Variant report

Variant	rs72916704
Chromosome Location	chr2:55384876-55384877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55275586..55279731-chr2:55383502..55386447,3	K562	blood:
2	chr2:55366338..55369324-chr2:55384110..55386041,3	K562	blood:
3	chr2:55384078..55385579-chr2:55388774..55390849,2	MCF-7	breast:
4	chr2:55366570..55369324-chr2:55383738..55386041,2	K562	blood:
5	chr2:18390509..18393280-chr2:55382468..55384962,2	MCF-7	breast:
6	chr2:55272933..55279731-chr2:55382949..55387132,8	K562	blood:
7	chr2:55275348..55277918-chr2:55382981..55385901,3	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]
rs72914591	1.00[AMR][1000 genomes]
rs72914592	1.00[AMR][1000 genomes]
rs72914598	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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55378000-55386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:55378000-55386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:55378200-55386200	Enhancers	Brain Hippocampus Middle	brain
4	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
6	chr2:55378600-55385600	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach
9	chr2:55378800-55385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55378800-55386800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:55379200-55385200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:55379400-55385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:55379400-55386600	Enhancers	Fetal Intestine Large	intestine
14	chr2:55379400-55387000	Enhancers	Fetal Intestine Small	intestine
15	chr2:55379600-55385000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:55379600-55386800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:55380200-55386000	Enhancers	Hela-S3	cervix
18	chr2:55380800-55385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:55381000-55387800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
21	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
22	chr2:55381400-55385600	Enhancers	Brain Germinal Matrix	brain
23	chr2:55381600-55386800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:55381600-55386800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:55381800-55385200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:55381800-55385600	Enhancers	NHEK	skin
27	chr2:55381800-55387200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:55382000-55385000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:55382000-55385200	Enhancers	Fetal Lung	lung
30	chr2:55382000-55385400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:55382200-55385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:55382200-55385400	Bivalent Enhancer	HepG2	liver
33	chr2:55382600-55385400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55382600-55386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55383000-55385600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:55383000-55385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:55383200-55385000	Enhancers	Ovary	ovary
38	chr2:55383400-55385000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:55383400-55385000	Enhancers	Fetal Brain Female	brain
40	chr2:55383400-55386600	Enhancers	Gastric	stomach
41	chr2:55383400-55386800	Enhancers	Left Ventricle	heart
42	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
43	chr2:55383600-55385600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:55383600-55386600	Enhancers	Small Intestine	intestine
45	chr2:55383600-55386800	Enhancers	Colon Smooth Muscle	Colon
46	chr2:55383600-55387200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:55383600-55388600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
49	chr2:55383800-55385000	Enhancers	Fetal Brain Male	brain
50	chr2:55383800-55385400	Enhancers	Esophagus	oesophagus

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