Variant report

Variant	rs5030331
Chromosome Location	chr11:32409133-32409134
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32407039..32411612-chr11:32452457..32458118,5	K562	blood:
2	chr11:32407611..32410379-chr11:32410899..32412970,3	K562	blood:
3	chr11:32407201..32409874-chr11:32413838..32416426,2	K562	blood:
4	chr11:32408220..32412580-chr11:32413005..32416101,5	K562	blood:
5	chr11:32396138..32399032-chr11:32408436..32411201,2	K562	blood:
6	chr11:32405231..32409162-chr11:32605421..32608022,3	K562	blood:
7	chr11:32407819..32409991-chr11:32606455..32608332,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183242	Chromatin interaction
ENSG00000149100	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs5030267	0.81[AMR][1000 genomes]
rs5030276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907570	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907573	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907575	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907590	1.00[EUR][1000 genomes]
rs72907594	1.00[EUR][1000 genomes]
rs72907595	1.00[EUR][1000 genomes]
rs72907600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr11:32403200-32411800	Weak transcription	Spleen	Spleen
2	chr11:32404000-32411800	Weak transcription	Right Ventricle	heart
3	chr11:32405000-32409400	Strong transcription	Fetal Kidney	kidney
4	chr11:32406000-32412800	Genic enhancers	Dnd41	blood
5	chr11:32406600-32411400	Weak transcription	Ovary	ovary
6	chr11:32407400-32409600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:32407600-32409600	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:32407800-32409200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:32407800-32409400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:32408000-32409400	Enhancers	Colon Smooth Muscle	Colon
11	chr11:32408000-32409800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:32408000-32410200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:32408200-32409400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:32408200-32410000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:32408400-32413000	Enhancers	Fetal Heart	heart
16	chr11:32408600-32413600	Weak transcription	NH-A	brain
17	chr11:32408600-32421600	Weak transcription	Left Ventricle	heart
18	chr11:32408800-32409200	Transcr. at gene 5' and 3'	K562	blood
19	chr11:32408800-32409400	Enhancers	Fetal Stomach	stomach
20	chr11:32408800-32409800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:32408800-32410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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