Variant report

Variant	rs9534932
Chromosome Location	chr13:48623959-48623960
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48612235..48613841-chr13:48623262..48624820,2	K562	blood:
2	chr13:48614818..48616446-chr13:48622273..48624246,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1410117	0.84[ASN][1000 genomes]
rs1571256	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1927213	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094192	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2104480	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2148246	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2148938	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406709	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2406797	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4294712	0.84[ASN][1000 genomes]
rs4941623	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4942748	0.87[ASN][1000 genomes]
rs56399021	0.86[ASN][1000 genomes]
rs7324484	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7326363	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336214	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8001243	0.86[ASN][1000 genomes]
rs9526442	0.84[ASN][1000 genomes]
rs9526443	0.84[ASN][1000 genomes]
rs9526445	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526447	0.84[ASN][1000 genomes]
rs9526449	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526451	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9534931	0.94[ASN][1000 genomes]
rs9534933	0.86[ASN][1000 genomes]
rs9534937	0.86[ASN][1000 genomes]
rs9534939	0.86[ASN][1000 genomes]
rs9534943	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534944	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534945	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534946	0.85[ASN][1000 genomes]
rs9534947	0.85[ASN][1000 genomes]
rs9534948	0.85[ASN][1000 genomes]
rs9534950	0.88[ASN][1000 genomes]
rs9534951	0.82[ASN][1000 genomes]
rs9534952	0.84[ASN][1000 genomes]
rs9534957	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562802	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567987	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9567991	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9567994	0.87[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612400-48625000	Weak transcription	Spleen	Spleen
2	chr13:48612600-48624200	Weak transcription	Gastric	stomach
3	chr13:48612600-48624800	Weak transcription	Ovary	ovary
4	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
7	chr13:48612800-48624600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:48612800-48624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:48612800-48625000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:48612800-48628000	Weak transcription	Fetal Brain Male	brain
11	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
13	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:48613200-48624800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:48613200-48624800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:48613200-48626600	Weak transcription	Right Ventricle	heart
18	chr13:48613200-48629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
21	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:48613400-48624800	Weak transcription	Brain Anterior Caudate	brain
24	chr13:48613400-48625800	Weak transcription	K562	blood
25	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:48613600-48625200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
29	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
30	chr13:48614400-48627600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:48614400-48628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr13:48614800-48628200	Strong transcription	Dnd41	blood
34	chr13:48616200-48625000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:48616200-48625400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:48616400-48624000	Weak transcription	Adipose Nuclei	Adipose
37	chr13:48616400-48624200	Weak transcription	Fetal Kidney	kidney
38	chr13:48616400-48626600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:48616400-48626600	Weak transcription	Pancreas	Pancrea
40	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:48616600-48625400	Weak transcription	Brain Angular Gyrus	brain
42	chr13:48616600-48626600	Weak transcription	Fetal Lung	lung
43	chr13:48617600-48626600	Weak transcription	Esophagus	oesophagus
44	chr13:48618800-48625200	Weak transcription	HSMMtube	muscle
45	chr13:48618800-48626200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
47	chr13:48619200-48624200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:48619200-48628200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:48619600-48627400	Strong transcription	Fetal Thymus	thymus
50	chr13:48619600-48630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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