Variant report

Variant	rs73180141
Chromosome Location	chr2:11534709-11534710
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	chr2:11530260..11531942-chr2:11531985..11534972,2	MCF-7	breast:
2	chr2:11482371..11485428-chr2:11534025..11537515,3	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction
ENSG00000231403	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10803734	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	1.00[EUR][1000 genomes]
rs59554925	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61358269	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[EUR][1000 genomes]
rs6719325	1.00[AMR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7598673	1.00[EUR][1000 genomes]
rs7608777	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:11528000-11539800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:11528800-11535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:11529000-11535200	Weak transcription	Left Ventricle	heart
6	chr2:11529000-11538400	Weak transcription	Small Intestine	intestine
7	chr2:11530200-11540400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:11530400-11539000	Weak transcription	Colonic Mucosa	Colon
9	chr2:11530400-11546000	Weak transcription	Psoas Muscle	Psoas
10	chr2:11530800-11535200	Weak transcription	Liver	Liver
11	chr2:11531000-11539200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:11532000-11535800	Weak transcription	Gastric	stomach
13	chr2:11532000-11536600	Weak transcription	Stomach Mucosa	stomach
14	chr2:11532000-11536800	Weak transcription	Pancreas	Pancrea
15	chr2:11532000-11538200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:11532200-11535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11532200-11535600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:11532200-11535600	Weak transcription	Spleen	Spleen
19	chr2:11532400-11539000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:11532600-11535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:11532600-11539000	Enhancers	A549	lung
22	chr2:11532800-11535200	Weak transcription	Aorta	Aorta
23	chr2:11532800-11535200	Weak transcription	Fetal Brain Female	brain
24	chr2:11533000-11535200	Weak transcription	Lung	lung
25	chr2:11533200-11536200	Enhancers	Fetal Stomach	stomach
26	chr2:11533400-11535800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:11533600-11534800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:11533600-11534800	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:11533600-11534800	Enhancers	HSMMtube	muscle
30	chr2:11533600-11535400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:11533600-11535800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11533600-11536000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:11533600-11536000	Enhancers	NHDF-Ad	bronchial
34	chr2:11533600-11536800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11533600-11539000	Enhancers	Fetal Brain Male	brain
36	chr2:11533800-11534800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:11533800-11536000	Enhancers	Placenta	Placenta
38	chr2:11533800-11537000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:11533800-11539800	Enhancers	Fetal Heart	heart
40	chr2:11533800-11540200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:11534000-11535200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:11534000-11535800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:11534000-11538200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:11534000-11544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:11534200-11535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:11534200-11535200	Weak transcription	Right Atrium	heart
47	chr2:11534200-11535800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:11534200-11537400	Weak transcription	Hela-S3	cervix
49	chr2:11534200-11539000	Weak transcription	Fetal Intestine Small	intestine
50	chr2:11534400-11534800	Weak transcription	Adipose Nuclei	Adipose

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