Variant report

Variant	rs62415880
Chromosome Location	chr6:56965021-56965022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:56963098-56971077	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56963370..56965802-chr6:56977570..56979666,2	K562	blood:
2	chr6:56911352..56913396-chr6:56964488..56966210,2	K562	blood:
3	chr6:56918758..56920870-chr6:56963743..56966191,2	K562	blood:
4	chr6:56956552..56959320-chr6:56963385..56965613,2	MCF-7	breast:
5	chr6:56963536..56966458-chr6:57038304..57040042,2	K562	blood:
6	chr6:56954866..56956566-chr6:56964924..56967496,2	MCF-7	breast:
7	chr6:56818562..56821573-chr6:56964600..56969072,4	K562	blood:

No data

Variant related genes	Relation type
ZNF451	TF binding region
ENSG00000168116	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112200	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1002996	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040461	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12175661	0.90[AMR][1000 genomes]
rs1556245	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993118	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273919	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757296	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4510664	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576249	0.82[AMR][1000 genomes]
rs58332182	0.80[AMR][1000 genomes]
rs58705880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61740375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62415861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62415862	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62415863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62415864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62415865	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415883	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415933	0.83[AMR][1000 genomes]
rs62417430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6459179	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907653	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932278	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867054	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72867059	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867062	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749960	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7766234	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771328	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296860	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296861	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349844	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9349845	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357936	0.86[AMR][1000 genomes]
rs9357939	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357941	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9367706	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9367707	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367713	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367714	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9370559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9370561	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370562	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370567	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370568	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382685	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382686	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382691	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396254	0.86[AMR][1000 genomes]
rs9396255	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9396258	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396260	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396261	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396263	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9464416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464419	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475768	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9475774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9475778	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9475781	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475782	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475783	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475788	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56954000-56966800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:56955200-56965400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:56955200-56965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:56955200-56965800	Weak transcription	Esophagus	oesophagus
5	chr6:56956600-56965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:56956600-56965600	Weak transcription	Gastric	stomach
7	chr6:56957000-56965200	Weak transcription	Small Intestine	intestine
8	chr6:56957000-56965400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:56957000-56965800	Weak transcription	Stomach Mucosa	stomach
10	chr6:56957600-56967600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:56957800-56965400	Weak transcription	Right Ventricle	heart
12	chr6:56958200-56979600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:56958400-56965400	Weak transcription	Ovary	ovary
14	chr6:56958600-56965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:56958800-56974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:56959200-56968200	Strong transcription	Fetal Intestine Large	intestine
17	chr6:56959200-56975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:56959600-56968600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr6:56959600-56969400	Strong transcription	Fetal Thymus	thymus
20	chr6:56959800-56969600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:56960200-56969600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr6:56961000-56965600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:56961200-56965400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:56961600-56969200	Strong transcription	Fetal Muscle Leg	muscle
25	chr6:56961600-56971000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:56961800-56965600	Strong transcription	Primary T cells from cord blood	blood
27	chr6:56961800-56968200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:56961800-56969000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:56961800-56969000	Strong transcription	GM12878-XiMat	blood
30	chr6:56961800-56969200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr6:56961800-56969600	Strong transcription	HUVEC	blood vessel
32	chr6:56961800-56970200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:56961800-56971000	Strong transcription	Placenta	Placenta
34	chr6:56961800-56972200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:56961800-56972200	Strong transcription	Dnd41	blood
36	chr6:56961800-56973400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:56961800-56975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:56962000-56967800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:56962000-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:56962000-56968400	Strong transcription	Hela-S3	cervix
41	chr6:56962000-56968600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:56962000-56968600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:56962000-56969400	Strong transcription	Primary B cells from cord blood	blood
44	chr6:56962000-56969600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr6:56962000-56969800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr6:56962000-56969800	Strong transcription	Fetal Brain Female	brain
47	chr6:56962000-56970400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:56962000-56971000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:56962200-56968400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:56962200-56971000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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