Variant report

Variant	rs10248263
Chromosome Location	chr7:120164393-120164394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10227379	1.00[ASN][1000 genomes]
rs10234674	0.95[ASN][1000 genomes]
rs10244347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257622	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259436	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10260490	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268591	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273242	0.84[AFR][1000 genomes]
rs10488302	1.00[ASN][1000 genomes]
rs1609181	1.00[ASN][1000 genomes]
rs17142782	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454884	1.00[ASN][1000 genomes]
rs6950392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970111	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6970412	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886214	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv889116	chr7:120098304-120180671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120160600-120164600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:120162400-120165600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:120162400-120180600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:120162600-120165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:120163000-120165400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:120163200-120165200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:120163200-120165800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:120163200-120167400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:120163400-120164600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:120163400-120164800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:120163400-120165000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:120163800-120165200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:120163800-120165800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:120163800-120167400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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