Variant report

Variant	rs11573607
Chromosome Location	chr9:110045257-110045258
allele	C/T
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	RAD21	chr9:110044837-110046592	IMR90	lung:	n/a	chr9:110045865-110045879 chr9:110046028-110046042
2	MAX	chr9:110044929-110046766	MCF-7	breast:	n/a	chr9:110045533-110045542
3	MAX	chr9:110045096-110046455	K562	blood:	n/a	chr9:110045533-110045542
4	MYC	chr9:110045227-110045770	MCF-7	breast:	n/a	chr9:110045533-110045542
5	RAD21	chr9:110045034-110045312	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr9:110045023-110045667	SK-N-SH	brain:	n/a	n/a
7	REST	chr9:110044598-110046652	H1-neurons	neurons:	n/a	chr9:110045722-110045735 chr9:110045867-110045877 chr9:110046104-110046117 chr9:110045853-110045866 chr9:110045127-110045137
8	SP1	chr9:110044979-110045737	H1-hESC	embryonic stem cell:	n/a	chr9:110045534-110045548 chr9:110045425-110045434 chr9:110045425-110045435 chr9:110045425-110045435 chr9:110045426-110045435 chr9:110045537-110045549 chr9:110045425-110045439 chr9:110045537-110045549 chr9:110045425-110045434 chr9:110045538-110045547 chr9:110045424-110045436 chr9:110045424-110045436
9	IRF1	chr9:110045023-110045916	K562	blood:	n/a	chr9:110045289-110045303 chr9:110045422-110045436
10	BHLHE40	chr9:110044951-110046487	K562	blood:	n/a	chr9:110045121-110045137 chr9:110045877-110045893 chr9:110045295-110045311 chr9:110045867-110045883
11	POLR2A	chr9:110044925-110046470	K562	blood:	n/a	n/a
12	SMARCB1	chr9:110044805-110046554	Hela-S3	cervix:	n/a	n/a
13	YY1	chr9:110044953-110045879	A549	lung:	n/a	chr9:110045426-110045435 chr9:110045556-110045578 chr9:110045568-110045578
14	EP300	chr9:110044751-110045773	GM12878	blood:	n/a	chr9:110045458-110045467
15	YY1	chr9:110045010-110046330	K562	blood:	n/a	chr9:110045869-110045883 chr9:110045426-110045435 chr9:110046107-110046121 chr9:110045556-110045578 chr9:110045568-110045578
16	MAFK	chr9:110045094-110045768	IMR90	lung:	n/a	n/a
17	RELA	chr9:110044841-110047095	GM18505	blood:	n/a	n/a
18	POLR2A	chr9:110044942-110046689	K562	blood:	n/a	n/a
19	BHLHE40	chr9:110045132-110046686	GM12878	blood:	n/a	chr9:110045877-110045893 chr9:110045295-110045311 chr9:110045867-110045883
20	EP300	chr9:110044883-110045978	ECC-1	luminal epithelium:	n/a	chr9:110045860-110045876 chr9:110045458-110045467
21	RAD21	chr9:110045102-110045383	Hela-S3	cervix:	n/a	n/a
22	MYC	chr9:110045256-110045283	MCF-7	breast:	n/a	n/a
23	FOSL2	chr9:110045039-110045860	A549	lung:	n/a	n/a
24	RAD21	chr9:110044995-110045413	SK-N-SH_RA	brain:	n/a	n/a
25	MYC	chr9:110044990-110046534	K562	blood:	n/a	chr9:110045533-110045542
26	RCOR1	chr9:110044792-110045859	K562	blood:	n/a	n/a
27	YY1	chr9:110045047-110045970	HepG2	liver:	n/a	chr9:110045869-110045883 chr9:110045426-110045435 chr9:110045556-110045578 chr9:110045568-110045578
28	MAZ	chr9:110044770-110046595	GM12878	blood:	n/a	chr9:110045533-110045542
29	ELF1	chr9:110045117-110045539	HepG2	liver:	n/a	n/a
30	EP300	chr9:110044751-110045714	K562	blood:	n/a	chr9:110045458-110045467
31	POU2F2	chr9:110044961-110045323	GM12891	blood:	n/a	n/a
32	SPI1	chr9:110045040-110045657	HL-60	blood:	n/a	n/a
33	POLR2A	chr9:110044896-110046471	GM12892	blood:	n/a	n/a
34	POLR2A	chr9:110044983-110046483	K562	blood:	n/a	n/a
35	POLR2A	chr9:110044989-110046613	MCF-7	breast:	n/a	n/a
36	TBP	chr9:110044960-110046606	HepG2	liver:	n/a	n/a
37	EBF1	chr9:110045230-110045470	GM12878	blood:	n/a	chr9:110045346-110045357
38	MYBL2	chr9:110044816-110045871	HepG2	liver:	n/a	n/a
39	CEBPD	chr9:110044966-110045871	K562	blood:	n/a	chr9:110045255-110045264 chr9:110045254-110045265 chr9:110045254-110045265
40	CEBPB	chr9:110044756-110045701	K562	blood:	n/a	chr9:110045255-110045264 chr9:110045253-110045266 chr9:110045255-110045264 chr9:110045253-110045264 chr9:110045255-110045264
41	TBP	chr9:110044699-110046562	K562	blood:	n/a	n/a
42	POLR2A	chr9:110044685-110046710	K562	blood:	n/a	n/a
43	EP300	chr9:110045064-110045650	SK-N-SH_RA	brain:	n/a	chr9:110045458-110045467
44	POLR2A	chr9:110044978-110046393	A549	lung:	n/a	n/a
45	TAF1	chr9:110045045-110045293	GM12892	blood:	n/a	n/a
46	TAF1	chr9:110045004-110045320	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr9:110044963-110046504	H1-neurons	neurons:	n/a	n/a
48	STAT3	chr9:110045018-110045470	MCF10A-Er-Src	breast:	n/a	n/a
49	TEAD4	chr9:110045074-110045723	A549	lung:	n/a	n/a
50	POLR2A	chr9:110044919-110046400	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:
2	chr9:110044573..110046524-chrX:150150957..150152759,2	MCF-7	breast:
3	chr9:110045113..110046713-chr9:110046851..110048527,3	MCF-7	breast:
4	chr9:110044689..110046322-chr9:110067933..110070602,2	MCF-7	breast:

Variant related genes	Relation type
RAD23B	TF binding region
ENSG00000029993	Chromatin interaction
