Variant report

Variant	rs57991096
Chromosome Location	chr11:10756476-10756477
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10756194..10759055-chr11:10771623..10774261,2	K562	blood:
2	chr11:10752675..10754963-chr11:10755463..10757300,2	K562	blood:
3	chr11:10756121..10759478-chr11:10761013..10764437,4	K562	blood:
4	chr11:10702876..10705073-chr11:10754687..10757563,2	K562	blood:
5	chr11:10429637..10431690-chr11:10756328..10758513,2	MCF-7	breast:
6	chr11:10755622..10759318-chr11:10762937..10767532,4	K562	blood:
7	chr11:10678901..10680801-chr11:10754781..10757131,2	MCF-7	breast:
8	chr11:10756270..10758622-chr11:10829204..10831091,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246308	Chromatin interaction
ENSG00000133805	Chromatin interaction
ENSG00000198730	Chromatin interaction
ENSG00000110321	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11821886	1.00[AMR][1000 genomes]
rs11822861	1.00[AMR][1000 genomes]
rs11823290	1.00[AMR][1000 genomes]
rs11827592	1.00[AMR][1000 genomes]
rs2232912	1.00[AMR][1000 genomes]
rs55730838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009251	1.00[AMR][1000 genomes]
rs56161511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056814	1.00[AMR][1000 genomes]
rs58366863	1.00[AMR][1000 genomes]
rs58432384	1.00[AMR][1000 genomes]
rs58560142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59239356	1.00[AMR][1000 genomes]
rs59433293	1.00[AMR][1000 genomes]
rs61997166	1.00[AMR][1000 genomes]
rs73419666	1.00[AMR][1000 genomes]
rs73419669	1.00[AMR][1000 genomes]
rs73419672	1.00[AMR][1000 genomes]
rs73419674	1.00[AMR][1000 genomes]
rs73419676	1.00[AMR][1000 genomes]
rs73419678	1.00[AMR][1000 genomes]
rs73419688	1.00[AMR][1000 genomes]
rs73419698	1.00[AMR][1000 genomes]
rs73419699	1.00[AMR][1000 genomes]
rs73419702	1.00[AMR][1000 genomes]
rs73421505	1.00[AMR][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	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1037639	chr11:10737790-10871809	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10751000-10756800	Weak transcription	Colonic Mucosa	Colon
2	chr11:10751000-10757000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:10751200-10757000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:10751400-10756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:10751400-10757000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:10751800-10757000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:10754200-10759600	Weak transcription	Right Atrium	heart
8	chr11:10754400-10757000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:10755000-10757000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:10755400-10757000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:10755600-10757000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:10755600-10757000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:10755600-10757600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:10755600-10758000	Enhancers	Fetal Stomach	stomach
15	chr11:10755800-10757000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:10755800-10757000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:10755800-10757000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:10756000-10756600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:10756000-10757000	Enhancers	Brain Anterior Caudate	brain
20	chr11:10756000-10757000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:10756200-10757000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:10756200-10757000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:10756200-10757000	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:10756200-10757000	Enhancers	Brain Hippocampus Middle	brain
25	chr11:10756200-10757400	Enhancers	Fetal Lung	lung
26	chr11:10756200-10757800	Weak transcription	Aorta	Aorta
27	chr11:10756200-10758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:10756200-10758200	Enhancers	Esophagus	oesophagus
29	chr11:10756200-10758200	Enhancers	Ovary	ovary
30	chr11:10756400-10756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:10756400-10756800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:10756400-10756800	Weak transcription	HUVEC	blood vessel
33	chr11:10756400-10757000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:10756400-10757000	Weak transcription	Brain Substantia Nigra	brain
35	chr11:10756400-10757000	Enhancers	Fetal Kidney	kidney
36	chr11:10756400-10757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:10756400-10757400	Enhancers	Fetal Brain Male	brain
38	chr11:10756400-10758000	Weak transcription	Lung	lung

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