Variant report

Variant	rs683899
Chromosome Location	chr11:86187591-86187592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86185108..86187955-chr11:86510499..86513131,2	MCF-7	breast:
2	chr11:86186448..86190207-chr11:86221573..86225734,3	K562	blood:
3	chr11:86187402..86190173-chr11:86451965..86454595,2	MCF-7	breast:
4	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:
5	chr11:86187209..86189140-chr11:86192637..86195160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2446224	0.82[ASN][1000 genomes]
rs2446225	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446230	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511082	0.81[ASN][1000 genomes]
rs2511083	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944588	0.83[ASN][1000 genomes]
rs579719	0.82[ASN][1000 genomes]
rs582282	0.82[ASN][1000 genomes]
rs583594	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584953	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs587362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs590750	0.83[ASN][1000 genomes]
rs601646	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs610476	0.82[ASN][1000 genomes]
rs610790	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs611730	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614995	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs616794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs620054	0.80[ASN][1000 genomes]
rs621653	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs630454	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs631082	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632873	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs633708	0.84[ASN][1000 genomes]
rs638492	0.86[ASN][1000 genomes]
rs641541	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs643414	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs647561	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs653715	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs658324	0.82[ASN][1000 genomes]
rs660372	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661163	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661328	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs663208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs669325	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs675775	0.80[ASN][1000 genomes]
rs676106	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677301	0.83[ASN][1000 genomes]
rs677643	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679977	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs681333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
4	chr11:86171800-86188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
6	chr11:86172400-86192800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:86172600-86194800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:86172800-86188800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:86174600-86188800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:86176800-86188600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:86181800-86208800	Weak transcription	Gastric	stomach
16	chr11:86183800-86189600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:86184000-86188200	Enhancers	Right Atrium	heart
18	chr11:86184400-86187600	Weak transcription	Fetal Heart	heart
19	chr11:86184400-86190000	Enhancers	Stomach Smooth Muscle	stomach
20	chr11:86184800-86188600	Enhancers	HUVEC	blood vessel
21	chr11:86184800-86189600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:86184800-86190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:86185000-86188600	Weak transcription	K562	blood
24	chr11:86185200-86191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:86185600-86188600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:86185600-86188800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:86185600-86188800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:86185600-86193800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:86185800-86188600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:86185800-86188800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:86185800-86188800	Weak transcription	Adipose Nuclei	Adipose
32	chr11:86185800-86188800	Weak transcription	HSMM	muscle
33	chr11:86185800-86189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:86185800-86191400	Weak transcription	NHEK	skin
35	chr11:86185800-86195000	Weak transcription	Lung	lung
36	chr11:86186000-86191400	Weak transcription	HMEC	breast
37	chr11:86186400-86191200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:86186400-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:86186600-86188200	Enhancers	Fetal Brain Male	brain
40	chr11:86187000-86188000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:86187000-86188000	Enhancers	Fetal Intestine Large	intestine
42	chr11:86187000-86188800	Enhancers	Fetal Kidney	kidney
43	chr11:86187000-86189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:86187000-86189400	Enhancers	NHLF	lung
45	chr11:86187200-86187600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86187200-86187600	Enhancers	Fetal Stomach	stomach
47	chr11:86187200-86187600	Flanking Active TSS	Ovary	ovary
48	chr11:86187200-86187600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr11:86187200-86187600	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:86187200-86187600	Enhancers	NH-A	brain

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