Variant report

Variant	rs4951596
Chromosome Location	chr1:212597450-212597451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212587042..212589735-chr1:212595320..212598390,3	K562	blood:
2	chr1:212596005..212598294-chr1:212604607..212607533,3	K562	blood:
3	chr1:212586068..212589707-chr1:212596960..212598959,3	MCF-7	breast:
4	chr1:212596755..212599311-chr1:212603910..212605843,2	MCF-7	breast:
5	chr1:212593797..212595610-chr1:212596554..212598551,2	K562	blood:

Variant related genes	Relation type
ENSG00000117691	Chromatin interaction
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10863965	1.00[ASN][1000 genomes]
rs11119927	0.87[ASN][1000 genomes]
rs11119932	1.00[ASN][1000 genomes]
rs11119934	1.00[ASN][1000 genomes]
rs11119936	0.81[ASN][1000 genomes]
rs12024457	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12031941	0.90[ASN][1000 genomes]
rs12033979	0.98[ASN][1000 genomes]
rs12119779	0.87[ASN][1000 genomes]
rs12124065	1.00[AFR][1000 genomes]
rs12133134	1.00[AFR][1000 genomes]
rs12133582	1.00[ASN][1000 genomes]
rs12141427	0.87[ASN][1000 genomes]
rs12239580	0.93[ASN][1000 genomes]
rs12403586	0.93[ASN][1000 genomes]
rs1388033	1.00[ASN][1000 genomes]
rs1388034	1.00[ASN][1000 genomes]
rs17019129	0.85[AMR][1000 genomes]
rs1808986	0.87[ASN][1000 genomes]
rs2166155	0.92[ASN][1000 genomes]
rs3754142	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3754144	1.00[ASN][1000 genomes]
rs3767867	0.86[ASN][1000 genomes]
rs3767868	1.00[ASN][1000 genomes]
rs3767870	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3820513	0.93[ASN][1000 genomes]
rs4338424	1.00[ASN][1000 genomes]
rs4548507	0.87[ASN][1000 genomes]
rs4951597	1.00[ASN][1000 genomes]
rs74138154	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212591000-212605600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212591400-212597800	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:212595200-212598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:212595400-212597600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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