Variant report

Variant	rs73479220
Chromosome Location	chr13:49068820-49068821
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	GATA2	chr13:49068677-49069581	HUVEC	blood vessel:	n/a	chr13:49069226-49069237

No.	Distal block	Cell Line	Cell type
1	chr13:49068490..49070652-chr13:49071490..49073250,2	K562	blood:
2	chr13:49063272..49066257-chr13:49067561..49069081,2	K562	blood:
3	chr13:49064757..49067579-chr13:49067581..49069606,2	K562	blood:

Variant related genes	Relation type
RCBTB2	TF binding region
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12583617	1.00[EUR][1000 genomes]
rs12583644	1.00[EUR][1000 genomes]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585742	1.00[EUR][1000 genomes]
rs12857866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071937	1.00[ASN][1000 genomes]
rs2148515	1.00[ASN][1000 genomes]
rs4151472	1.00[EUR][1000 genomes]
rs4151479	1.00[EUR][1000 genomes]
rs4151524	1.00[EUR][1000 genomes]
rs4151598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449268	1.00[ASN][1000 genomes]
rs55686933	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57394470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139763	1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[ASN][1000 genomes]
rs73479216	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73495018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74077638	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[ASN][1000 genomes]
rs9316387	1.00[ASN][1000 genomes]
rs9316396	1.00[ASN][1000 genomes]
rs9316398	1.00[ASN][1000 genomes]
rs9331984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332055	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332070	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[ASN][1000 genomes]
rs9595924	1.00[ASN][1000 genomes]
rs9595926	1.00[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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49023800-49073800	Weak transcription	NH-A	brain
2	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
5	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49053600-49071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:49061400-49072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:49062600-49070800	Weak transcription	Fetal Brain Male	brain
10	chr13:49062800-49070400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:49062800-49072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49063200-49071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:49064200-49069800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49064200-49075200	Weak transcription	Fetal Intestine Large	intestine
16	chr13:49064600-49070600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:49064800-49071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:49065000-49069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:49065000-49070200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:49065400-49069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49065400-49072000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:49065600-49069000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:49066600-49069000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:49066800-49073200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
26	chr13:49067000-49069000	Enhancers	HMEC	breast
27	chr13:49067000-49069000	Enhancers	HSMM	muscle
28	chr13:49067000-49069400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:49067000-49070200	Weak transcription	Aorta	Aorta
30	chr13:49067000-49071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:49067000-49071600	Weak transcription	HepG2	liver
32	chr13:49067000-49072800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:49067000-49074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
35	chr13:49067000-49084200	Weak transcription	Ovary	ovary
36	chr13:49067200-49069000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr13:49067200-49069000	Enhancers	Primary hematopoietic stem cells	blood
38	chr13:49067200-49069000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr13:49067200-49069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:49067200-49069000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:49067200-49069000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr13:49067200-49069000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:49067200-49069000	Enhancers	Adipose Nuclei	Adipose
44	chr13:49067200-49069000	Enhancers	Brain Angular Gyrus	brain
45	chr13:49067200-49069400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:49067200-49071400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr13:49067200-49071800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr13:49067200-49072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:49067200-49072400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:49067200-49073200	Weak transcription	Stomach Smooth Muscle	stomach

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