Variant report

Variant	rs35422863
Chromosome Location	chr2:40770839-40770840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12989012	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992540	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992598	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13001437	0.89[EUR][1000 genomes]
rs13003735	0.89[EUR][1000 genomes]
rs13018810	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13019175	0.89[EUR][1000 genomes]
rs13019183	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13019201	0.89[EUR][1000 genomes]
rs13034467	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17026128	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34106653	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34446865	0.89[EUR][1000 genomes]
rs34466654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34802220	0.89[EUR][1000 genomes]
rs34875537	0.95[ASN][1000 genomes]
rs34895858	0.89[EUR][1000 genomes]
rs35951633	0.94[ASN][1000 genomes]
rs57007180	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60794473	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61356646	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61702121	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62149456	0.94[ASN][1000 genomes]
rs62149458	0.94[ASN][1000 genomes]
rs67526252	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71441105	0.89[EUR][1000 genomes]
rs71441111	0.93[ASN][1000 genomes]
rs71441112	0.93[ASN][1000 genomes]
rs7561779	0.94[ASN][1000 genomes]
rs765190	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3460444	chr2:40764798-40772027	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	esv3460445	chr2:40764798-40772027	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40757800-40774800	Weak transcription	Small Intestine	intestine
2	chr2:40767800-40774200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:40768600-40771000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:40768800-40778800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:40770000-40771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:40770200-40771000	Enhancers	Fetal Heart	heart
7	chr2:40770400-40771400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:40770400-40772600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:40770600-40772000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:40770600-40772000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:40770600-40772600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:40770800-40771200	Weak transcription	H1 Cell Line	embryonic stem cell

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