Variant report

Variant	rs7514869
Chromosome Location	chr1:220056396-220056397
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220048650..220051363-chr1:220053198..220059066,6	K562	blood:
2	chr1:220054905..220056762-chr1:220096226..220098573,2	K562	blood:
3	chr1:220056357..220058646-chr1:220078386..220080543,2	K562	blood:
4	chr1:220054185..220056883-chr1:220111054..220113259,2	K562	blood:
5	chr1:220056225..220058180-chr1:220059172..220061720,2	K562	blood:
6	chr1:220054853..220057199-chr1:220071287..220073274,2	K562	blood:
7	chr1:220056161..220057973-chr1:220075222..220077127,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10495140	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059389	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535892	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220045000-220057200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220053800-220057600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:220054000-220056600	Enhancers	Liver	Liver
4	chr1:220054400-220057200	Enhancers	HepG2	liver
5	chr1:220054600-220057000	Enhancers	K562	blood
6	chr1:220055000-220056800	Enhancers	Small Intestine	intestine
7	chr1:220055200-220057600	Enhancers	Fetal Intestine Large	intestine
8	chr1:220055200-220057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:220055600-220056400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:220055600-220056600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:220055600-220056800	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:220055600-220057600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:220055800-220056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:220056000-220056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:220056000-220056800	Enhancers	Brain Substantia Nigra	brain
16	chr1:220056200-220057400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:220056200-220057600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220056200-220058000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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