Variant report

Variant	rs61266247
Chromosome Location	chr16:70410415-70410416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70407276-70410478	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:70409842-70410724	A549	lung:	n/a	n/a
3	POLR2A	chr16:70409789-70410419	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70409714-70410482	GM18505	blood:	n/a	n/a
5	PML	chr16:70409800-70410896	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:70409715-70410469	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:70406296-70410723	U87	brain:	n/a	n/a
8	BCL3	chr16:70410143-70410848	GM12878	blood:	n/a	chr16:70410467-70410475
9	POLR2A	chr16:70409701-70410866	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:70408139-70410520	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:70405324-70410769	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:70408866-70410894	GM12892	blood:	n/a	n/a
13	POLR2A	chr16:70409931-70410935	K562	blood:	n/a	n/a
14	TEAD4	chr16:70409723-70410505	K562	blood:	n/a	n/a
15	POLR2A	chr16:70409625-70410520	GM12892	blood:	n/a	n/a
16	POLR2A	chr16:70409746-70410797	GM12891	blood:	n/a	n/a
17	FOSL2	chr16:70409784-70410548	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:70409765-70410677	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr16:70409784-70410841	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr16:70405928-70416221	K562	blood:	n/a	n/a
21	PML	chr16:70409815-70410538	K562	blood:	n/a	n/a
22	POLR2A	chr16:70407299-70416500	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:70408258-70410731	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:70409780-70410534	HL-60	blood:	n/a	n/a
25	POLR2A	chr16:70409719-70410642	K562	blood:	n/a	n/a
26	POLR2A	chr16:70409787-70410661	HepG2	liver:	n/a	n/a
27	BCL3	chr16:70409729-70410588	A549	lung:	n/a	chr16:70410467-70410475
28	MTA3	chr16:70409679-70410598	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:70410156-70410426	GM12891	blood:	n/a	n/a
30	POLR2A	chr16:70408124-70410831	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr16:70409949-70410539	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr16:70409785-70410973	K562	blood:	n/a	n/a
33	POLR2A	chr16:70409849-70410787	GM19193	blood:	n/a	n/a
34	POLR2A	chr16:70408925-70410606	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr16:70409806-70410625	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:70409918-70410451	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr16:70404846-70410894	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:70407070-70411182	GM12891	blood:	n/a	n/a
39	POLR2A	chr16:70409841-70410512	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr16:70409775-70410462	U87	brain:	n/a	n/a
41	POLR2A	chr16:70408083-70410792	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:70409601-70410789	GM12891	blood:	n/a	n/a
43	POLR2A	chr16:70409720-70410857	K562	blood:	n/a	n/a
44	BCL3	chr16:70408707-70410630	K562	blood:	n/a	chr16:70410467-70410475
45	POLR2A	chr16:70409533-70410583	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr16:70408251-70410970	K562	blood:	n/a	n/a
47	POLR2A	chr16:70410175-70410452	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:70409654-70410866	HepG2	liver:	n/a	n/a
49	POLR2A	chr16:70410020-70410712	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr16:70409578-70410797	PFSK-1	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70397691..70399397-chr16:70409002..70410941,2	K562	blood:
2	chr16:70408425..70412469-chr16:70501223..70503201,4	MCF-7	breast:
3	chr16:70408756..70411643-chr16:70690769..70692311,2	MCF-7	breast:
4	chr16:70386987..70389423-chr16:70409457..70411415,2	MCF-7	breast:
5	chr16:70402213..70407234-chr16:70407266..70410953,6	K562	blood:
6	chr16:70382796..70385300-chr16:70408811..70411389,2	K562	blood:
7	chr16:70409061..70411371-chr16:70561272..70563423,2	MCF-7	breast:
8	chr16:70409036..70411924-chr16:70413991..70417469,3	K562	blood:
9	chr16:70409390..70411008-chr16:70493324..70495460,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260111	TF binding region
ENSG00000168872	Chromatin interaction
ENSG00000221514	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11860870	0.83[AFR][1000 genomes]
rs11863943	0.83[AMR][1000 genomes]
rs11864179	0.83[AMR][1000 genomes]
rs11864326	0.83[AFR][1000 genomes]
rs11865484	0.83[AMR][1000 genomes]
rs11865564	0.82[AFR][1000 genomes]
rs16970141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970149	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970151	0.83[AMR][1000 genomes]
rs16970152	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970153	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970165	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970169	0.81[AFR][1000 genomes]
rs16970609	0.82[AFR][1000 genomes]
rs17879665	0.83[AMR][1000 genomes]
rs17880268	0.80[AFR][1000 genomes]
rs17881219	0.83[AMR][1000 genomes]
rs17886064	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55769835	0.83[AMR][1000 genomes]
rs55775924	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55916527	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56043981	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56082018	0.83[AMR][1000 genomes]
rs56096542	0.90[AMR][1000 genomes]
rs56217164	0.82[AFR][1000 genomes]
rs56234537	0.82[AFR][1000 genomes]
rs56348821	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57150196	0.91[AMR][1000 genomes]
