Variant report

Variant	rs7514515
Chromosome Location	chr1:150517312-150517313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:150517290-150517490	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150516867..150518904-chr1:150586096..150587673,2	K562	blood:
2	chr1:150484156..150491994-chr1:150515065..150519964,11	K562	blood:
3	chr1:150457373..150462421-chr1:150516063..150519767,6	K562	blood:
4	chr1:150505847..150507541-chr1:150516377..150518436,3	K562	blood:
5	chr1:150513813..150518269-chr1:150520912..150524275,6	MCF-7	breast:
6	chr1:150516666..150518845-chr1:150947087..150948952,2	K562	blood:
7	chr1:150206873..150208966-chr1:150516396..150518033,2	K562	blood:
8	chr1:150498015..150500360-chr1:150515129..150517476,2	K562	blood:
9	chr1:150484156..150487563-chr1:150516278..150519964,6	K562	blood:
10	chr1:150405436..150407762-chr1:150516210..150518329,2	K562	blood:
11	chr1:150487766..150489360-chr1:150516927..150518572,2	K562	blood:
12	chr1:150503285..150505539-chr1:150516605..150518473,3	K562	blood:
13	chr1:150509600..150512584-chr1:150516373..150518037,3	K562	blood:
14	chr1:150515888..150518582-chr1:150592348..150594421,3	K562	blood:
15	chr1:150492880..150495279-chr1:150516728..150518247,2	K562	blood:
16	chr1:150516324..150518582-chr1:150592815..150594421,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL4-4	chr1:150517238-150520797	NONHSAT006304

No data

Variant related genes	Relation type
ENSG00000225996	TF binding region
ADAMTSL4	TF binding region
ENSG00000143374	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11810419	0.81[ASN][1000 genomes]
rs1980062	0.81[ASN][1000 genomes]
rs58585637	0.83[ASN][1000 genomes]
rs61684558	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6657478	0.83[ASN][1000 genomes]
rs6663989	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:150511000-150518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:150511200-150521000	Weak transcription	A549	lung
5	chr1:150511400-150520800	Weak transcription	Hela-S3	cervix
6	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
7	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:150511800-150518000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:150512000-150517600	Weak transcription	Placenta	Placenta
10	chr1:150515200-150521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:150516000-150517600	Enhancers	K562	blood
12	chr1:150516400-150521000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:150516400-150521000	Weak transcription	Right Atrium	heart
14	chr1:150516600-150518000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:150516600-150518400	Enhancers	HepG2	liver
16	chr1:150516600-150520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:150516600-150521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:150516600-150521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:150516600-150521000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:150516600-150521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:150516600-150521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:150516800-150518000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:150517000-150518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:150517000-150518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:150517000-150520800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:150517000-150521000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:150517000-150521000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:150517000-150521000	Weak transcription	Liver	Liver
29	chr1:150517000-150521000	Weak transcription	HSMM	muscle
30	chr1:150517000-150521000	Weak transcription	HSMMtube	muscle
31	chr1:150517200-150520800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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