Variant report

Variant	rs72944402
Chromosome Location	chr2:98368142-98368143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98367186..98369342-chr2:98372074..98374129,2	MCF-7	breast:
2	chr2:98367567..98369745-chr2:98371169..98373784,2	K562	blood:
3	chr2:98363180..98364793-chr2:98365959..98368616,2	K562	blood:
4	chr2:98364771..98366916-chr2:98367018..98368855,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs58332522	0.97[AFR][1000 genomes]
rs59294983	0.80[AFR][1000 genomes]
rs59646872	0.80[AFR][1000 genomes]
rs61043662	0.90[AFR][1000 genomes]
rs6543062	0.97[AFR][1000 genomes]
rs6739810	0.87[AFR][1000 genomes]
rs72942846	0.90[AFR][1000 genomes]
rs72942852	0.90[AFR][1000 genomes]
rs72942859	0.90[AFR][1000 genomes]
rs72942873	0.90[AFR][1000 genomes]
rs72944400	0.80[AFR][1000 genomes]
rs72944837	0.87[AFR][1000 genomes]
rs72944838	0.87[AFR][1000 genomes]
rs72946404	0.93[AFR][1000 genomes]
rs72946446	1.00[AFR][1000 genomes]
rs72946451	1.00[AFR][1000 genomes]
rs72951139	0.97[AFR][1000 genomes]
rs72951143	0.97[AFR][1000 genomes]
rs72951144	0.97[AFR][1000 genomes]
rs72951153	0.97[AFR][1000 genomes]
rs72951165	1.00[AFR][1000 genomes]
rs72951167	0.94[AFR][1000 genomes]
rs72951170	0.80[AFR][1000 genomes]
rs72951174	0.80[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
2	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
4	chr2:98355000-98373200	Weak transcription	Gastric	stomach
5	chr2:98357400-98368600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:98357400-98371400	Weak transcription	Dnd41	blood
7	chr2:98357400-98372000	Weak transcription	Pancreas	Pancrea
8	chr2:98358600-98372000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:98358800-98371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:98359000-98368400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:98359000-98368400	Weak transcription	NHLF	lung
12	chr2:98359200-98368600	Weak transcription	NH-A	brain
13	chr2:98359200-98368600	Weak transcription	Osteobl	bone
14	chr2:98359200-98371000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:98359200-98371200	Weak transcription	Small Intestine	intestine
16	chr2:98359200-98371800	Weak transcription	Right Ventricle	heart
17	chr2:98359200-98382400	Weak transcription	Psoas Muscle	Psoas
18	chr2:98359600-98371000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:98359600-98371000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:98360200-98371200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:98360800-98368400	Weak transcription	NHEK	skin
22	chr2:98360800-98369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:98361000-98368200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:98361000-98373200	Weak transcription	Ovary	ovary
25	chr2:98361200-98369200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:98361200-98370600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:98361200-98371200	Weak transcription	Brain Anterior Caudate	brain
28	chr2:98361200-98371200	Weak transcription	HepG2	liver
29	chr2:98361200-98371400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:98361200-98371800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:98361200-98372000	Weak transcription	Aorta	Aorta
32	chr2:98362000-98371400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:98362600-98371200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:98362800-98372200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:98363200-98368400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:98363200-98369000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:98363200-98375600	Weak transcription	Hela-S3	cervix
38	chr2:98363600-98371800	Weak transcription	A549	lung
39	chr2:98363800-98373200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:98364200-98368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:98364200-98373400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:98364600-98368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:98364600-98374800	Weak transcription	Stomach Mucosa	stomach
44	chr2:98364600-98375000	Weak transcription	Fetal Brain Male	brain
45	chr2:98364800-98372200	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:98365000-98368200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:98365000-98368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:98365000-98369600	Weak transcription	NHDF-Ad	bronchial
49	chr2:98365000-98373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:98365200-98370800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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