Variant report

Variant	rs11234552
Chromosome Location	chr11:85846187-85846188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85834004..85837097-chr11:85843362..85846409,3	K562	blood:
2	chr11:85843188..85847457-chr11:85851977..85855853,7	K562	blood:
3	chr11:85778747..85782250-chr11:85844102..85847202,4	K562	blood:
4	chr11:85838134..85840505-chr11:85845229..85848211,2	K562	blood:
5	chr11:85844772..85849892-chr11:85856973..85861809,6	K562	blood:
6	chr11:85834930..85836499-chr11:85844067..85846409,2	K562	blood:
7	chr11:85845930..85847808-chr11:85868487..85870881,2	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10792829	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs10898433	0.81[JPT][hapmap]
rs10898436	0.93[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898441	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234532	0.81[JPT][hapmap]
rs11234542	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11234545	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs11234551	0.85[ASN][1000 genomes]
rs11234562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1513389	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17209931	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17817153	0.81[JPT][hapmap]
rs4944558	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7480193	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85838200-85846800	Weak transcription	Placenta	Placenta
2	chr11:85840000-85847200	Weak transcription	Ovary	ovary
3	chr11:85843600-85848200	Enhancers	Fetal Intestine Large	intestine
4	chr11:85843800-85846800	Enhancers	HepG2	liver
5	chr11:85843800-85848200	Enhancers	Fetal Intestine Small	intestine
6	chr11:85844400-85846600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:85845000-85846200	Weak transcription	Small Intestine	intestine
8	chr11:85845000-85847600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:85845200-85846600	Flanking Active TSS	K562	blood
10	chr11:85845200-85858600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:85845400-85846800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:85845400-85848000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:85845400-85849400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:85845600-85846200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:85845600-85846400	Enhancers	Liver	Liver
16	chr11:85845600-85846400	Enhancers	Pancreas	Pancrea
17	chr11:85845600-85846400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:85845600-85846400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:85845600-85846800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:85845600-85847200	Enhancers	Brain Hippocampus Middle	brain
21	chr11:85845600-85847400	Enhancers	Stomach Mucosa	stomach
22	chr11:85845600-85847600	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:85845600-85848000	Enhancers	Brain Angular Gyrus	brain
24	chr11:85845600-85848000	Enhancers	Brain Anterior Caudate	brain
25	chr11:85845600-85848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:85845800-85846200	Weak transcription	Psoas Muscle	Psoas
27	chr11:85845800-85846600	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:85845800-85846600	Enhancers	Adipose Nuclei	Adipose
29	chr11:85845800-85848000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:85845800-85859800	Weak transcription	Aorta	Aorta
31	chr11:85846000-85846200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:85846000-85846600	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:85846000-85846600	Enhancers	Osteobl	bone
34	chr11:85846000-85848000	Enhancers	Brain Substantia Nigra	brain
35	chr11:85846000-85851600	Weak transcription	Right Atrium	heart

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