Variant report

Variant	rs72918396
Chromosome Location	chr2:73210149-73210150
allele	A/G
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:20)

rs_ID	r²[population]
rs34107419	1.00[ASN][1000 genomes]
rs56996879	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292098	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61426399	1.00[EUR][1000 genomes]
rs6712130	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6753198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916266	1.00[EUR][1000 genomes]
rs72916280	1.00[EUR][1000 genomes]
rs72918394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918398	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920409	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72920414	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920429	0.85[AFR][1000 genomes]
rs72920431	0.83[AFR][1000 genomes]
rs72920444	0.80[AFR][1000 genomes]
rs7560421	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599245	0.85[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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:73168800-73226800	Weak transcription	NHLF	lung
3	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
4	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:73177400-73215200	Weak transcription	Osteobl	bone
6	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
8	chr2:73182800-73213000	Weak transcription	Fetal Lung	lung
9	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:73188800-73211600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:73193400-73210200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:73194400-73210400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:73194400-73211400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:73194600-73210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:73195200-73210400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
21	chr2:73200800-73210200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:73201800-73210800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:73203200-73210200	Weak transcription	Fetal Brain Female	brain
24	chr2:73203200-73218400	Weak transcription	Brain Germinal Matrix	brain
25	chr2:73203400-73211200	Weak transcription	Fetal Brain Male	brain
26	chr2:73207200-73211200	Enhancers	Fetal Heart	heart
27	chr2:73207200-73213600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:73207200-73214200	Enhancers	Left Ventricle	heart
29	chr2:73207800-73211000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:73208000-73215000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:73208000-73215200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:73208200-73210400	Strong transcription	Brain Cingulate Gyrus	brain
35	chr2:73208200-73212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:73208200-73217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:73208200-73218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:73208400-73217200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:73208400-73227400	Weak transcription	A549	lung
41	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:73208600-73210200	Strong transcription	Brain Hippocampus Middle	brain
43	chr2:73208600-73210600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:73208600-73217200	Weak transcription	NHEK	skin
45	chr2:73208600-73217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:73208800-73210400	Strong transcription	Fetal Intestine Small	intestine
48	chr2:73209000-73210600	Weak transcription	Stomach Mucosa	stomach
49	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:73209000-73227200	Weak transcription	HSMM	muscle

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