Variant report

Variant	rs6952886
Chromosome Location	chr7:128071444-128071445
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
2	chr7:128070575..128071502-chr7:128097598..128098175,2	MCF-7	breast:
3	chr7:128063888..128067571-chr7:128068051..128071487,5	MCF-7	breast:
4	chr7:127983568..127985424-chr7:128070553..128072518,2	MCF-7	breast:
5	chr7:128070900..128073511-chr7:128092438..128094017,2	K562	blood:
6	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
7	chr7:128070428..128073149-chr7:128099474..128101225,2	K562	blood:
8	chr7:128069925..128072742-chr7:128169613..128171808,2	MCF-7	breast:
9	chr7:128070340..128071535-chr7:128097931..128098830,5	MCF-7	breast:
10	chr7:128070995..128071668-chr7:128083750..128084763,3	MCF-7	breast:
11	chr7:128057754..128060004-chr7:128069977..128072102,2	MCF-7	breast:
12	chr7:128070980..128072864-chr7:128528001..128529942,2	MCF-7	breast:
13	chr7:128070107..128071811-chr7:128083532..128085111,2	MCF-7	breast:
14	chr7:128068005..128069894-chr7:128069936..128071619,3	MCF-7	breast:
15	chr7:128071113..128071837-chr7:128083898..128084672,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273270	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1014506	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056633	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17152072	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1864233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288553	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28364722	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4236626	0.81[EUR][1000 genomes]
rs4552841	0.86[AMR][1000 genomes]
rs4728109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731447	0.84[AMR][1000 genomes]
rs4731456	0.84[AMR][1000 genomes]
rs4731457	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731458	0.96[AMR][1000 genomes]
rs4731470	0.86[AMR][1000 genomes]
rs4731471	0.86[AMR][1000 genomes]
rs5018787	0.81[AMR][1000 genomes]
rs61192768	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61556684	0.96[AMR][1000 genomes]
rs72624969	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128063000-128071600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128070200-128074800	Enhancers	Placenta	Placenta
4	chr7:128070400-128071600	Enhancers	Esophagus	oesophagus
5	chr7:128070400-128072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:128070600-128071600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:128070600-128071800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:128070600-128072200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128070600-128072400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:128070600-128073200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:128070800-128071800	Enhancers	Adipose Nuclei	Adipose
12	chr7:128071000-128071600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:128071000-128071600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr7:128071000-128071800	Enhancers	Stomach Mucosa	stomach
15	chr7:128071000-128072000	Flanking Active TSS	A549	lung
16	chr7:128071000-128072600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:128071200-128071600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:128071200-128071600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:128071200-128071800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128071200-128074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:128071400-128071800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:128071400-128071800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr7:128071400-128072000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:128071400-128072600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128071400-128072600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:128071400-128073000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:128071400-128073000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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