Variant report

Variant	rs73942533
Chromosome Location	chr2:72403992-72403993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYSF-12	chr2:72402989-72405839	NONHSAT071575

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55978045	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460654	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942553	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942559	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942564	1.00[AMR][1000 genomes]
rs73942569	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942574	1.00[AMR][1000 genomes]
rs73943321	1.00[AMR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72393400-72407600	Weak transcription	HMEC	breast
2	chr2:72393600-72414800	Weak transcription	NHEK	skin
3	chr2:72394400-72409800	Weak transcription	A549	lung
4	chr2:72398400-72407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:72399600-72405800	Weak transcription	Esophagus	oesophagus
6	chr2:72400000-72404400	Weak transcription	Liver	Liver
7	chr2:72400600-72404600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:72400600-72405600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:72400600-72406400	Weak transcription	Fetal Brain Male	brain
10	chr2:72400800-72414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:72401000-72404600	Weak transcription	Gastric	stomach
12	chr2:72401000-72404600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:72401000-72405600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:72401000-72407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:72401000-72407800	Strong transcription	Fetal Stomach	stomach
16	chr2:72401200-72404600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:72401200-72404600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:72401200-72404800	Weak transcription	Ovary	ovary
19	chr2:72401200-72405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:72401200-72406000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:72401200-72406000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:72401200-72407600	Strong transcription	Fetal Brain Female	brain
23	chr2:72401200-72409600	Weak transcription	Spleen	Spleen
24	chr2:72401400-72404200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:72401400-72409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:72401600-72404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:72401600-72404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:72401600-72405000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:72401600-72407200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:72401600-72409400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:72401600-72411600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:72401600-72414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:72401600-72415200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:72401800-72404600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:72401800-72405200	Weak transcription	NH-A	brain
36	chr2:72401800-72407000	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:72401800-72407600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:72401800-72407600	Strong transcription	Left Ventricle	heart
39	chr2:72402000-72404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:72402000-72404600	Weak transcription	Lung	lung
41	chr2:72402000-72405400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:72402000-72406200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:72402000-72406400	Strong transcription	Brain Anterior Caudate	brain
44	chr2:72402000-72410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:72402200-72404600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:72402200-72405800	Strong transcription	Brain Angular Gyrus	brain
47	chr2:72402200-72406400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:72402200-72406600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:72402200-72406600	Strong transcription	Placenta	Placenta
50	chr2:72402200-72406800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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