Variant report

Variant	rs7124619
Chromosome Location	chr11:8982712-8982713
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8706753..8709894-chr11:8978976..8982993,5	K562	blood:
2	chr11:8981281..8983336-chr11:9009757..9012558,2	K562	blood:
3	chr11:8981190..8983280-chr11:8983909..8986637,3	MCF-7	breast:
4	chr11:8977155..8979531-chr11:8982227..8985372,3	MCF-7	breast:
5	chr11:8659357..8661041-chr11:8981138..8982951,2	K562	blood:
6	chr11:8980645..8982852-chr11:8983601..8986780,3	K562	blood:
7	chr11:8980645..8983033-chr11:8983601..8987670,5	K562	blood:
8	chr11:8981631..8983476-chr11:9112206..9113841,2	MCF-7	breast:
9	chr11:8981088..8982840-chr11:9088115..9091017,2	K562	blood:
10	chr11:8979873..8982866-chr11:8983729..8987375,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212607	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000254860	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11042134	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs16906160	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs16906250	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2003885	1.00[AMR][1000 genomes]
rs2568038	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2742524	1.00[AMR][1000 genomes]
rs60867981	1.00[AMR][1000 genomes]
rs7101895	0.85[YRI][hapmap]
rs7111092	0.84[YRI][hapmap]
rs7126651	1.00[AMR][1000 genomes]
rs74052371	1.00[AMR][1000 genomes]
rs7952562	0.92[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:8966400-8984000	Weak transcription	Fetal Brain Male	brain
6	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:8970600-8984400	Weak transcription	Right Ventricle	heart
8	chr11:8970600-8985000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:8970800-8984400	Weak transcription	A549	lung
10	chr11:8971200-8984400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:8972200-8982800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:8972800-8984200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:8973600-8985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:8974800-8984000	Weak transcription	HepG2	liver
15	chr11:8974800-8984400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:8976200-8984000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:8977400-8984800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8977600-8982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:8977600-8984200	Weak transcription	Brain Germinal Matrix	brain
20	chr11:8977600-8985000	Weak transcription	Esophagus	oesophagus
21	chr11:8977600-8985000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:8977800-8984000	Weak transcription	Dnd41	blood
23	chr11:8977800-8984200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:8977800-8984200	Weak transcription	Fetal Brain Female	brain
25	chr11:8977800-8984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:8977800-8984400	Weak transcription	Fetal Thymus	thymus
27	chr11:8978000-8982800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:8978000-8983000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:8978000-8983400	Weak transcription	Primary T cells from cord blood	blood
30	chr11:8978000-8983400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:8978000-8984200	Weak transcription	Thymus	Thymus
32	chr11:8978000-8984400	Weak transcription	Spleen	Spleen
33	chr11:8978000-8985000	Weak transcription	Gastric	stomach
34	chr11:8978000-8985000	Weak transcription	Lung	lung
35	chr11:8978200-8983000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:8978200-8984200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:8978600-8984000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:8978600-8984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:8978800-8982800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:8978800-8983400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:8978800-8984000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:8978800-8984600	Weak transcription	Placenta	Placenta
43	chr11:8979000-8984200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:8979200-8984200	Weak transcription	Primary B cells from cord blood	blood
45	chr11:8979200-8984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:8979400-8984200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:8979400-8984400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:8981000-8983000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:8981000-8984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:8981000-8984200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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