Variant report

Variant	rs884344
Chromosome Location	chr5:37824240-37824241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37819271..37821303-chr5:37822916..37825812,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10060017	0.81[ASN][1000 genomes]
rs10069455	0.89[ASN][1000 genomes]
rs10071586	0.92[ASN][1000 genomes]
rs10076344	0.87[ASN][1000 genomes]
rs10076391	0.89[ASN][1000 genomes]
rs10473069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11111	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12055296	0.90[ASN][1000 genomes]
rs13361833	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1423448	0.81[ASN][1000 genomes]
rs2075680	0.86[ASN][1000 genomes]
rs2075681	0.86[ASN][1000 genomes]
rs2366621	0.83[ASN][1000 genomes]
rs2910692	0.84[ASN][1000 genomes]
rs2910694	0.84[ASN][1000 genomes]
rs2910697	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2910698	0.86[ASN][1000 genomes]
rs2910699	0.86[ASN][1000 genomes]
rs2910700	0.87[ASN][1000 genomes]
rs2910701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2910705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2910706	0.99[ASN][1000 genomes]
rs2910707	1.00[ASN][1000 genomes]
rs2910757	0.82[ASN][1000 genomes]
rs2910759	0.82[ASN][1000 genomes]
rs2910760	0.83[ASN][1000 genomes]
rs2910797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973035	0.86[ASN][1000 genomes]
rs2973045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973047	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973112	0.82[ASN][1000 genomes]
rs2973117	0.83[ASN][1000 genomes]
rs2973118	0.83[ASN][1000 genomes]
rs2973119	0.83[ASN][1000 genomes]
rs2973120	0.84[ASN][1000 genomes]
rs2973121	0.84[ASN][1000 genomes]
rs2973122	0.82[ASN][1000 genomes]
rs2975100	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs60025605	0.90[ASN][1000 genomes]
rs67720228	0.99[ASN][1000 genomes]
rs9292674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs884344	HEATR7B2	cis	cerebellum	SCAN
rs884344	AGXT2	cis	cerebellum	SCAN
rs884344	C6	cis	cerebellum	SCAN
rs884344	LIFR	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37813400-37824400	Weak transcription	Fetal Kidney	kidney
2	chr5:37815800-37830600	Weak transcription	Ovary	ovary
3	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:37816800-37830600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:37816800-37831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:37817000-37831800	Weak transcription	NH-A	brain
7	chr5:37817200-37825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:37817400-37826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:37817400-37831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:37818400-37826200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:37819200-37825600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:37820200-37832000	Strong transcription	NHDF-Ad	bronchial
14	chr5:37821200-37826400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:37821800-37824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:37822600-37825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:37822800-37830600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:37823000-37824800	Strong transcription	NHEK	skin
20	chr5:37823200-37827000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:37823400-37824600	Strong transcription	HSMMtube	muscle
22	chr5:37823800-37824400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:37823800-37825200	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:37823800-37826200	Enhancers	Colon Smooth Muscle	Colon
25	chr5:37823800-37826400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:37824000-37824400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:37824000-37826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:37824200-37825200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:37824200-37825600	Weak transcription	Fetal Stomach	stomach
30	chr5:37824200-37826200	Weak transcription	Osteobl	bone
31	chr5:37824200-37826600	Weak transcription	HSMM	muscle

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