Variant report

Variant	rs60676251
Chromosome Location	chr7:126339173-126339174
allele	C/T
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

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

No.	Distal block	Cell Line	Cell type
1	chr7:126327351..126329606-chr7:126337755..126339407,2	K562	blood:
2	chr7:126313732..126316152-chr7:126338313..126341209,2	K562	blood:
3	chr7:126318252..126320938-chr7:126337348..126339547,3	K562	blood:
4	chr7:126309021..126312996-chr7:126337447..126339848,3	K562	blood:
5	chr7:126337265..126339812-chr7:126345257..126346866,2	K562	blood:
6	chr7:126338487..126341370-chr7:126368124..126371050,2	K562	blood:
7	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10224336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225708	1.00[ASN][1000 genomes]
rs10240139	1.00[ASN][1000 genomes]
rs10279616	0.92[AFR][1000 genomes]
rs11974803	1.00[EUR][1000 genomes]
rs17149911	1.00[EUR][1000 genomes]
rs2299455	1.00[EUR][1000 genomes]
rs35009695	0.89[AFR][1000 genomes]
rs3808152	0.92[AFR][1000 genomes]
rs4728048	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57281612	1.00[EUR][1000 genomes]
rs58516151	1.00[EUR][1000 genomes]
rs61347840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514376	1.00[EUR][1000 genomes]
rs6942895	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126336400-126342800	Enhancers	NHEK	skin
2	chr7:126337400-126340800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:126337800-126342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:126337800-126342000	Enhancers	HMEC	breast
5	chr7:126337800-126342600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:126338000-126339600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:126338000-126339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:126338000-126342000	Enhancers	Hela-S3	cervix
9	chr7:126338200-126339400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:126338600-126340400	Enhancers	K562	blood
11	chr7:126338800-126341000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:126339000-126339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:126339000-126339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:126339000-126339400	Weak transcription	HUVEC	blood vessel
15	chr7:126339000-126339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:126339000-126340000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:126339000-126340800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:126339000-126341000	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:126339000-126341600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:126339000-126342600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:126339000-126342600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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