Variant report

Variant	rs2511473
Chromosome Location	chr11:67908986-67908987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67900826..67903495-chr11:67908727..67910811,2	K562	blood:
2	chr11:67908238..67910865-chr11:67914661..67917297,2	MCF-7	breast:
3	chr11:67887330..67890374-chr11:67908714..67912582,4	MCF-7	breast:
4	chr11:67905446..67906949-chr11:67908407..67910664,2	MCF-7	breast:
5	chr11:67893937..67896005-chr11:67908113..67910467,2	MCF-7	breast:
6	chr11:67900826..67903728-chr11:67908566..67910811,2	K562	blood:
7	chr11:67894406..67897015-chr11:67908475..67910662,2	K562	blood:
8	chr11:67907520..67909318-chr11:67911352..67914031,2	K562	blood:
9	chr11:67894876..67897320-chr11:67906822..67909405,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110721	Chromatin interaction
ENSG00000255236	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10896295	0.86[ASN][1000 genomes]
rs11228144	0.90[ASN][1000 genomes]
rs11228145	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511467	0.88[ASN][1000 genomes]
rs2511468	0.92[ASN][1000 genomes]
rs2511469	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511470	0.93[ASN][1000 genomes]
rs2511472	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511475	0.93[ASN][1000 genomes]
rs2511478	0.88[ASN][1000 genomes]
rs2511479	0.87[ASN][1000 genomes]
rs2512623	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512624	0.93[ASN][1000 genomes]
rs4930228	0.84[ASN][1000 genomes]
rs6591333	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7124058	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7940113	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7940501	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7944372	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67899000-67912200	Weak transcription	Hela-S3	cervix
2	chr11:67905800-67909400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:67906000-67912600	Weak transcription	Ovary	ovary
4	chr11:67906000-67912800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:67906000-67912800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:67906400-67912200	Weak transcription	A549	lung
7	chr11:67907200-67911000	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:67907400-67911000	Enhancers	Pancreas	Pancrea
9	chr11:67907600-67909600	Enhancers	Brain Substantia Nigra	brain
10	chr11:67907600-67910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:67907800-67909000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr11:67907800-67909000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:67907800-67909200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:67907800-67909800	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:67907800-67910000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:67907800-67910400	Enhancers	Brain Hippocampus Middle	brain
17	chr11:67908000-67909600	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:67908000-67909800	Enhancers	Brain Anterior Caudate	brain
19	chr11:67908000-67910000	Enhancers	Brain Angular Gyrus	brain
20	chr11:67908000-67910000	Enhancers	Brain Germinal Matrix	brain
21	chr11:67908000-67910000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:67908000-67910200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:67908000-67910200	Enhancers	Right Ventricle	heart
24	chr11:67908000-67910800	Enhancers	Stomach Mucosa	stomach
25	chr11:67908000-67911000	Enhancers	HepG2	liver
26	chr11:67908200-67909000	Enhancers	Fetal Brain Male	brain
27	chr11:67908200-67909400	Enhancers	Fetal Muscle Leg	muscle
28	chr11:67908200-67910000	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:67908200-67910000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr11:67908200-67910000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:67908200-67910200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr11:67908200-67910400	Enhancers	Thymus	Thymus
33	chr11:67908200-67910800	Enhancers	Liver	Liver
34	chr11:67908200-67910800	Enhancers	Fetal Thymus	thymus
35	chr11:67908200-67910800	Enhancers	Gastric	stomach
36	chr11:67908200-67910800	Enhancers	Dnd41	blood
37	chr11:67908200-67912200	Weak transcription	K562	blood
38	chr11:67908400-67909000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:67908400-67909400	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:67908400-67912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:67908400-67912400	Weak transcription	Fetal Intestine Small	intestine
42	chr11:67908400-67912600	Weak transcription	Fetal Heart	heart
43	chr11:67908600-67909000	Enhancers	Fetal Lung	lung
44	chr11:67908600-67909200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:67908600-67909400	Weak transcription	Fetal Brain Female	brain
46	chr11:67908600-67909600	Enhancers	Adipose Nuclei	Adipose
47	chr11:67908600-67910000	Enhancers	Primary B cells from cord blood	blood
48	chr11:67908600-67910000	Enhancers	Left Ventricle	heart
49	chr11:67908600-67910400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:67908600-67910600	Enhancers	Spleen	Spleen

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