Variant report

Variant	rs9521911
Chromosome Location	chr13:111370615-111370616
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:6)
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	STAT3	chr13:111370429-111370996	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111368423..111371345-chr13:111411343..111413791,2	K562	blood:
2	chr13:111368227..111372332-chr13:111523767..111528470,4	MCF-7	breast:
3	chr13:111369238..111370926-chr13:111469808..111471332,2	K562	blood:
4	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
5	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
6	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

No data

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000213995	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11843661	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12184676	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34523940	0.96[ASN][1000 genomes]
rs3742182	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3858823	0.85[ASN][1000 genomes]
rs3934248	0.86[ASN][1000 genomes]
rs4773239	0.85[EUR][1000 genomes]
rs61969072	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61969074	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61969076	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61971610	0.87[ASN][1000 genomes]
rs61971611	0.96[ASN][1000 genomes]
rs6492309	0.86[ASN][1000 genomes]
rs71445078	0.86[EUR][1000 genomes]
rs7992818	0.87[EUR][1000 genomes]
rs7999536	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999702	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9515270	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521906	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521916	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9521921	0.86[ASN][1000 genomes]
rs9521923	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521925	0.86[ASN][1000 genomes]
rs9521926	0.86[ASN][1000 genomes]
rs9583531	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583532	0.84[EUR][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	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription 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 target site	240 gene(s)	inside rSNPs	diseases
4	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111363600-111370800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:111363800-111370800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:111364400-111370800	Active TSS	NHLF	lung
4	chr13:111368800-111370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:111368800-111370800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr13:111368800-111371200	Weak transcription	Gastric	stomach
7	chr13:111368800-111371200	Weak transcription	Spleen	Spleen
8	chr13:111368800-111371600	Weak transcription	Small Intestine	intestine
9	chr13:111369000-111370800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:111369000-111371000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr13:111369000-111371200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111369000-111371400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:111369000-111371400	Weak transcription	Esophagus	oesophagus
14	chr13:111369000-111371600	Weak transcription	Aorta	Aorta
15	chr13:111369000-111371600	Enhancers	Fetal Brain Male	brain
16	chr13:111369200-111370800	Enhancers	Primary B cells from cord blood	blood
17	chr13:111369200-111370800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr13:111369200-111370800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:111369200-111370800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr13:111369200-111370800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:111369200-111371000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:111369200-111371000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:111369200-111371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:111369200-111371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:111369200-111371400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr13:111369200-111371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:111369200-111371600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:111369200-111376000	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:111369200-111376200	Weak transcription	HSMMtube	muscle
30	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:111369400-111370800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:111369400-111370800	Enhancers	Stomach Mucosa	stomach
33	chr13:111369400-111371000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr13:111369400-111371600	Weak transcription	Right Ventricle	heart
35	chr13:111369600-111370800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:111369600-111371600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr13:111369800-111370800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:111369800-111370800	Enhancers	Psoas Muscle	Psoas
39	chr13:111369800-111370800	Flanking Active TSS	Hela-S3	cervix
40	chr13:111369800-111371400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr13:111369800-111373800	Weak transcription	Brain Angular Gyrus	brain
42	chr13:111370000-111370800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:111370000-111370800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:111370000-111370800	Enhancers	Brain Substantia Nigra	brain
45	chr13:111370000-111370800	Enhancers	Fetal Muscle Trunk	muscle
46	chr13:111370000-111370800	Enhancers	Fetal Muscle Leg	muscle
47	chr13:111370000-111370800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr13:111370000-111370800	Enhancers	Dnd41	blood
49	chr13:111370000-111370800	Enhancers	NH-A	brain
50	chr13:111370000-111371200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links