Variant report

Variant	rs7594866
Chromosome Location	chr2:145104408-145104409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145095861..145099099-chr2:145102437..145105333,3	K562	blood:
2	chr2:145088154..145093007-chr2:145104378..145110887,6	K562	blood:
3	chr2:145098484..145104754-chr2:145115322..145118409,5	K562	blood:
4	chr2:145091353..145093709-chr2:145104378..145106961,3	K562	blood:

Variant related genes	Relation type
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10194389	0.93[YRI][hapmap]
rs10194888	0.82[AFR][1000 genomes]
rs11884223	0.88[YRI][hapmap]
rs13411155	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs13412436	0.93[YRI][hapmap]
rs13415613	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13422361	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs13426801	0.93[YRI][hapmap]
rs28590276	0.81[AFR][1000 genomes]
rs28825442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430053	0.89[YRI][hapmap]
rs6717975	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs6719334	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7559941	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7562623	0.93[YRI][hapmap]
rs7571365	0.94[YRI][hapmap]
rs7597335	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7604808	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145090800-145106400	Weak transcription	Fetal Stomach	stomach
2	chr2:145091600-145105600	Weak transcription	Fetal Heart	heart
3	chr2:145101000-145106400	Weak transcription	HUVEC	blood vessel
4	chr2:145102400-145105200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr2:145103400-145104600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:145103400-145104800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:145103400-145107200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:145103600-145105000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:145103600-145107200	Enhancers	K562	blood
10	chr2:145103600-145110200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:145104000-145104600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:145104200-145104600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:145104200-145104800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:145104200-145105000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:145104200-145105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:145104200-145107200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:145104200-145107200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:145104200-145107400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:145104200-145109600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:145104400-145104800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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