Variant report

Variant	rs4670944
Chromosome Location	chr2:39778109-39778110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39772343..39775422-chr2:39777666..39780390,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12712645	0.84[EUR][1000 genomes]
rs12994521	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13020343	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027520	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13035388	0.87[ASN][1000 genomes]
rs1405085	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526027	0.94[EUR][1000 genomes]
rs17473802	0.87[ASW][hapmap]
rs17474808	0.84[ASN][1000 genomes]
rs17533512	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35377016	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6745941	0.94[EUR][1000 genomes]
rs71439259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734663	0.87[ASW][hapmap];0.83[GIH][hapmap];0.87[LWK][hapmap]
rs7594967	0.87[ASW][hapmap]

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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4670944	DHX57	cis	parietal	SCAN
rs4670944	MAP4K3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
2	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
3	chr2:39773200-39778200	Enhancers	HMEC	breast
4	chr2:39775800-39780400	Enhancers	HepG2	liver
5	chr2:39776400-39778400	Enhancers	Stomach Mucosa	stomach
6	chr2:39776400-39779000	Enhancers	Fetal Intestine Small	intestine
7	chr2:39776600-39778600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:39776800-39778200	Enhancers	K562	blood
9	chr2:39777000-39778400	Enhancers	Fetal Kidney	kidney
10	chr2:39777000-39778800	Enhancers	Fetal Heart	heart
11	chr2:39777000-39779200	Enhancers	HUVEC	blood vessel
12	chr2:39777200-39778400	Enhancers	Liver	Liver
13	chr2:39777400-39778800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:39777600-39778200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:39777600-39778400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:39777600-39778400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr2:39777600-39778400	Enhancers	NH-A	brain
18	chr2:39777600-39778600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:39777600-39778800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:39777600-39779200	Enhancers	Hela-S3	cervix
21	chr2:39777800-39778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:39777800-39778200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:39777800-39778200	Enhancers	Osteobl	bone
24	chr2:39777800-39778400	Enhancers	A549	lung
25	chr2:39777800-39778600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:39777800-39778600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:39777800-39778600	Enhancers	HSMM	muscle
28	chr2:39777800-39778600	Enhancers	NHEK	skin
29	chr2:39778000-39779000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:39778000-39788000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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