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10868	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573662	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573665	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573703	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573709	1.00[ASN][1000 genomes]
rs11573711	0.84[EUR][1000 genomes]
rs11573721	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379885	1.00[ASN][1000 genomes]
rs12379895	1.00[ASN][1000 genomes]
rs13287251	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13298939	0.81[EUR][1000 genomes]
rs1805331	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593991	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34745099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218924	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35626978	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35827173	1.00[ASN][1000 genomes]
rs35865856	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35967129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36016101	1.00[ASN][1000 genomes]
rs36089467	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161943	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377721	0.81[EUR][1000 genomes]
rs66495692	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66539130	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67630898	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71495992	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716004	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr9:110044200-110047600	Active TSS	Thymus	Thymus
2	chr9:110044200-110048200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr9:110044400-110047400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr9:110044400-110047600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:110044400-110047800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:110044400-110048000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:110044400-110048200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:110044400-110048200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:110044400-110048400	Active TSS	Fetal Kidney	kidney
10	chr9:110044400-110048800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:110044600-110045400	Active TSS	Right Atrium	heart
12	chr9:110044600-110047200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:110044600-110047800	Bivalent/Poised TSS	HepG2	liver
14	chr9:110044600-110048000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:110044600-110048200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:110044600-110048200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:110044600-110048200	Active TSS	A549	lung
18	chr9:110044600-110048400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:110044600-110048400	Active TSS	GM12878-XiMat	blood
20	chr9:110044600-110049000	Active TSS	Right Ventricle	heart
21	chr9:110044800-110046600	Active TSS	Brain Substantia Nigra	brain
22	chr9:110044800-110046600	Active TSS	Rectal Smooth Muscle	rectum
23	chr9:110044800-110046800	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr9:110044800-110046800	Active TSS	Esophagus	oesophagus
25	chr9:110044800-110046800	Active TSS	Gastric	stomach
26	chr9:110044800-110046800	Active TSS	Pancreas	Pancrea
27	chr9:110044800-110047000	Active TSS	Brain Anterior Caudate	brain
28	chr9:110044800-110047000	Active TSS	Small Intestine	intestine
29	chr9:110044800-110047200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:110044800-110047200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:110044800-110047200	Active TSS	Lung	lung
32	chr9:110044800-110047200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr9:110044800-110047600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:110044800-110047600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:110044800-110047600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:110044800-110047600	Active TSS	Fetal Intestine Small	intestine
37	chr9:110044800-110047600	Active TSS	Stomach Mucosa	stomach
38	chr9:110044800-110047800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:110044800-110048000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:110044800-110048000	Active TSS	Aorta	Aorta
41	chr9:110044800-110048200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:110044800-110048200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:110044800-110048200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr9:110044800-110048200	Active TSS	Fetal Brain Female	brain
45	chr9:110044800-110048200	Active TSS	Fetal Lung	lung
46	chr9:110044800-110048400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:110044800-110048400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr9:110044800-110048400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr9:110044800-110048400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:110044800-110048400	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links