Variant report

Variant	rs4820944
Chromosome Location	chr22:31545391-31545392
allele	G/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31478295..31481247-chr22:31543765..31545461,2	MCF-7	breast:
2	chr22:31492929..31495989-chr22:31543967..31548014,3	K562	blood:
3	chr22:31343745..31344422-chr22:31544949..31545678,3	MCF-7	breast:
4	chr22:31543984..31547143-chr22:31547810..31551610,3	MCF-7	breast:
5	chr22:31484785..31485788-chr22:31544555..31545568,8	MCF-7	breast:
6	chr22:31544607..31546383-chr22:31550642..31552877,2	MCF-7	breast:
7	chr22:31486323..31486894-chr22:31544767..31545405,2	K562	blood:
8	chr22:31503348..31504383-chr22:31544627..31545652,18	MCF-7	breast:
9	chr22:31544957..31545677-chr22:31607597..31608412,2	MCF-7	breast:
10	chr22:31503416..31504244-chr22:31544675..31545479,2	K562	blood:
11	chr22:31484855..31485738-chr22:31544748..31545579,2	MCF-7	breast:
12	chr22:31503217..31504314-chr22:31544578..31545664,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198832	Chromatin interaction
ENSG00000214125	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2079430	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2413030	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4618154	0.87[CHB][hapmap]
rs5753474	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5753480	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5753481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5753482	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62237392	0.98[ASN][1000 genomes]
rs730286	0.87[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4820944	HSCB	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31544200-31545400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:31544400-31545600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:31544400-31545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:31544600-31545400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:31544600-31545400	Enhancers	Adipose Nuclei	Adipose
6	chr22:31544600-31545400	Enhancers	Brain Anterior Caudate	brain
7	chr22:31544600-31545400	Enhancers	Brain Hippocampus Middle	brain
8	chr22:31544600-31545400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr22:31544600-31545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:31544600-31545400	Enhancers	Hela-S3	cervix
11	chr22:31544600-31545400	Enhancers	Osteobl	bone
12	chr22:31544600-31545600	Enhancers	Colon Smooth Muscle	Colon
13	chr22:31544600-31546200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr22:31544800-31545400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr22:31544800-31545400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:31544800-31545400	Enhancers	Brain Angular Gyrus	brain
17	chr22:31544800-31545400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr22:31544800-31545400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31544800-31545400	Enhancers	Brain Substantia Nigra	brain
20	chr22:31544800-31545400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:31544800-31545400	Enhancers	Stomach Mucosa	stomach
22	chr22:31544800-31545600	Enhancers	Fetal Heart	heart
23	chr22:31544800-31545800	Enhancers	HepG2	liver
24	chr22:31544800-31546800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:31545000-31545400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31545000-31545400	Enhancers	Ovary	ovary
27	chr22:31545000-31545400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:31545200-31551000	Weak transcription	Fetal Muscle Leg	muscle
29	chr22:31545200-31555400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:31545200-31555600	Weak transcription	Fetal Intestine Small	intestine

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