Variant report

Variant	rs72916712
Chromosome Location	chr2:55388717-55388718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55277314..55278923-chr2:55386826..55389173,2	K562	blood:
2	chr2:55277523..55279403-chr2:55387349..55389378,2	K562	blood:
3	chr2:55274543..55277923-chr2:55387934..55394752,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs67085480	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6717482	0.80[ASN][1000 genomes]
rs6722862	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
2	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
3	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
4	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
5	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
6	chr2:55384000-55389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:55384000-55389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:55384000-55390600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:55384000-55392800	Weak transcription	HMEC	breast
10	chr2:55384200-55388800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:55384200-55389000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:55384200-55390600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:55384400-55388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:55384800-55389800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:55384800-55392200	Weak transcription	Right Ventricle	heart
16	chr2:55385000-55389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:55385200-55388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:55385200-55389800	Weak transcription	Fetal Lung	lung
19	chr2:55385400-55389200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:55385400-55390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:55385400-55390600	Weak transcription	A549	lung
22	chr2:55385600-55388800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:55386000-55395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:55386600-55388800	Weak transcription	Gastric	stomach
25	chr2:55386600-55389800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:55386600-55390000	Weak transcription	Ovary	ovary
27	chr2:55386600-55390400	Weak transcription	Aorta	Aorta
28	chr2:55386600-55390400	Weak transcription	Fetal Intestine Large	intestine
29	chr2:55386600-55390600	Weak transcription	Small Intestine	intestine
30	chr2:55386600-55390600	Weak transcription	Hela-S3	cervix
31	chr2:55386800-55388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:55386800-55388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:55386800-55388800	Weak transcription	Fetal Brain Female	brain
34	chr2:55386800-55389200	Weak transcription	K562	blood
35	chr2:55386800-55389600	Weak transcription	HSMMtube	muscle
36	chr2:55386800-55389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:55386800-55389800	Weak transcription	Placenta	Placenta
38	chr2:55386800-55389800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:55386800-55389800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:55386800-55390000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:55386800-55390000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:55386800-55390000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:55386800-55390000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:55386800-55390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:55386800-55390200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:55386800-55390400	Weak transcription	Fetal Stomach	stomach
47	chr2:55386800-55390800	Weak transcription	Colonic Mucosa	Colon
48	chr2:55386800-55416600	Weak transcription	Esophagus	oesophagus
49	chr2:55387000-55390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:55387200-55389000	Weak transcription	Fetal Muscle Trunk	muscle

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