Variant report

Variant	rs57737965
Chromosome Location	chr1:212442711-212442712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212441608..212446276-chr1:212456741..212460393,6	K562	blood:
2	chr1:212441608..212446512-chr1:212456741..212460903,9	K562	blood:
3	chr1:212439869..212442717-chr1:212444447..212446810,3	K562	blood:
4	chr1:212441943..212444225-chr1:212782001..212784158,2	K562	blood:
5	chr1:212433580..212437066-chr1:212438671..212444004,6	K562	blood:
6	chr1:212439329..212443402-chr1:212456167..212459238,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11119889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs12060363	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12076639	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082507	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087923	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090051	0.87[EUR][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	0.86[EUR][1000 genomes]
rs17042040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	0.86[EUR][1000 genomes]
rs376547	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs66522154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67947916	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752328	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752361	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	esv3404278	chr1:212442498-212442977	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212435200-212445600	Weak transcription	Right Atrium	heart
2	chr1:212435400-212444600	Weak transcription	Stomach Mucosa	stomach
3	chr1:212435600-212444400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:212435800-212444800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:212442400-212443600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:212442600-212442800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:212442600-212443000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:212442600-212443200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:212442600-212446200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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