Variant report

Variant	rs7363318
Chromosome Location	chr20:25536427-25536428
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	chr20:25527993..25531935-chr20:25532103..25536605,5	MCF-7	breast:
2	chr20:25535541..25538221-chr20:25603940..25606059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6107032	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6107051	0.80[AFR][1000 genomes]
rs6115217	0.83[AMR][1000 genomes]
rs6115245	0.83[AMR][1000 genomes]
rs7263188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7274264	0.81[AFR][1000 genomes];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	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS 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	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv912832	chr20:25527984-25595175	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
3	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:25526400-25543600	Weak transcription	Fetal Brain Female	brain
5	chr20:25526600-25540200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr20:25530600-25542800	Weak transcription	HSMM	muscle
7	chr20:25530800-25540000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:25531000-25554000	Weak transcription	Osteobl	bone
9	chr20:25531200-25540200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:25531200-25544400	Weak transcription	Fetal Brain Male	brain
11	chr20:25531200-25559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:25532600-25539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr20:25532600-25540200	Weak transcription	Fetal Intestine Large	intestine
14	chr20:25532600-25551600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr20:25532600-25559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:25532600-25565000	Weak transcription	HSMMtube	muscle
17	chr20:25532800-25537000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:25532800-25539200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr20:25532800-25544400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr20:25533000-25536800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:25533000-25540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr20:25533000-25543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr20:25533400-25537800	Genic enhancers	HepG2	liver
24	chr20:25533400-25538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr20:25533400-25539200	Weak transcription	Dnd41	blood
26	chr20:25533400-25544200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr20:25533400-25546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr20:25533400-25549600	Weak transcription	Fetal Intestine Small	intestine
29	chr20:25534000-25540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:25534800-25538200	Weak transcription	NHDF-Ad	bronchial
31	chr20:25534800-25539600	Weak transcription	Lung	lung
32	chr20:25534800-25544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:25534800-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:25534800-25551800	Weak transcription	HUVEC	blood vessel
35	chr20:25534800-25557600	Weak transcription	Pancreas	Pancrea
36	chr20:25534800-25561400	Weak transcription	Right Atrium	heart
37	chr20:25535000-25537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:25535000-25537800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:25535000-25539200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr20:25535000-25539400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr20:25535000-25543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:25535000-25543400	Weak transcription	Fetal Muscle Leg	muscle
43	chr20:25535000-25543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr20:25535000-25543600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr20:25535000-25543800	Weak transcription	Fetal Lung	lung
46	chr20:25535000-25545400	Weak transcription	Thymus	Thymus
47	chr20:25535000-25546400	Weak transcription	Ovary	ovary
48	chr20:25535000-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:25535000-25550200	Weak transcription	Gastric	stomach
50	chr20:25535000-25554400	Weak transcription	Brain Anterior Caudate	brain

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