Variant report

Variant	rs73180151
Chromosome Location	chr2:11545641-11545642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11545022..11549769-chr2:11549850..11555213,6	K562	blood:
2	chr2:11538533..11540781-chr2:11543895..11545875,2	MCF-7	breast:
3	chr2:11483375..11485550-chr2:11543993..11546287,2	K562	blood:
4	chr2:11544399..11546841-chr2:11549299..11551569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224177	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10427206	1.00[EUR][1000 genomes]
rs10520085	1.00[EUR][1000 genomes]
rs16857583	1.00[EUR][1000 genomes]
rs56714132	1.00[EUR][1000 genomes]
rs57108153	1.00[EUR][1000 genomes]
rs58950938	1.00[EUR][1000 genomes]
rs59489734	1.00[EUR][1000 genomes]
rs59636084	1.00[EUR][1000 genomes]
rs59936690	1.00[EUR][1000 genomes]
rs60215345	1.00[EUR][1000 genomes]
rs61039324	1.00[EUR][1000 genomes]
rs73187491	1.00[EUR][1000 genomes]
rs73187494	1.00[EUR][1000 genomes]
rs73189350	1.00[EUR][1000 genomes]
rs73189353	1.00[EUR][1000 genomes]
rs73189354	1.00[EUR][1000 genomes]
rs73189377	1.00[EUR][1000 genomes]
rs73915421	1.00[EUR][1000 genomes]
rs73915425	1.00[EUR][1000 genomes]
rs73915426	1.00[EUR][1000 genomes]
rs73915428	1.00[EUR][1000 genomes]
rs73915429	1.00[EUR][1000 genomes]
rs73915430	1.00[EUR][1000 genomes]
rs73915431	1.00[EUR][1000 genomes]
rs73915432	1.00[EUR][1000 genomes]
rs73915433	1.00[EUR][1000 genomes]
rs73915434	1.00[EUR][1000 genomes]
rs73915435	1.00[EUR][1000 genomes]
rs73917236	1.00[EUR][1000 genomes]
rs73917248	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11530400-11546000	Weak transcription	Psoas Muscle	Psoas
2	chr2:11534600-11547000	Weak transcription	HSMM	muscle
3	chr2:11540600-11547400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:11542800-11546000	Enhancers	Spleen	Spleen
5	chr2:11543400-11545800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr2:11543600-11545800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:11543600-11546800	Enhancers	Placenta	Placenta
8	chr2:11543600-11547400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:11543600-11547800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11543600-11548400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:11543800-11546200	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:11543800-11547000	Enhancers	Fetal Intestine Large	intestine
13	chr2:11543800-11547000	Enhancers	NHDF-Ad	bronchial
14	chr2:11543800-11547600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:11543800-11548000	Enhancers	Hela-S3	cervix
16	chr2:11544000-11546000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:11544000-11547000	Enhancers	Colonic Mucosa	Colon
18	chr2:11544000-11547200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11544000-11547800	Enhancers	Stomach Mucosa	stomach
20	chr2:11544200-11545800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:11544200-11546200	Enhancers	Right Ventricle	heart
22	chr2:11544400-11545800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:11544400-11545800	Weak transcription	Fetal Lung	lung
24	chr2:11544400-11546000	Weak transcription	Fetal Stomach	stomach
25	chr2:11544400-11546400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:11544400-11546800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:11544400-11546800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11544400-11547200	Weak transcription	Small Intestine	intestine
29	chr2:11544400-11547200	Weak transcription	K562	blood
30	chr2:11544600-11546200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11544600-11546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:11544600-11546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11544600-11551600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:11545000-11546000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:11545000-11546200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:11545000-11546400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:11545000-11546400	Weak transcription	Osteobl	bone
38	chr2:11545000-11552000	Weak transcription	Lung	lung
39	chr2:11545200-11546200	Weak transcription	Fetal Heart	heart
40	chr2:11545200-11546400	Weak transcription	Adipose Nuclei	Adipose
41	chr2:11545200-11548000	Enhancers	HepG2	liver
42	chr2:11545200-11551800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:11545400-11547400	Enhancers	Fetal Intestine Small	intestine
44	chr2:11545600-11545800	Enhancers	Aorta	Aorta
45	chr2:11545600-11546000	Weak transcription	Left Ventricle	heart
46	chr2:11545600-11546200	Enhancers	Gastric	stomach
47	chr2:11545600-11546200	Enhancers	HUVEC	blood vessel
48	chr2:11545600-11546800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:11545600-11547400	Enhancers	A549	lung
50	chr2:11545600-11548000	Enhancers	NHLF	lung

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