Variant report

Variant	rs7990573
Chromosome Location	chr13:49696239-49696240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12872974	0.91[EUR][1000 genomes]
rs1359066	0.91[EUR][1000 genomes]
rs1407827	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407829	0.94[EUR][1000 genomes]
rs1535922	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1928109	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1937181	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983805	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2021622	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2146748	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2147399	0.82[AMR][1000 genomes]
rs2181537	0.92[EUR][1000 genomes]
rs2181538	0.92[EUR][1000 genomes]
rs2181539	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2183095	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2224742	0.86[ASN][1000 genomes]
rs2407266	0.81[EUR][1000 genomes]
rs2897633	0.83[EUR][1000 genomes]
rs2987535	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2994377	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994378	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994379	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2994380	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2994381	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3012116	0.81[EUR][1000 genomes]
rs3012117	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3012118	0.81[EUR][1000 genomes]
rs3012121	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3012127	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3012133	0.81[AMR][1000 genomes]
rs3012135	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3012136	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34360275	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35018425	0.82[EUR][1000 genomes]
rs4142065	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4245350	0.82[EUR][1000 genomes]
rs4530025	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4942800	0.90[EUR][1000 genomes]
rs6561493	0.90[EUR][1000 genomes]
rs6561496	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6561497	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67235936	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7139746	0.82[AMR][1000 genomes]
rs7139819	0.84[EUR][1000 genomes]
rs716722	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7317908	0.82[EUR][1000 genomes]
rs7318871	0.91[EUR][1000 genomes]
rs7328000	0.82[EUR][1000 genomes]
rs7331917	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7333285	0.82[EUR][1000 genomes]
rs7338529	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7988168	0.81[EUR][1000 genomes]
rs7994845	0.83[EUR][1000 genomes]
rs7994910	0.83[EUR][1000 genomes]
rs7995616	0.82[EUR][1000 genomes]
rs7996151	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316428	0.83[EUR][1000 genomes]
rs9526525	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535126	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9535136	0.81[EUR][1000 genomes]
rs9535140	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535141	0.90[EUR][1000 genomes]
rs9535145	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535146	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9535147	0.91[EUR][1000 genomes]
rs9535149	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9535154	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535155	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535156	0.85[EUR][1000 genomes]
rs9535166	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535167	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562870	0.80[EUR][1000 genomes]
rs9568150	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568151	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568154	0.86[ASN][1000 genomes]
rs9591235	0.83[EUR][1000 genomes]
rs9596064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972297	0.80[AMR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49685600-49705400	Weak transcription	K562	blood
2	chr13:49687600-49705800	Weak transcription	Small Intestine	intestine
3	chr13:49687600-49706200	Weak transcription	Fetal Heart	heart
4	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
5	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
6	chr13:49688000-49705000	Weak transcription	Right Ventricle	heart
7	chr13:49688200-49702200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:49690200-49705200	Weak transcription	Brain Anterior Caudate	brain
10	chr13:49690600-49698800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:49691400-49705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:49691600-49698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:49691600-49702200	Weak transcription	Psoas Muscle	Psoas
14	chr13:49691800-49698800	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:49691800-49700200	Weak transcription	NH-A	brain
16	chr13:49691800-49700800	Weak transcription	NHDF-Ad	bronchial
17	chr13:49691800-49705200	Weak transcription	HMEC	breast
18	chr13:49692000-49705200	Weak transcription	NHLF	lung
19	chr13:49692200-49697200	Weak transcription	Fetal Brain Male	brain
20	chr13:49692200-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:49692400-49698800	Weak transcription	Brain Angular Gyrus	brain
22	chr13:49692400-49699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:49692600-49701000	Weak transcription	HUVEC	blood vessel
24	chr13:49692800-49705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:49693000-49698800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:49693400-49696400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:49693400-49699000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:49693400-49705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:49693400-49705200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:49693400-49705200	Weak transcription	Aorta	Aorta
31	chr13:49693400-49706600	Weak transcription	A549	lung
32	chr13:49693600-49698600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:49693600-49698600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr13:49693600-49698600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:49693600-49698600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr13:49693600-49698600	Weak transcription	Brain Substantia Nigra	brain
37	chr13:49693600-49698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr13:49693600-49698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:49693600-49698800	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:49693600-49699000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:49693600-49699000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:49693600-49699000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr13:49693600-49699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:49693600-49699000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:49693600-49699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:49693600-49699000	Weak transcription	Dnd41	blood
47	chr13:49693600-49700600	Weak transcription	Fetal Muscle Leg	muscle
48	chr13:49693600-49700800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr13:49693600-49700800	Weak transcription	NHEK	skin
50	chr13:49693600-49701000	Weak transcription	Primary B cells from peripheral blood	blood

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