Variant report

Variant	rs35264472
Chromosome Location	chr1:223017119-223017120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11485186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11486081	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163517	0.83[ASN][1000 genomes]
rs34331188	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35970216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36054388	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71644707	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	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
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
4	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:223007200-223017200	Weak transcription	Fetal Lung	lung
6	chr1:223007800-223017400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:223013600-223030800	Weak transcription	Ovary	ovary
9	chr1:223015800-223017400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:223016000-223017400	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:223016000-223018400	Enhancers	Stomach Mucosa	stomach
12	chr1:223016200-223017600	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:223016400-223018200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:223016800-223017200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:223016800-223017400	Enhancers	Liver	Liver
16	chr1:223016800-223017400	Enhancers	Fetal Intestine Large	intestine
17	chr1:223016800-223017400	Enhancers	Fetal Intestine Small	intestine
18	chr1:223016800-223017400	Enhancers	HepG2	liver
19	chr1:223016800-223018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:223016800-223018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:223016800-223018400	Enhancers	A549	lung
22	chr1:223016800-223019400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:223017000-223017200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:223017000-223017200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:223017000-223017400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:223017000-223018200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:223017000-223018200	Enhancers	Fetal Kidney	kidney
28	chr1:223017000-223018400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:223017000-223018600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:223017000-223018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:223017000-223019200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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