Variant report

Variant	rs7983813
Chromosome Location	chr13:95936858-95936859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95935600..95938321-chr13:95941530..95943293,2	K562	blood:
2	chr13:95929149..95932336-chr13:95935085..95938343,4	K562	blood:
3	chr13:95922109..95924473-chr13:95936856..95939759,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1751069	1.00[AMR][1000 genomes]
rs7323306	1.00[AMR][1000 genomes]
rs73548840	0.82[AFR][1000 genomes]
rs73548889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
2	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:95927000-95937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:95927000-95938000	Weak transcription	Colonic Mucosa	Colon
8	chr13:95927200-95941600	Weak transcription	Gastric	stomach
9	chr13:95928400-95937600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:95928400-95937800	Weak transcription	Fetal Intestine Small	intestine
11	chr13:95932200-95937600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:95932400-95939200	Weak transcription	Left Ventricle	heart
13	chr13:95932600-95938000	Weak transcription	Right Atrium	heart
14	chr13:95932600-95939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:95933000-95952600	Weak transcription	Primary T cells from cord blood	blood
16	chr13:95933200-95937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:95933400-95937600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:95933400-95952600	Weak transcription	Fetal Stomach	stomach
19	chr13:95933600-95937800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:95933600-95951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:95933800-95938000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:95933800-95938000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:95933800-95938200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:95933800-95941800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:95933800-95952400	Weak transcription	HSMM	muscle
26	chr13:95933800-95952400	Weak transcription	NHDF-Ad	bronchial
27	chr13:95934000-95937800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:95934000-95937800	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:95934000-95941000	Weak transcription	HUVEC	blood vessel
30	chr13:95934000-95941400	Weak transcription	Fetal Kidney	kidney
31	chr13:95934000-95941600	Weak transcription	A549	lung
32	chr13:95934000-95949600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:95934000-95951600	Weak transcription	Osteobl	bone
34	chr13:95934200-95937800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr13:95934200-95938000	Weak transcription	Psoas Muscle	Psoas
36	chr13:95934200-95941600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:95934600-95943600	Weak transcription	NHLF	lung
38	chr13:95934800-95937200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:95935200-95937600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr13:95935400-95949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:95936400-95938000	Enhancers	GM12878-XiMat	blood
42	chr13:95936600-95937000	Genic enhancers	K562	blood
43	chr13:95936600-95937600	Enhancers	Lung	lung

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