Variant report

Variant	rs62020701
Chromosome Location	chr15:43259081-43259082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43227976..43230941-chr15:43258410..43260187,2	K562	blood:
2	chr15:43017657..43020242-chr15:43257370..43259686,2	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62019360	1.00[AFR][1000 genomes]
rs62019362	1.00[AFR][1000 genomes]
rs62020665	1.00[AFR][1000 genomes]
rs62020666	1.00[AFR][1000 genomes]
rs62020680	1.00[AFR][1000 genomes]
rs62020698	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62020748	1.00[AFR][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	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3421859	chr15:43249285-43280570	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:43241600-43259200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:43241600-43259800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:43241600-43261800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:43241600-43271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:43241600-43271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:43241800-43259400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:43241800-43270800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr15:43242200-43259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:43242200-43270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:43242800-43262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43243800-43265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43244000-43276400	Weak transcription	Psoas Muscle	Psoas
16	chr15:43244600-43266200	Weak transcription	Gastric	stomach
17	chr15:43247600-43260800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
19	chr15:43248200-43259400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:43248200-43265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:43249400-43265000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:43249400-43268800	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:43249600-43265000	Weak transcription	A549	lung
24	chr15:43249600-43283200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:43249800-43262600	Weak transcription	Fetal Kidney	kidney
26	chr15:43250000-43261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:43250000-43264800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:43251400-43261200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:43251400-43269800	Strong transcription	Fetal Thymus	thymus
30	chr15:43251800-43259200	Strong transcription	Brain Germinal Matrix	brain
31	chr15:43251800-43259600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:43252400-43298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:43252600-43262600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:43252600-43265000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:43252800-43263400	Weak transcription	Hela-S3	cervix
36	chr15:43252800-43264000	Weak transcription	HSMMtube	muscle
37	chr15:43252800-43295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:43253000-43260400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr15:43253000-43262400	Weak transcription	Fetal Brain Male	brain
40	chr15:43253000-43265000	Weak transcription	K562	blood
41	chr15:43253600-43265400	Weak transcription	Pancreas	Pancrea
42	chr15:43254400-43259200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:43254600-43261800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr15:43254800-43266800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:43255200-43262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:43255200-43265200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:43255200-43278800	Weak transcription	Esophagus	oesophagus
48	chr15:43255400-43262600	Weak transcription	Brain Angular Gyrus	brain
49	chr15:43255400-43263600	Weak transcription	HepG2	liver
50	chr15:43255800-43260400	Weak transcription	Muscle Satellite Cultured Cells	--

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