Variant report

Variant	rs7982809
Chromosome Location	chr13:95941609-95941610
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	chr13:95935600..95938321-chr13:95941530..95943293,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4773871	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4773875	0.84[ASN][1000 genomes]
rs7324937	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv900926	chr13:95927386-95972496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv900927	chr13:95927386-95975185	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv900928	chr13:95929326-95946640	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv456078	chr13:95929888-95972496	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv562770	chr13:95929888-95972496	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv900929	chr13:95930072-95972496	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv900930	chr13:95930072-95975185	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv900931	chr13:95930685-95972496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1039391	chr13:95931369-96038728	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv471169	chr13:95931992-95972496	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv517610	chr13:95931992-96035883	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1047208	chr13:95935757-96036053	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1044162	chr13:95936858-96032829	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv1044131	chr13:95939874-96016445	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1040348	chr13:95939874-96032829	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv1042622	chr13:95939874-96038728	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7982809	UGGT2	cis	cerebellar cortex	BrainEAC
rs7982809	ABCC4	cis	Thyroid	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
2	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:95933000-95952600	Weak transcription	Primary T cells from cord blood	blood
6	chr13:95933400-95952600	Weak transcription	Fetal Stomach	stomach
7	chr13:95933600-95951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:95933800-95941800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:95933800-95952400	Weak transcription	HSMM	muscle
10	chr13:95933800-95952400	Weak transcription	NHDF-Ad	bronchial
11	chr13:95934000-95949600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:95934000-95951600	Weak transcription	Osteobl	bone
13	chr13:95934600-95943600	Weak transcription	NHLF	lung
14	chr13:95935400-95949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:95937600-95948600	Weak transcription	Lung	lung
16	chr13:95938200-95942000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr13:95938200-95952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:95938400-95949800	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:95938400-95950800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:95938800-95945000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:95938800-95948800	Weak transcription	Colonic Mucosa	Colon
22	chr13:95938800-95952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:95939000-95951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:95939400-95943800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:95939400-95948600	Weak transcription	Fetal Intestine Large	intestine
26	chr13:95940200-95952000	Weak transcription	Left Ventricle	heart
27	chr13:95940800-95941800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:95940800-95942000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr13:95941000-95942000	Enhancers	Duodenum Mucosa	Duodenum
30	chr13:95941000-95942000	Enhancers	HUVEC	blood vessel
31	chr13:95941200-95941800	Enhancers	Fetal Lung	lung
32	chr13:95941200-95941800	Enhancers	Small Intestine	intestine
33	chr13:95941200-95941800	Enhancers	Stomach Mucosa	stomach
34	chr13:95941200-95941800	Genic enhancers	K562	blood
35	chr13:95941200-95941800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr13:95941200-95942000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr13:95941400-95941800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:95941400-95941800	Enhancers	Fetal Kidney	kidney
39	chr13:95941400-95942000	Enhancers	Fetal Intestine Small	intestine
40	chr13:95941400-95942000	Enhancers	NH-A	brain
41	chr13:95941600-95941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:95941600-95941800	Enhancers	Esophagus	oesophagus
43	chr13:95941600-95941800	Enhancers	Pancreas	Pancrea
44	chr13:95941600-95941800	Enhancers	A549	lung
45	chr13:95941600-95941800	Enhancers	GM12878-XiMat	blood
46	chr13:95941600-95942000	Enhancers	Gastric	stomach
47	chr13:95941600-95942200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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