Variant report

Variant	rs4627623
Chromosome Location	chr2:55385888-55385889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr2:55385743..55388295-chr2:55460088..55461878,2	K562	blood:
4	chr2:55381461..55384180-chr2:55385114..55387794,2	MCF-7	breast:
5	chr2:55366570..55369324-chr2:55383738..55386041,2	K562	blood:
6	chr2:55385743..55388454-chr2:55459849..55461588,2	K562	blood:
7	chr2:55272933..55279731-chr2:55382949..55387132,8	K562	blood:
8	chr2:55275348..55277918-chr2:55382981..55385901,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000143947	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11686766	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11686912	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12989854	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995548	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13003020	0.81[EUR][1000 genomes]
rs2028139	0.92[AMR][1000 genomes]
rs35141050	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35183885	0.84[AMR][1000 genomes]
rs35227659	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35700883	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4318424	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6742306	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6743339	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6747466	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71414544	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71414545	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71414546	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71414547	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71414548	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71414549	0.95[AFR][1000 genomes];0.89[EUR][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:103 , 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	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach
8	chr2:55378800-55386800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:55379400-55386600	Enhancers	Fetal Intestine Large	intestine
10	chr2:55379400-55387000	Enhancers	Fetal Intestine Small	intestine
11	chr2:55379600-55386800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:55380200-55386000	Enhancers	Hela-S3	cervix
13	chr2:55381000-55387800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
15	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
16	chr2:55381600-55386800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:55381600-55386800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:55381800-55387200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:55382600-55386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:55383400-55386600	Enhancers	Gastric	stomach
21	chr2:55383400-55386800	Enhancers	Left Ventricle	heart
22	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
23	chr2:55383600-55386600	Enhancers	Small Intestine	intestine
24	chr2:55383600-55386800	Enhancers	Colon Smooth Muscle	Colon
25	chr2:55383600-55387200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:55383600-55388600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
28	chr2:55383800-55386000	Enhancers	NH-A	brain
29	chr2:55383800-55386800	Enhancers	Spleen	Spleen
30	chr2:55383800-55386800	Enhancers	NHDF-Ad	bronchial
31	chr2:55383800-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:55383800-55387000	Enhancers	Lung	lung
33	chr2:55383800-55387200	Enhancers	Right Atrium	heart
34	chr2:55383800-55387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:55383800-55387600	Enhancers	Fetal Thymus	thymus
36	chr2:55383800-55388600	Enhancers	Brain Anterior Caudate	brain
37	chr2:55384000-55386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:55384000-55386800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:55384000-55386800	Enhancers	Osteobl	bone
40	chr2:55384000-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:55384000-55387000	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:55384000-55387600	Enhancers	HSMM	muscle
43	chr2:55384000-55389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:55384000-55389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:55384000-55390600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:55384000-55392800	Weak transcription	HMEC	breast
47	chr2:55384200-55386400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:55384200-55386600	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:55384200-55386800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:55384200-55386800	Enhancers	Sigmoid Colon	Sigmoid Colon

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