA	chr16:81069080-81069628	A549	lung:	n/a	n/a
3	CTCF	chr16:81069280-81069430	RPTEC	kidney:	n/a	chr16:81069291-81069307
4	CTCF	chr16:81069184-81069491	GM10248	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
5	CTCF	chr16:81069133-81069468	SK-N-SH_RA	brain:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
6	MYC	chr16:81069192-81069430	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT1	chr16:81069178-81069469	GM12878	blood:	n/a	n/a
8	CTCF	chr16:81069260-81069410	GM12864	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
9	ELF1	chr16:81069166-81069615	K562	blood:	n/a	chr16:81069410-81069423
10	UBTF	chr16:81069175-81070204	K562	blood:	n/a	n/a
11	HDAC2	chr16:81069152-81069466	K562	blood:	n/a	chr16:81069189-81069203
12	CTCF	chr16:81069280-81069430	GM12870	blood:	n/a	chr16:81069291-81069307
13	IRF1	chr16:81069174-81069494	K562	blood:	n/a	n/a
14	GABPA	chr16:81069280-81069510	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr16:81069083-81069600	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr16:81069024-81069520	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr16:81068931-81069519	HCT-116	colon:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
18	TBL1XR1	chr16:81069212-81069482	GM12878	blood:	n/a	n/a
19	RAD21	chr16:81069096-81069481	GM12878	blood:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
20	YY1	chr16:81069224-81069522	HCT-116	colon:	n/a	n/a
21	POLR2A	chr16:81069163-81070096	GM12892	blood:	n/a	n/a
22	CTCF	chr16:81069041-81069564	IMR90	lung:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
23	YY1	chr16:81069225-81069660	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr16:81069261-81069694	K562	blood:	n/a	n/a
25	RAD21	chr16:81069122-81069482	A549	lung:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
26	USF1	chr16:81069244-81069453	SK-N-SH_RA	brain:	n/a	n/a
27	TAF1	chr16:81069257-81069596	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr16:81069176-81069485	GM13977	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
29	EP300	chr16:81069105-81069493	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr16:81069103-81069553	A549	lung:	n/a	n/a
31	ELF1	chr16:81069215-81070167	GM12878	blood:	n/a	chr16:81069410-81069423 chr16:81069934-81069946 chr16:81069955-81069964 chr16:81069864-81069876
32	EP300	chr16:81069167-81069480	K562	blood:	n/a	n/a
33	ZBTB33	chr16:81069213-81069493	HCT-116	colon:	n/a	n/a
34	MAX	chr16:81069231-81070223	K562	blood:	n/a	n/a
35	CUX1	chr16:81069004-81069419	K562	blood:	n/a	chr16:81069240-81069249
36	ELF1	chr16:81069074-81069666	GM12878	blood:	n/a	chr16:81069410-81069423
37	SMC3	chr16:81069094-81069493	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:81069337-81069547	HepG2	liver:	n/a	n/a
39	MYBL2	chr16:81068987-81069539	HepG2	liver:	n/a	n/a
40	ZEB1	chr16:81068794-81069558	HepG2	liver:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
41	ELF1	chr16:81069207-81069544	SK-N-SH	brain:	n/a	chr16:81069410-81069423
42	POLR2A	chr16:81069354-81069517	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF3	chr16:81069206-81069438	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr16:81069075-81069514	HepG2	liver:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
45	CTCF	chr16:81069165-81069497	GM12892	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
46	GABPA	chr16:81069235-81069943	HepG2	liver:	n/a	chr16:81069866-81069880 chr16:81069869-81069883
47	ZNF143	chr16:81069067-81069528	K562	blood:	n/a	n/a
48	TAF7	chr16:81069128-81069546	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCLAF1	chr16:81069039-81069544	GM12878	blood:	n/a	n/a
50	EBF1	chr16:81069240-81069411	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
2	chr16:81068964..81069731-chr16:81231614..81232947,4	MCF-7	breast:
3	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
4	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
5	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
6	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
7	chr16:81068894..81069816-chr16:81231960..81232923,14	MCF-7	breast:
8	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
9	chr16:81039925..81040655-chr16:81068862..81069785,3	MCF-7	breast:
10	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:
11	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
12	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
13	chr16:81056423..81058180-chr16:81069392..81072113,2	MCF-7	breast:
14	chr16:81052685..81055352-chr16:81069386..81070952,2	MCF-7	breast:
15	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
16	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
17	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
18	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
19	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:
20	chr16:81068976..81069841-chr16:81110418..81110934,2	MCF-7	breast:
21	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
22	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
23	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
24	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
25	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
26	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
27	chr16:81055761..81058462-chr16:81067542..81069697,2	K562	blood:
28	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
29	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
30	chr16:81069322..81070029-chr5:112256640..112257405,2	Hela-S3	cervix:
31	chr16:81069337..81069924-chr17:39845078..39845594,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000260213	TF binding region
ATMIN	TF binding region
ENSG00000197943	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000261218	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv3374530	chr16:81068676-81071224	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	esv13684	chr16:81069171-81070144	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv573339	chr16:81069196-81070059	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv573340	chr16:81069196-81070110	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv573341	chr16:81069247-81069895	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv573342	chr16:81069247-81070059	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	esv1820959	chr16:81069247-81070697	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv573343	chr16:81069298-81070059	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv573344	chr16:81069317-81070110	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
4	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
6	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:81062600-81069600	Weak transcription	Primary T cells from cord blood	blood
9	chr16:81062600-81069600	Weak transcription	NH-A	brain
10	chr16:81062800-81069600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr16:81062800-81069600	Weak transcription	NHDF-Ad	bronchial
12	chr16:81063800-81069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:81064000-81069600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr16:81064000-81069600	Weak transcription	Fetal Thymus	thymus
15	chr16:81068600-81069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:81068800-81069600	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:81068800-81070400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:81068800-81070400	Active TSS	Brain Hippocampus Middle	brain
19	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:81069000-81069600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr16:81069000-81069600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:81069000-81069600	Enhancers	Liver	Liver
23	chr16:81069000-81069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:81069000-81069600	Enhancers	HUVEC	blood vessel
25	chr16:81069000-81070200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:81069000-81070200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:81069000-81070200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:81069000-81070200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:81069000-81070200	Active TSS	Fetal Lung	lung
30	chr16:81069000-81070200	Active TSS	Rectal Smooth Muscle	rectum
31	chr16:81069000-81070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:81069000-81070400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr16:81069000-81070400	Active TSS	Brain Germinal Matrix	brain
34	chr16:81069000-81070400	Active TSS	Fetal Kidney	kidney
35	chr16:81069000-81070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr16:81069000-81070600	Active TSS	Fetal Muscle Trunk	muscle
37	chr16:81069000-81070800	Active TSS	Psoas Muscle	Psoas
38	chr16:81069200-81069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:81069200-81069600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:81069200-81069600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:81069200-81069600	Weak transcription	Placenta	Placenta
42	chr16:81069200-81070000	Active TSS	Primary B cells from cord blood	blood
43	chr16:81069200-81070000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:81069200-81070000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr16:81069200-81070000	Active TSS	Adipose Nuclei	Adipose
46	chr16:81069200-81070000	Weak transcription	Fetal Heart	heart
47	chr16:81069200-81070000	Active TSS	HepG2	liver
48	chr16:81069200-81070200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:81069200-81070200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:81069200-81070200	Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links