Variant report

Variant	rs2511469
Chromosome Location	chr11:67910983-67910984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67910431..67914076-chr11:67923227..67925400,4	K562	blood:
2	chr11:67910888..67913009-chr7:6675598..6677848,2	MCF-7	breast:
3	chr11:67909537..67912529-chr11:67915738..67917856,2	K562	blood:
4	chr11:67887330..67890374-chr11:67908714..67912582,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205903	Chromatin interaction
ENSG00000255236	Chromatin interaction
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10791956	0.87[EUR][1000 genomes]
rs10791957	0.92[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs10791959	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10896293	0.91[EUR][1000 genomes]
rs10896295	0.88[CEU][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896298	0.80[JPT][hapmap]
rs11228131	0.89[JPT][hapmap]
rs11228133	0.83[EUR][1000 genomes]
rs11228139	0.93[CEU][hapmap]
rs11228142	0.93[CEU][hapmap]
rs11228144	0.82[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11228145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11535788	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1894204	0.80[JPT][hapmap]
rs2457179	0.92[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs2457180	0.88[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap]
rs2511437	0.89[JPT][hapmap]
rs2511467	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511468	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511470	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511473	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511475	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511478	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511479	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512608	0.88[EUR][1000 genomes]
rs2512611	0.92[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs2512612	0.92[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs2512623	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512624	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133327	0.89[JPT][hapmap]
rs3935460	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes]
rs4073551	0.92[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs4930228	0.86[ASN][1000 genomes]
rs4930557	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4930561	0.80[JPT][hapmap]
rs61890478	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6591331	0.90[JPT][hapmap]
rs6591333	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7104982	0.86[EUR][1000 genomes]
rs7123183	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7123668	0.87[EUR][1000 genomes]
rs7124058	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71480230	0.81[EUR][1000 genomes]
rs7925022	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7925423	0.86[EUR][1000 genomes]
rs7928739	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs7931502	0.80[JPT][hapmap]
rs7940113	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7940217	0.87[EUR][1000 genomes]
rs7940501	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7944372	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67899000-67912200	Weak transcription	Hela-S3	cervix
2	chr11:67906000-67912600	Weak transcription	Ovary	ovary
3	chr11:67906000-67912800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:67906000-67912800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:67906400-67912200	Weak transcription	A549	lung
6	chr11:67907200-67911000	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:67907400-67911000	Enhancers	Pancreas	Pancrea
8	chr11:67908000-67911000	Enhancers	HepG2	liver
9	chr11:67908200-67912200	Weak transcription	K562	blood
10	chr11:67908400-67912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:67908400-67912400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:67908400-67912600	Weak transcription	Fetal Heart	heart
13	chr11:67908800-67912600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:67908800-67914000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:67909000-67913800	Weak transcription	Fetal Lung	lung
16	chr11:67909600-67913200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:67909600-67913600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:67909600-67913800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:67909800-67913600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:67909800-67913800	Weak transcription	Brain Anterior Caudate	brain
21	chr11:67910000-67911000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:67910000-67912600	Weak transcription	Left Ventricle	heart
23	chr11:67910000-67913200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:67910000-67913800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:67910000-67913800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:67910000-67914200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:67910000-67914400	Weak transcription	HSMMtube	muscle
28	chr11:67910000-67918000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:67910000-67921200	Weak transcription	Primary B cells from cord blood	blood
30	chr11:67910200-67912000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:67910200-67912000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:67910200-67912600	Weak transcription	Right Ventricle	heart
33	chr11:67910200-67913600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:67910200-67913800	Weak transcription	Colonic Mucosa	Colon
35	chr11:67910400-67911000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:67910400-67911200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:67910400-67912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:67910400-67912600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:67910400-67913800	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:67910400-67913800	Weak transcription	HMEC	breast
41	chr11:67910600-67911600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:67910600-67912200	Weak transcription	Spleen	Spleen
43	chr11:67910800-67912200	Weak transcription	Liver	Liver
44	chr11:67910800-67912200	Weak transcription	Gastric	stomach
45	chr11:67910800-67912200	Weak transcription	Stomach Mucosa	stomach
46	chr11:67910800-67912400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:67910800-67912600	Weak transcription	Lung	lung
48	chr11:67910800-67913200	Weak transcription	Esophagus	oesophagus
49	chr11:67910800-67922600	Weak transcription	Fetal Thymus	thymus

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