Variant report

Variant	rs7982930
Chromosome Location	chr13:95948921-95948922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95948695..95951282-chr13:96033304..96035769,2	MCF-7	breast:
2	chr13:95948663..95949423-chr13:96032842..96033682,2	MCF-7	breast:
3	chr13:95844110..95844687-chr13:95948689..95949204,2	MCF-7	breast:
4	chr13:95946953..95949885-chr13:95950238..95955332,4	K562	blood:
5	chr13:95946953..95949885-chr13:95950441..95955332,5	K562	blood:
6	chr13:95931327..95933216-chr13:95948298..95949937,2	K562	blood:
7	chr13:95948894..95949810-chr13:96056285..96057228,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56699954	1.00[AMR][1000 genomes]
rs7333637	1.00[AMR][1000 genomes]
rs7987920	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv2829991	chr13:95942492-95981856	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3693403	chr13:95942492-95981856	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv456079	chr13:95942492-96027507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv562771	chr13:95942492-96027507	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv1049988	chr13:95942492-96038728	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv1036031	chr13:95943731-96030662	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1053262	chr13:95943731-96032829	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv456080	chr13:95943885-96015129	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv562772	chr13:95943885-96015129	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv456081	chr13:95943885-96027507	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	nsv562773	chr13:95943885-96027507	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv1047902	chr13:95945118-96032829	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

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	chr13:95933000-95952600	Weak transcription	Primary T cells from cord blood	blood
5	chr13:95933400-95952600	Weak transcription	Fetal Stomach	stomach
6	chr13:95933600-95951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:95933800-95952400	Weak transcription	HSMM	muscle
8	chr13:95933800-95952400	Weak transcription	NHDF-Ad	bronchial
9	chr13:95934000-95949600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:95934000-95951600	Weak transcription	Osteobl	bone
11	chr13:95935400-95949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:95938200-95952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:95938400-95949800	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:95938400-95950800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:95938800-95952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:95939000-95951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:95940200-95952000	Weak transcription	Left Ventricle	heart
18	chr13:95941800-95952400	Weak transcription	Esophagus	oesophagus
19	chr13:95941800-95952400	Weak transcription	Pancreas	Pancrea
20	chr13:95942000-95950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:95942000-95951000	Weak transcription	HUVEC	blood vessel
22	chr13:95943600-95952400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:95943800-95952400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:95945400-95950800	Weak transcription	NHEK	skin
25	chr13:95945400-95951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:95945400-95951000	Weak transcription	NHLF	lung
27	chr13:95945600-95952400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:95946800-95951600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:95947000-95952400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:95947600-95949000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:95947600-95949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:95947600-95952400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:95948600-95949000	Enhancers	Gastric	stomach
34	chr13:95948600-95949000	Enhancers	Lung	lung
35	chr13:95948600-95949000	Enhancers	Psoas Muscle	Psoas
36	chr13:95948600-95949200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:95948600-95949200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:95948600-95949600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr13:95948600-95949800	Enhancers	K562	blood
40	chr13:95948600-95950000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr13:95948600-95950200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:95948600-95952600	Enhancers	Fetal Intestine Large	intestine
43	chr13:95948800-95949000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:95948800-95949000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:95948800-95949000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr13:95948800-95949000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr13:95948800-95949000	Flanking Active TSS	GM12878-XiMat	blood
48	chr13:95948800-95949200	Enhancers	Colonic Mucosa	Colon
49	chr13:95948800-95949200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr13:95948800-95949200	Flanking Active TSS	A549	lung

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