Variant report

Variant	rs7994530
Chromosome Location	chr13:39621712-39621713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39620977..39623445-chr13:39625294..39627336,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11147745	0.88[ASN][1000 genomes]
rs12428445	0.88[ASN][1000 genomes]
rs12429324	0.88[ASN][1000 genomes]
rs12429338	0.88[ASN][1000 genomes]
rs12430450	0.88[ASN][1000 genomes]
rs12431316	0.87[ASN][1000 genomes]
rs1326405	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17058947	0.88[ASN][1000 genomes]
rs17058990	0.92[ASN][1000 genomes]
rs17059014	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2094252	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094253	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094254	0.87[ASN][1000 genomes]
rs2104518	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2274384	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274385	0.88[ASN][1000 genomes]
rs2296648	0.88[ASN][1000 genomes]
rs34316151	0.87[ASN][1000 genomes]
rs34327528	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35804724	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35864330	0.87[ASN][1000 genomes]
rs3751377	0.88[ASN][1000 genomes]
rs3751378	0.88[ASN][1000 genomes]
rs3751379	0.88[ASN][1000 genomes]
rs3812879	0.97[ASN][1000 genomes]
rs4142398	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55809136	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66496062	0.87[ASN][1000 genomes]
rs66908302	0.86[ASN][1000 genomes]
rs67296293	0.86[ASN][1000 genomes]
rs73169457	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7317852	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7318688	0.92[ASN][1000 genomes]
rs7327748	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs747752	0.88[ASN][1000 genomes]
rs7987207	0.86[ASN][1000 genomes]
rs7997052	0.85[ASN][1000 genomes]
rs7998475	0.87[ASN][1000 genomes]
rs8000929	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9566385	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9566389	0.88[ASN][1000 genomes]
rs9566391	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9566393	0.96[ASN][1000 genomes]
rs9566396	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566397	0.90[ASN][1000 genomes]
rs9576670	0.86[ASN][1000 genomes]
rs9576673	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576674	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576676	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576677	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576678	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576679	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576681	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9576683	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576684	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576685	0.87[ASN][1000 genomes]
rs9576686	0.87[ASN][1000 genomes]
rs9576688	0.87[ASN][1000 genomes]
rs9576690	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9576691	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9576692	0.87[ASN][1000 genomes]
rs9576693	0.85[ASN][1000 genomes]
rs9576695	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576696	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576697	0.88[ASN][1000 genomes]
rs9576698	0.88[ASN][1000 genomes]
rs9576699	0.88[ASN][1000 genomes]
rs9576700	0.88[ASN][1000 genomes]
rs9576701	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576703	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576705	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576707	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576717	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7994530	C13orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
3	chr13:39613200-39622200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:39613200-39626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:39613200-39636400	Weak transcription	Gastric	stomach
6	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
7	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
8	chr13:39613200-39647200	Weak transcription	Lung	lung
9	chr13:39613400-39622400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:39613400-39625000	Weak transcription	HSMMtube	muscle
11	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
12	chr13:39613600-39623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:39613600-39625200	Weak transcription	NHLF	lung
14	chr13:39613600-39626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:39613600-39626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr13:39613800-39622400	Weak transcription	HSMM	muscle
20	chr13:39613800-39623200	Weak transcription	HMEC	breast
21	chr13:39613800-39627000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
23	chr13:39614000-39625400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr13:39614000-39627000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:39614000-39627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:39614000-39628400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
28	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:39614600-39623800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:39615000-39621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:39615000-39621800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr13:39615000-39625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:39615000-39625800	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:39615000-39626600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:39615000-39627000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:39615000-39628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:39615000-39629800	Weak transcription	Brain Germinal Matrix	brain
38	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
39	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine
40	chr13:39615000-39638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:39615200-39627000	Weak transcription	K562	blood
42	chr13:39615200-39631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:39615200-39637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:39615400-39622000	Weak transcription	Fetal Lung	lung
45	chr13:39615400-39627800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr13:39615600-39623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:39617000-39624600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr13:39617200-39628800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr13:39617800-39623000	Strong transcription	Primary T cells from cord blood	blood
50	chr13:39618200-39629200	Weak transcription	NHDF-Ad	bronchial

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