Variant report

Variant	rs4507960
Chromosome Location	chr1:196581382-196581383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196577078..196578949-chr1:196580523..196582245,2	K562	blood:

Variant related genes	Relation type
ENSG00000162687	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10754193	1.00[CEU][hapmap]
rs10922065	0.81[GIH][hapmap]
rs12075206	0.81[GIH][hapmap]
rs12127759	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12128003	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12128544	1.00[CEU][hapmap]
rs12130004	1.00[EUR][1000 genomes]
rs12133309	1.00[EUR][1000 genomes]
rs12144939	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs13375443	1.00[CEU][hapmap]
rs13375567	1.00[CEU][hapmap]
rs16840379	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16840419	1.00[CHB][hapmap]
rs16840522	0.86[CHB][hapmap]
rs17573867	1.00[EUR][1000 genomes]
rs2183225	1.00[CEU][hapmap]
rs2335906	1.00[CEU][hapmap]
rs34683486	1.00[EUR][1000 genomes]
rs35229136	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35836460	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4314834	1.00[CEU][hapmap]
rs4515738	1.00[CEU][hapmap]
rs4625226	1.00[CEU][hapmap]
rs4658040	1.00[CEU][hapmap]
rs480266	0.94[AMR][1000 genomes]
rs487114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs499807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512900	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs539917	0.94[AMR][1000 genomes]
rs558024	0.94[AMR][1000 genomes]
rs6428350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6428351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663649	1.00[CEU][hapmap]
rs6677604	0.86[CHB][hapmap]
rs6691524	0.83[EUR][1000 genomes]
rs7523548	1.00[EUR][1000 genomes]
rs7533533	1.00[CEU][hapmap]
rs7540922	1.00[CEU][hapmap]
rs7547724	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7551203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs944041	0.82[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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196579000-196581400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:196580000-196581400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:196580200-196581400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:196580400-196581400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:196580600-196581400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:196581000-196581400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:196581000-196581400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:196581000-196581400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:196581200-196581400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:196581200-196581400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:196581200-196581400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:196581200-196581600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:196581200-196582200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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