Variant report

Variant	rs6512914
Chromosome Location	chr20:52417700-52417701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57918233..57920704-chr20:52417367..52420341,3	MCF-7	breast:
2	chr20:52417105..52418792-chr20:55840075..55841821,2	MCF-7	breast:
3	chr20:52417422..52419776-chr20:52823740..52825810,2	MCF-7	breast:
4	chr12:107485279..107488399-chr20:52417145..52419704,3	MCF-7	breast:
5	chr20:52416160..52417780-chr3:64007090..64009548,2	MCF-7	breast:
6	chr17:57914792..57918180-chr20:52413541..52418064,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCAS1-1	chr20:52417682-52417857	XLOC_013802
2	lnc-BCAS1-1	chr20:52417665-52418124	NONHSAT080403

No data

Variant related genes	Relation type
ENSG00000257548	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000008405	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11907700	0.90[AFR][1000 genomes]
rs6022753	1.00[ASN][1000 genomes]
rs7269330	1.00[ASN][1000 genomes]
rs7347346	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv586221	chr20:52392390-52418987	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1064299	chr20:52395560-52420612	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
7	nsv1063442	chr20:52400519-52428220	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
8	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52411800-52421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:52412200-52421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:52414000-52421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:52415400-52418600	Enhancers	Fetal Intestine Small	intestine
5	chr20:52415600-52418200	Enhancers	Stomach Mucosa	stomach
6	chr20:52415600-52419000	Enhancers	Fetal Intestine Large	intestine
7	chr20:52416000-52425600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr20:52416400-52418000	Enhancers	Gastric	stomach
9	chr20:52416400-52418400	Flanking Active TSS	HepG2	liver
10	chr20:52416600-52417800	Weak transcription	Esophagus	oesophagus
11	chr20:52416600-52419400	Weak transcription	HMEC	breast
12	chr20:52416800-52418000	Enhancers	Small Intestine	intestine
13	chr20:52417200-52417800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr20:52417200-52417800	Flanking Active TSS	K562	blood
15	chr20:52417200-52418000	Enhancers	Fetal Heart	heart
16	chr20:52417200-52418000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr20:52417200-52418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:52417200-52418200	Flanking Active TSS	A549	lung
19	chr20:52417200-52418400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:52417400-52417800	Enhancers	Liver	Liver
21	chr20:52417400-52418000	Enhancers	Pancreas	Pancrea
22	chr20:52417400-52418600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:52417400-52418800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:52417400-52419000	Enhancers	NHEK	skin
25	chr20:52417400-52420600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:52417600-52418000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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