Variant report

Variant	rs2104741
Chromosome Location	chr20:839070-839071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:836809..839072-chr20:903298..905274,2	K562	blood:
2	chr20:819681..824311-chr20:835025..839073,5	MCF-7	breast:
3	chr20:837275..840230-chr20:841827..843655,2	K562	blood:

Variant related genes	Relation type
ENSG00000101278	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58488389	1.00[EUR][1000 genomes]
rs59150599	1.00[EUR][1000 genomes]
rs59504707	1.00[EUR][1000 genomes]
rs60439782	1.00[EUR][1000 genomes]
rs60835818	1.00[EUR][1000 genomes]
rs61570771	1.00[EUR][1000 genomes]
rs7273309	1.00[EUR][1000 genomes]
rs73569221	1.00[EUR][1000 genomes]
rs73569225	1.00[EUR][1000 genomes]
rs73571446	1.00[EUR][1000 genomes]
rs73892506	1.00[EUR][1000 genomes]
rs73892549	1.00[EUR][1000 genomes]
rs73892568	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531451	chr20:70580-956299	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv529552	chr20:70580-1008849	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1060285	chr20:80197-1008850	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv544119	chr20:80197-1008850	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
5	nsv917346	chr20:344848-859960	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv912580	chr20:638921-936945	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1067424	chr20:652025-892438	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056410	chr20:653296-889512	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active 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	12 gene(s)	inside rSNPs	diseases
9	nsv544135	chr20:653296-889512	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv585191	chr20:660793-894125	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1061402	chr20:719396-896396	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1062082	chr20:743827-909518	Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1058818	chr20:757167-951344	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1062250	chr20:792397-920220	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv544136	chr20:792397-920220	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1065139	chr20:804112-1008849	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv544137	chr20:804112-1008849	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	11 gene(s)	inside rSNPs	diseases
18	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
19	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
20	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
21	nsv585193	chr20:823504-923206	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv510778	chr20:824135-886615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:825800-845800	Weak transcription	Pancreas	Pancrea
2	chr20:826800-846800	Weak transcription	Gastric	stomach
3	chr20:828200-839400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr20:828200-840000	Weak transcription	Fetal Intestine Small	intestine
5	chr20:828200-840200	Weak transcription	Adipose Nuclei	Adipose
6	chr20:834200-842400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:837000-839600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr20:837000-839800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr20:837000-840200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:837000-840400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:837000-842400	Enhancers	HMEC	breast
12	chr20:837200-839400	Weak transcription	GM12878-XiMat	blood
13	chr20:837200-840600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr20:837200-842200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:837200-842400	Enhancers	NHEK	skin
16	chr20:837400-840200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr20:837400-840400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr20:837400-840600	Weak transcription	Lung	lung
19	chr20:837400-842200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:837400-844400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:837600-839400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr20:837600-839400	Weak transcription	Spleen	Spleen
23	chr20:837600-839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr20:837600-839600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr20:837600-839800	Weak transcription	Primary T cells from cord blood	blood
26	chr20:837600-839800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr20:837600-839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr20:837600-839800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr20:837600-839800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr20:837600-840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr20:837600-840200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:837600-840200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr20:837600-840200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:837600-840400	Weak transcription	Hela-S3	cervix
35	chr20:837600-840400	Weak transcription	HSMM	muscle
36	chr20:837800-839600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr20:837800-839600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr20:837800-839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr20:837800-840000	Weak transcription	Osteobl	bone
40	chr20:837800-840400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr20:838200-839600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr20:838600-840600	Weak transcription	Esophagus	oesophagus
43	chr20:839000-839600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr20:839000-839800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr20:839000-839800	Enhancers	Placenta	Placenta
46	chr20:839000-841000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr20:839000-841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:839000-841200	Enhancers	Fetal Thymus	thymus

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