Variant report

Variant	rs34430931
Chromosome Location	chr1:222961122-222961123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222959012..222961255-chr1:222964820..222967601,2	K562	blood:
2	chr1:222959352..222961255-chr1:222964566..222966320,2	K562	blood:
3	chr1:222932221..222934925-chr1:222959124..222961923,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11490204	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11490205	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17163484	0.94[ASN][1000 genomes]
rs17474556	0.80[ASN][1000 genomes]
rs17474745	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17533651	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17533810	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17533873	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378602	0.92[ASN][1000 genomes]
rs2889937	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2889940	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34251271	0.94[ASN][1000 genomes]
rs34494528	0.95[ASN][1000 genomes]
rs34643154	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34687048	0.92[ASN][1000 genomes]
rs34807177	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35292789	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35325797	0.92[ASN][1000 genomes]
rs35472374	0.92[ASN][1000 genomes]
rs35554894	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35651802	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35840203	0.92[ASN][1000 genomes]
rs35976854	0.95[ASN][1000 genomes]
rs3922772	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4011743	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264001	0.94[ASN][1000 genomes]
rs4303078	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4322239	0.92[ASN][1000 genomes]
rs4424514	0.94[ASN][1000 genomes]
rs4472762	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4480364	0.93[ASN][1000 genomes]
rs4562632	0.95[ASN][1000 genomes]
rs4846387	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826464	0.92[ASN][1000 genomes]
rs61826465	0.92[ASN][1000 genomes]
rs61826467	0.92[ASN][1000 genomes]
rs61826474	0.94[ASN][1000 genomes]
rs61837141	0.94[ASN][1000 genomes]
rs61837143	0.94[ASN][1000 genomes]
rs61837144	0.87[ASN][1000 genomes]
rs61837147	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222948200-222961600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:222957400-222961600	Enhancers	Fetal Lung	lung
4	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:222959000-222962200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:222959600-222962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:222959800-222961400	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:222959800-222966400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:222960000-222961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:222960000-222964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach
12	chr1:222960200-222964200	Weak transcription	HUVEC	blood vessel
13	chr1:222960400-222961400	Weak transcription	Hela-S3	cervix
14	chr1:222960400-222964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:222960600-222964000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:222960600-222964400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:222960800-222962200	Enhancers	HSMMtube	muscle
18	chr1:222960800-222962600	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:222961000-222961400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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