Variant report

Variant	rs12360647
Chromosome Location	chr11:9751089-9751090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9482649..9484669-chr11:9749326..9752164,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10743117	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743118	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10840293	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840294	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840295	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10840296	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs173396	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs360136	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs360137	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs360153	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs360155	0.88[EUR][1000 genomes]
rs360156	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs360157	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs360158	0.91[EUR][1000 genomes]
rs378825	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs415895	0.85[AFR][1000 genomes]
rs436637	0.90[ASN][1000 genomes]
rs472109	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4910498	0.83[AFR][1000 genomes]
rs491205	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs93138	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs93139	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9943599	0.90[AMR][1000 genomes];0.94[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
5	chr11:9732000-9754000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:9733200-9754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:9733400-9754200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
9	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
11	chr11:9737600-9753800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:9737600-9754200	Weak transcription	Gastric	stomach
13	chr11:9738600-9752400	Weak transcription	Thymus	Thymus
14	chr11:9739800-9754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:9740000-9754000	Weak transcription	HepG2	liver
16	chr11:9740000-9758000	Weak transcription	Aorta	Aorta
17	chr11:9740000-9762000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:9742000-9754000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:9742200-9752400	Weak transcription	Fetal Thymus	thymus
20	chr11:9742200-9754200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:9742200-9754200	Weak transcription	Brain Anterior Caudate	brain
22	chr11:9742200-9754200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:9742200-9754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:9742200-9754200	Weak transcription	Fetal Lung	lung
25	chr11:9742200-9754200	Weak transcription	Right Ventricle	heart
26	chr11:9742200-9754600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:9742200-9756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:9742200-9758400	Weak transcription	Brain Substantia Nigra	brain
29	chr11:9742200-9759800	Weak transcription	Fetal Kidney	kidney
30	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
31	chr11:9742400-9754200	Weak transcription	Spleen	Spleen
32	chr11:9744400-9756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:9744600-9761400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:9744800-9753800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9744800-9756000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:9744800-9758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:9745000-9775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:9745600-9752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:9745600-9758600	Strong transcription	NHDF-Ad	bronchial
40	chr11:9746200-9752600	Strong transcription	Placenta	Placenta
41	chr11:9747000-9752000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:9747400-9754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:9747400-9757000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:9747600-9754000	Weak transcription	Fetal Stomach	stomach
45	chr11:9747600-9754000	Weak transcription	Pancreas	Pancrea
46	chr11:9747600-9755000	Genic enhancers	Primary B cells from cord blood	blood
47	chr11:9748200-9751600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:9748200-9754200	Weak transcription	Colonic Mucosa	Colon
49	chr11:9748400-9751800	Genic enhancers	GM12878-XiMat	blood
50	chr11:9748600-9753200	Weak transcription	Primary hematopoietic stem cells	blood

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