Variant report

Variant	rs12294207
Chromosome Location	chr11:64338586-64338587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64334089..64335656-chr11:64337770..64339283,2	K562	blood:
2	chr11:64334156..64335770-chr11:64337336..64339283,2	K562	blood:

Variant related genes	Relation type
ENSG00000168065	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10751010	1.00[MEX][hapmap]
rs10751011	1.00[MEX][hapmap]
rs11231865	1.00[MEX][hapmap]
rs11821081	1.00[MEX][hapmap]
rs1207462	1.00[MEX][hapmap]
rs1212851	1.00[MEX][hapmap]
rs12272267	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12287654	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293272	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146085	0.82[AMR][1000 genomes]
rs17146088	0.82[AMR][1000 genomes]
rs17146119	1.00[MEX][hapmap]
rs17159320	0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159321	0.87[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240690	1.00[MEX][hapmap]
rs2666561	1.00[MEX][hapmap]
rs470348	1.00[MEX][hapmap]
rs475704	1.00[MEX][hapmap]
rs497544	1.00[MEX][hapmap]
rs512926	1.00[MEX][hapmap]
rs519106	1.00[MEX][hapmap]
rs534052	1.00[MEX][hapmap]
rs535606	1.00[MEX][hapmap]
rs545819	1.00[MEX][hapmap]
rs547280	1.00[MEX][hapmap]
rs550930	1.00[MEX][hapmap]
rs553618	1.00[MEX][hapmap]
rs558073	1.00[MEX][hapmap]
rs605597	1.00[MEX][hapmap]
rs7123003	1.00[MEX][hapmap]
rs73490297	0.88[AMR][1000 genomes]
rs73490299	0.88[AMR][1000 genomes]
rs7937450	0.88[AMR][1000 genomes]
rs7940713	0.88[AMR][1000 genomes]
rs7948607	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64334600-64348000	Weak transcription	Fetal Brain Male	brain
2	chr11:64334800-64338600	Weak transcription	NHEK	skin
3	chr11:64334800-64338800	Weak transcription	K562	blood
4	chr11:64334800-64339200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:64334800-64339200	Weak transcription	Esophagus	oesophagus
6	chr11:64334800-64339400	Weak transcription	Fetal Intestine Large	intestine
7	chr11:64335000-64338600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:64335000-64339000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:64335000-64339400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:64335000-64347800	Weak transcription	Pancreas	Pancrea
11	chr11:64335200-64339000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:64335200-64339200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:64335400-64338800	Weak transcription	HepG2	liver
14	chr11:64335800-64339400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:64336000-64338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:64336000-64340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:64336400-64339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:64336400-64339200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:64337200-64343800	Weak transcription	Spleen	Spleen
20	chr11:64337400-64338600	Weak transcription	Placenta	Placenta
21	chr11:64338200-64338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:64338200-64339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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