rs57279408	0.82[AFR][1000 genomes]
rs57422630	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57623576	0.82[AFR][1000 genomes]
rs58055772	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59260159	0.91[AMR][1000 genomes]
rs59552467	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59791510	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59928915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011151	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60387488	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60523557	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60646112	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61284127	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61319691	0.82[AFR][1000 genomes]
rs61369696	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61391917	0.82[AFR][1000 genomes]
rs7184248	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190536	0.83[AMR][1000 genomes]
rs7195086	0.83[AMR][1000 genomes]
rs7195104	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7195567	0.82[AFR][1000 genomes]
rs7199346	0.80[AFR][1000 genomes]
rs7203772	0.80[AMR][1000 genomes]
rs7204800	0.80[AFR][1000 genomes]
rs7205871	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7205990	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7206347	0.82[AFR][1000 genomes]
rs74024193	0.81[AFR][1000 genomes]
rs74024196	0.82[AFR][1000 genomes]
rs74024199	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024200	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74026022	0.91[AMR][1000 genomes]
rs74026026	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026049	0.83[AMR][1000 genomes]
rs8046253	0.91[AMR][1000 genomes]
rs8046280	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8049046	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8050252	0.91[AMR][1000 genomes]
rs8051869	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053040	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056811	0.91[AMR][1000 genomes]
rs8058735	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8062602	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70382600-70413000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70382800-70410800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:70382800-70410800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:70383000-70410600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:70383000-70410800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:70383000-70413000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:70383000-70413000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:70383000-70413000	Strong transcription	Fetal Thymus	thymus
12	chr16:70383200-70412200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:70383200-70413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:70383200-70413400	Strong transcription	Fetal Stomach	stomach
15	chr16:70383400-70410600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:70383400-70411000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:70383400-70411000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:70383600-70412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:70383600-70413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:70383600-70413400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:70383600-70413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:70383800-70410600	Strong transcription	Liver	Liver
23	chr16:70384400-70411000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:70384400-70411400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:70384600-70413400	Strong transcription	Fetal Intestine Small	intestine
26	chr16:70385200-70410800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr16:70385200-70410800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr16:70386000-70413400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:70387800-70414000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr16:70388400-70410600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:70388400-70410600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:70388400-70410600	Strong transcription	Fetal Intestine Large	intestine
33	chr16:70388400-70410600	Strong transcription	Placenta	Placenta
34	chr16:70388400-70410600	Strong transcription	Thymus	Thymus
35	chr16:70388400-70411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:70388600-70410600	Strong transcription	Lung	lung
37	chr16:70388600-70411400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr16:70388800-70410600	Strong transcription	Spleen	Spleen
39	chr16:70391400-70410600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:70393800-70413000	Weak transcription	Fetal Heart	heart
41	chr16:70397200-70413000	Strong transcription	Dnd41	blood
42	chr16:70397600-70413000	Strong transcription	Osteobl	bone
43	chr16:70397800-70410600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:70398000-70412200	Strong transcription	A549	lung
45	chr16:70398800-70414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr16:70399000-70414200	Weak transcription	Psoas Muscle	Psoas
47	chr16:70399200-70413200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:70399400-70413000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:70400600-70413000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:70400600-70413800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links