Variant report

Variant	rs2293090
Chromosome Location	chr8:9913182-9913183
allele	A/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	RCOR1	chr8:9911619-9913206	K562	blood:	n/a	n/a
2	ZEB1	chr8:9912857-9913261	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:9910959-9913289	GM12878	blood:	n/a	n/a
4	MAZ	chr8:9911580-9913277	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:9911924-9913214	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:9911137-9913188	MCF10A-Er-Src	breast:	n/a	n/a
7	CHD1	chr8:9912392-9913260	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:9910902-9913264	GM12891	blood:	n/a	n/a
9	GATA3	chr8:9913149-9913386	SH-SY5Y	brain:	n/a	chr8:9913239-9913249
10	TBP	chr8:9912052-9913222	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:9911913-9913237	SK-N-MC	brain:	n/a	n/a
12	MXI1	chr8:9913043-9913242	HepG2	liver:	n/a	n/a
13	MAX	chr8:9911236-9913231	A549	lung:	n/a	n/a
14	POLR2A	chr8:9912864-9913191	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr8:9911429-9913196	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:9911258-9913218	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:9911910-9913288	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr8:9911927-9913213	HCT-116	colon:	n/a	n/a
19	MAX	chr8:9912562-9913192	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr8:9911311-9913300	HCT-116	colon:	n/a	n/a
21	YY1	chr8:9912867-9913247	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:9911505-9913191	GM18505	blood:	n/a	n/a
23	PML	chr8:9911248-9913288	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:9911502-9913212	GM12892	blood:	n/a	n/a
25	MAX	chr8:9911937-9913241	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:9911893-9913311	H1-hESC	embryonic stem cell:	n/a	n/a
27	HCFC1	chr8:9911088-9913248	Hela-S3	cervix:	n/a	n/a
28	SIN3A	chr8:9911528-9913188	H1-hESC	embryonic stem cell:	n/a	chr8:9912516-9912529 chr8:9912229-9912240
29	POLR2A	chr8:9911615-9913232	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr8:9910994-9913437	SK-N-SH	brain:	n/a	chr8:9911023-9911038
31	POLR2A	chr8:9911124-9913275	GM12878	blood:	n/a	n/a
32	REST	chr8:9911677-9913329	H1-neurons	neurons:	n/a	chr8:9912516-9912529
33	MAX	chr8:9911136-9913217	NB4	blood:	n/a	n/a
34	POLR2A	chr8:9911456-9913189	HUVEC	blood vessel:	n/a	n/a
35	RUNX3	chr8:9912857-9913249	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:9911520-9913222	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:9913165-9913209	HepG2	liver:	n/a	n/a
38	MTA3	chr8:9911874-9913236	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9912450..9914254-chr8:9914390..9916277,2	MCF-7	breast:
2	chr8:9912174..9913822-chr8:9921464..9923860,2	K562	blood:

Variant related genes	Relation type
MSRA	TF binding region
ENSG00000260093	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10081447	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101206	1.00[ASN][1000 genomes]
rs10109617	0.89[ASN][1000 genomes]
rs11985767	0.87[ASN][1000 genomes]
rs28560439	1.00[ASN][1000 genomes]
rs6995352	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9911000-9913200	Active TSS	HSMMtube	muscle
2	chr8:9911200-9913200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:9911200-9913200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:9911200-9913200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:9911200-9913200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:9911200-9913200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:9911200-9913200	Active TSS	Aorta	Aorta
8	chr8:9911200-9913200	Active TSS	Psoas Muscle	Psoas
9	chr8:9911200-9913400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:9911200-9913400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:9911400-9913200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:9911400-9913200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:9911400-9913200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:9911400-9913200	Active TSS	Fetal Kidney	kidney
15	chr8:9911400-9913200	Active TSS	Lung	lung
16	chr8:9911400-9913200	Active TSS	Ovary	ovary
17	chr8:9911400-9913200	Active TSS	Pancreas	Pancrea
18	chr8:9911400-9913200	Active TSS	Right Ventricle	heart
19	chr8:9911400-9913200	Active TSS	Stomach Mucosa	stomach
20	chr8:9911400-9913400	Active TSS	Fetal Intestine Large	intestine
21	chr8:9911400-9913400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:9911600-9913200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:9911600-9913200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:9911600-9913200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:9911600-9913200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:9911600-9913200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:9911600-9913200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:9911600-9913200	Active TSS	Spleen	Spleen
29	chr8:9911600-9913200	Active TSS	A549	lung
30	chr8:9911600-9913400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:9911600-9913400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:9911600-9913400	Active TSS	Fetal Brain Female	brain
33	chr8:9912000-9913600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr8:9912400-9913200	Flanking Active TSS	Placenta	Placenta
35	chr8:9912400-9913200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr8:9912600-9913200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:9912600-9913200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr8:9912600-9913200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:9912600-9913200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:9912600-9913200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:9912600-9913200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:9912600-9913200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:9912600-9913200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:9912600-9913200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr8:9912600-9913200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:9912600-9913200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr8:9912600-9913200	Flanking Active TSS	Fetal Thymus	thymus
48	chr8:9912600-9913200	Flanking Active TSS	Osteobl	bone
49	chr8:9912600-9913400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr8:9912600-9913400	Flanking 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