Variant report

Variant	rs763808
Chromosome Location	chr13:30882539-30882540
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	JUND	chr13:30882519-30883107	K562	blood:	n/a	chr13:30882835-30882843 chr13:30882833-30882845 chr13:30882836-30882843 chr13:30882834-30882844 chr13:30882835-30882843
2	IRF1	chr13:30881292-30883044	K562	blood:	n/a	n/a
3	NFIC	chr13:30882324-30883423	GM12878	blood:	n/a	n/a
4	SPI1	chr13:30882464-30883270	GM12878	blood:	n/a	chr13:30882731-30882744 chr13:30882735-30882742
5	RUNX3	chr13:30882539-30883144	GM12878	blood:	n/a	n/a
6	BACH1	chr13:30882437-30883242	K562	blood:	n/a	chr13:30882832-30882846

No.	Distal block	Cell Line	Cell type
1	chr13:30882203..30884087-chr13:30995822..30997883,2	MCF-7	breast:
2	chr13:30880213..30882773-chr13:31038194..31039987,2	K562	blood:
3	chr13:30881311..30882964-chr13:31038012..31040659,2	K562	blood:

Variant related genes	Relation type
KATNAL1	TF binding region
ENSG00000225039	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12873373	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35962246	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4769824	0.98[EUR][1000 genomes]
rs6490453	0.98[EUR][1000 genomes]
rs7335432	0.86[EUR][1000 genomes]
rs756850	0.83[EUR][1000 genomes]
rs7991052	0.91[EUR][1000 genomes]
rs9506288	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9506290	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9506291	0.86[EUR][1000 genomes]
rs9506292	0.86[EUR][1000 genomes]
rs9508700	0.96[EUR][1000 genomes]
rs9508701	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9508702	0.96[EUR][1000 genomes]
rs9508703	0.96[EUR][1000 genomes]
rs9508705	0.86[EUR][1000 genomes]
rs9508706	0.86[EUR][1000 genomes]
rs9508711	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551887	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634361	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327826	chr13:30880377-30882925	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30880000-30882800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr13:30880200-30883000	Active TSS	K562	blood
3	chr13:30881800-30883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr13:30881800-30883000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:30881800-30883400	Flanking Active TSS	GM12878-XiMat	blood
6	chr13:30882000-30882600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:30882000-30882600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr13:30882000-30885200	Weak transcription	Gastric	stomach
9	chr13:30882000-30889000	Weak transcription	Spleen	Spleen
10	chr13:30882200-30882600	Enhancers	NHEK	skin
11	chr13:30882200-30883000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:30882200-30883000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:30882200-30883000	Enhancers	Fetal Thymus	thymus
14	chr13:30882200-30883000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr13:30882200-30883000	Enhancers	Hela-S3	cervix
16	chr13:30882200-30883200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:30882200-30883200	Enhancers	Fetal Heart	heart
18	chr13:30882200-30884200	Weak transcription	Aorta	Aorta
19	chr13:30882200-30885800	Weak transcription	Lung	lung
20	chr13:30882200-30885800	Weak transcription	Thymus	Thymus
21	chr13:30882200-30886000	Weak transcription	Esophagus	oesophagus
22	chr13:30882200-30886600	Weak transcription	HSMMtube	muscle
23	chr13:30882200-30887400	Weak transcription	Primary T cells from cord blood	blood
24	chr13:30882200-30889200	Weak transcription	Left Ventricle	heart
25	chr13:30882200-30889600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:30882200-30892200	Weak transcription	Psoas Muscle	Psoas
27	chr13:30882200-30893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:30882200-30896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:30882200-30896200	Weak transcription	Ovary	ovary
30	chr13:30882200-30910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:30882400-30882600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:30882400-30882600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:30882400-30882600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:30882400-30882600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:30882400-30882600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:30882400-30882600	Enhancers	Primary hematopoietic stem cells	blood
37	chr13:30882400-30882600	Enhancers	Adipose Nuclei	Adipose
38	chr13:30882400-30882800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:30882400-30882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:30882400-30882800	Weak transcription	Brain Angular Gyrus	brain
41	chr13:30882400-30882800	Weak transcription	Brain Substantia Nigra	brain
42	chr13:30882400-30882800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr13:30882400-30882800	Enhancers	Rectal Smooth Muscle	rectum
44	chr13:30882400-30882800	Enhancers	HUVEC	blood vessel
45	chr13:30882400-30883000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr13:30882400-30883000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr13:30882400-30883000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:30882400-30883000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:30882400-30883000	Enhancers	Brain Anterior Caudate	brain
50	chr13:30882400-30883000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links