Variant report

Variant	rs9562800
Chromosome Location	chr13:48622981-48622982
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48621450..48623489-chr13:48625313..48627091,2	K562	blood:
2	chr13:48614818..48616446-chr13:48622273..48624246,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12584652	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327655	0.81[EUR][1000 genomes]
rs17350996	0.95[EUR][1000 genomes]
rs2025865	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35299472	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3809330	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4941627	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4942742	0.84[EUR][1000 genomes]
rs4942743	0.84[EUR][1000 genomes]
rs4942747	0.84[EUR][1000 genomes]
rs4942749	0.84[EUR][1000 genomes]
rs4942750	0.84[EUR][1000 genomes]
rs4942751	0.84[EUR][1000 genomes]
rs4942752	0.84[EUR][1000 genomes]
rs6561434	0.84[EUR][1000 genomes]
rs7317431	0.80[EUR][1000 genomes]
rs7318704	0.80[EUR][1000 genomes]
rs7322766	0.81[EUR][1000 genomes]
rs7323969	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7330472	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7331900	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7332147	0.83[EUR][1000 genomes]
rs7332326	0.83[EUR][1000 genomes]
rs7338844	0.84[EUR][1000 genomes]
rs7338999	0.84[EUR][1000 genomes]
rs7339370	0.84[EUR][1000 genomes]
rs7981114	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7986400	0.84[EUR][1000 genomes]
rs7990060	0.84[EUR][1000 genomes]
rs9285165	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9316346	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9316347	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9316348	0.84[EUR][1000 genomes]
rs9316349	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9316352	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9316353	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9316354	0.83[EUR][1000 genomes]
rs9316355	0.84[EUR][1000 genomes]
rs9316356	0.84[EUR][1000 genomes]
rs9316357	0.84[EUR][1000 genomes]
rs9316358	0.84[EUR][1000 genomes]
rs9316359	0.84[EUR][1000 genomes]
rs9316360	0.80[EUR][1000 genomes]
rs9562806	0.84[EUR][1000 genomes]
rs9562808	0.86[EUR][1000 genomes]
rs9567979	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9567993	0.96[EUR][1000 genomes]
rs9567999	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9568000	0.80[EUR][1000 genomes]
rs9568001	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9568002	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9568003	0.84[EUR][1000 genomes]
rs9568004	0.84[EUR][1000 genomes]
rs9568005	0.84[EUR][1000 genomes]
rs9568006	0.84[EUR][1000 genomes]
rs9568008	0.84[EUR][1000 genomes]
rs9568009	0.84[EUR][1000 genomes]
rs9568010	0.80[EUR][1000 genomes]
rs9568015	0.82[EUR][1000 genomes]
rs9591135	0.84[EUR][1000 genomes]
rs9591138	0.84[EUR][1000 genomes]
rs9591139	0.84[EUR][1000 genomes]
rs9591140	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9595835	0.88[EUR][1000 genomes]
rs9595836	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9595837	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9595843	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612400-48625000	Weak transcription	Spleen	Spleen
2	chr13:48612600-48623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48612600-48624200	Weak transcription	Gastric	stomach
4	chr13:48612600-48624800	Weak transcription	Ovary	ovary
5	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
8	chr13:48612800-48624600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:48612800-48624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:48612800-48625000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:48612800-48628000	Weak transcription	Fetal Brain Male	brain
12	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
14	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:48613200-48624800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:48613200-48624800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:48613200-48626600	Weak transcription	Right Ventricle	heart
19	chr13:48613200-48629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
22	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:48613400-48624800	Weak transcription	Brain Anterior Caudate	brain
25	chr13:48613400-48625800	Weak transcription	K562	blood
26	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr13:48613600-48625200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
30	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
31	chr13:48614400-48627600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:48614400-48628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:48614800-48628200	Strong transcription	Dnd41	blood
35	chr13:48615000-48623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:48615000-48623800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:48615800-48623000	Weak transcription	Thymus	Thymus
38	chr13:48616200-48625000	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:48616200-48625400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:48616400-48623000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:48616400-48623800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:48616400-48624000	Weak transcription	Adipose Nuclei	Adipose
43	chr13:48616400-48624200	Weak transcription	Fetal Kidney	kidney
44	chr13:48616400-48626600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr13:48616400-48626600	Weak transcription	Pancreas	Pancrea
46	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr13:48616600-48625400	Weak transcription	Brain Angular Gyrus	brain
48	chr13:48616600-48626600	Weak transcription	Fetal Lung	lung
49	chr13:48616800-48623800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr13:48617600-48626600	Weak transcription	Esophagus	oesophagus

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