Variant report

Variant	rs10173343
Chromosome Location	chr2:86526481-86526482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86519380..86521878-chr2:86524185..86527077,2	K562	blood:
2	chr2:86447692..86448797-chr2:86525346..86526631,6	MCF-7	breast:
3	chr2:86525418..86526527-chr2:86599676..86600615,4	MCF-7	breast:
4	chr2:86447857..86448893-chr2:86525541..86526483,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10185778	0.83[AMR][1000 genomes]
rs10188530	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388621	0.86[AFR][1000 genomes]
rs13389970	0.80[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417321	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418778	0.86[AFR][1000 genomes]
rs17027112	0.86[AFR][1000 genomes]
rs17027115	0.86[AFR][1000 genomes]
rs28645407	0.86[AFR][1000 genomes]
rs55721426	0.86[AFR][1000 genomes]
rs55877531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56902328	0.83[AMR][1000 genomes]
rs61258813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61708076	0.86[AFR][1000 genomes]
rs73944919	0.86[AFR][1000 genomes]
rs73945268	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86514000-86529200	Weak transcription	Pancreas	Pancrea
2	chr2:86518400-86527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:86521600-86528600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:86522600-86529000	Weak transcription	Small Intestine	intestine
5	chr2:86524000-86526800	Enhancers	Left Ventricle	heart
6	chr2:86524000-86527600	Enhancers	Psoas Muscle	Psoas
7	chr2:86524000-86527800	Enhancers	Right Ventricle	heart
8	chr2:86524000-86529600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:86524200-86527200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:86524200-86530000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:86524200-86530200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
13	chr2:86524400-86526800	Enhancers	Fetal Heart	heart
14	chr2:86524600-86533400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:86524800-86530200	Enhancers	Brain Angular Gyrus	brain
16	chr2:86525000-86529200	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:86525000-86530200	Enhancers	HSMMtube	muscle
18	chr2:86525200-86529600	Enhancers	Brain Anterior Caudate	brain
19	chr2:86525200-86530200	Enhancers	Brain Germinal Matrix	brain
20	chr2:86525400-86526600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86525600-86526600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:86525600-86526600	Enhancers	Fetal Intestine Large	intestine
23	chr2:86525600-86526600	Enhancers	Fetal Intestine Small	intestine
24	chr2:86525600-86529600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:86525600-86530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:86525800-86526600	Enhancers	Fetal Stomach	stomach
27	chr2:86525800-86527400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:86525800-86530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:86525800-86530200	Enhancers	Fetal Brain Female	brain
30	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
31	chr2:86526200-86526600	Enhancers	Spleen	Spleen
32	chr2:86526200-86528800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:86526200-86529600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:86526400-86526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:86526400-86527400	Weak transcription	Fetal Brain Male	brain
36	chr2:86526400-86527400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:86526400-86527400	Weak transcription	Right Atrium	heart
38	chr2:86526400-86528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:86526400-86528200	Weak transcription	Lung	lung
40	chr2:86526400-86529200	Weak transcription	Esophagus	oesophagus
41	chr2:86526400-86529600	Enhancers	Brain Substantia Nigra	brain
42	chr2:86526400-86529800	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:86526400-86530000	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:86526400-86530200	Enhancers	Brain Inferior Temporal Lobe	brain

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