Variant report

Variant	rs73947226
Chromosome Location	chr2:86853181-86853182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496321	1.00[AMR][1000 genomes]
rs1607448	1.00[AMR][1000 genomes]
rs2044233	0.85[AFR][1000 genomes]
rs4341929	0.81[AFR][1000 genomes]
rs55645731	1.00[AMR][1000 genomes]
rs58382371	1.00[AMR][1000 genomes]
rs59520922	1.00[AMR][1000 genomes]
rs60391171	1.00[AMR][1000 genomes]
rs73945298	1.00[AMR][1000 genomes]
rs73945300	1.00[AMR][1000 genomes]
rs73946205	1.00[AMR][1000 genomes]
rs73946210	1.00[AMR][1000 genomes]
rs73946213	1.00[AMR][1000 genomes]
rs73946224	1.00[AMR][1000 genomes]
rs73949508	1.00[AMR][1000 genomes]
rs73949836	1.00[AMR][1000 genomes]
rs73949841	1.00[AMR][1000 genomes]
rs73949843	0.83[AMR][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	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
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv436305	chr2:86849862-86854021	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86851000-86854800	Weak transcription	Gastric	stomach
2	chr2:86851000-86854800	Weak transcription	Small Intestine	intestine
3	chr2:86851000-86856400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:86851000-86860400	Weak transcription	Lung	lung
5	chr2:86851200-86854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:86851200-86858400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:86851200-86860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:86851400-86853200	Enhancers	Stomach Mucosa	stomach
9	chr2:86851400-86855400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:86851600-86853200	Enhancers	Brain Anterior Caudate	brain
11	chr2:86851600-86854400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:86851600-86854600	Weak transcription	Liver	Liver
13	chr2:86851600-86854600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:86851600-86854600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:86851600-86854600	Weak transcription	Pancreas	Pancrea
16	chr2:86851600-86854600	Weak transcription	GM12878-XiMat	blood
17	chr2:86851600-86854800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:86851600-86855400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:86851600-86855400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:86851600-86856800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:86851600-86858600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:86851600-86858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:86851600-86858600	Weak transcription	HMEC	breast
24	chr2:86851800-86860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:86851800-86860400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:86852400-86858600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:86852600-86853200	Enhancers	Brain Hippocampus Middle	brain
28	chr2:86852600-86858600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:86852800-86854600	Weak transcription	A549	lung
30	chr2:86852800-86855200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:86852800-86857200	Weak transcription	Colonic Mucosa	Colon
32	chr2:86852800-86859000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:86853000-86854200	Weak transcription	HepG2	liver
34	chr2:86853000-86854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:86853000-86859000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:86853000-86859400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:86853000-86859600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:86853000-86860400	Weak transcription	Brain Inferior Temporal Lobe	brain

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