Variant report

Variant	rs71422401
Chromosome Location	chr2:64254165-64254166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64253837..64255979-chr2:64263941..64266708,2	K562	blood:
2	chr2:64252726..64254533-chr2:64259258..64261543,2	K562	blood:
3	chr2:64244419..64248447-chr2:64249482..64256147,6	MCF-7	breast:
4	chr2:64251335..64255008-chr2:64255786..64259305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13032357	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17701941	0.83[ASN][1000 genomes]
rs17752868	0.83[ASN][1000 genomes]
rs34737670	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71422399	0.83[EUR][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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247200-64254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:64249000-64256200	Weak transcription	NHDF-Ad	bronchial
4	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:64251400-64255800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:64251400-64256600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:64251400-64256600	Weak transcription	Stomach Mucosa	stomach
8	chr2:64252000-64254600	Enhancers	HepG2	liver
9	chr2:64252400-64254200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:64253000-64254200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:64253000-64254600	Enhancers	GM12878-XiMat	blood
12	chr2:64253800-64254200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:64253800-64254400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:64253800-64254400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:64253800-64254600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:64253800-64254600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:64254000-64254200	Enhancers	Liver	Liver
18	chr2:64254000-64254200	Enhancers	Fetal Thymus	thymus
19	chr2:64254000-64254400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:64254000-64254400	Enhancers	K562	blood
21	chr2:64254000-64258000	Enhancers	HUES48 Cell Line	embryonic stem cell

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