Variant report

Variant	rs11217770
Chromosome Location	chr11:120090735-120090736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120087659..120092163-chr11:120106045..120111255,7	K562	blood:
2	chr11:120088424..120091961-chr11:120094010..120097522,6	K562	blood:
3	chr11:120089189..120092047-chr11:120097539..120099779,2	K562	blood:
4	chr11:120082173..120084864-chr11:120088352..120091615,4	MCF-7	breast:
5	chr11:120040035..120042877-chr11:120088247..120091000,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10892550	0.83[ASN][1000 genomes]
rs10892551	1.00[ASN][1000 genomes]
rs12786658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793354	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808181	1.00[ASN][1000 genomes]
rs873059	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120091800	Enhancers	Placenta	Placenta
2	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:120084000-120092200	Weak transcription	Fetal Thymus	thymus
5	chr11:120084200-120093000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120084400-120093000	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:120084600-120091400	Genic enhancers	Fetal Stomach	stomach
9	chr11:120084600-120091600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
11	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
12	chr11:120084800-120092000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:120085000-120092800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:120085200-120092400	Enhancers	Ovary	ovary
16	chr11:120085800-120091000	Enhancers	Liver	Liver
17	chr11:120086000-120092800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:120086200-120090800	Enhancers	Fetal Lung	lung
19	chr11:120086400-120091600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr11:120086400-120092600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:120086400-120097000	Weak transcription	NHEK	skin
22	chr11:120086600-120095800	Weak transcription	NH-A	brain
23	chr11:120087200-120093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:120087600-120094000	Enhancers	Stomach Mucosa	stomach
25	chr11:120088000-120092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:120088200-120092600	Enhancers	Right Ventricle	heart
27	chr11:120088400-120090800	Enhancers	Small Intestine	intestine
28	chr11:120088400-120091000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:120088400-120091000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:120088400-120091000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:120088400-120091000	Enhancers	NHLF	lung
32	chr11:120088400-120091400	Enhancers	Brain Angular Gyrus	brain
33	chr11:120088400-120091400	Genic enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:120088400-120091600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:120088400-120091800	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:120088400-120092000	Genic enhancers	Spleen	Spleen
37	chr11:120088400-120092600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:120088400-120092800	Enhancers	Brain Anterior Caudate	brain
39	chr11:120088400-120092800	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:120088400-120092800	Enhancers	Brain Substantia Nigra	brain
41	chr11:120088400-120092800	Enhancers	Colon Smooth Muscle	Colon
42	chr11:120088400-120092800	Enhancers	Gastric	stomach
43	chr11:120088400-120092800	Enhancers	Right Atrium	heart
44	chr11:120088400-120093000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:120088400-120093000	Enhancers	Esophagus	oesophagus
46	chr11:120088400-120094400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:120088600-120091400	Genic enhancers	Pancreas	Pancrea
48	chr11:120089200-120090800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:120089200-120091000	Enhancers	Adipose Nuclei	Adipose
50	chr11:120089200-120091200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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