Variant report

Variant	rs56003241
Chromosome Location	chr2:174095734-174095735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11685001	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001439	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2028382	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28556935	0.90[EUR][1000 genomes]
rs6707969	0.92[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56003241	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174061200-174097600	Weak transcription	Lung	lung
3	chr2:174063600-174097600	Weak transcription	HSMM	muscle
4	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
10	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:174082200-174095800	Weak transcription	Fetal Stomach	stomach
12	chr2:174082200-174097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
15	chr2:174083600-174103400	Weak transcription	NHLF	lung
16	chr2:174083800-174097600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:174083800-174097600	Weak transcription	NHDF-Ad	bronchial
18	chr2:174083800-174119200	Weak transcription	HMEC	breast
19	chr2:174084000-174095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:174084000-174095800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:174084600-174097600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:174086200-174101600	Weak transcription	Ovary	ovary
23	chr2:174086400-174095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:174086400-174095800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:174086400-174096400	Weak transcription	Dnd41	blood
26	chr2:174086400-174098400	Weak transcription	GM12878-XiMat	blood
27	chr2:174086600-174095800	Weak transcription	Adipose Nuclei	Adipose
28	chr2:174087000-174096800	Weak transcription	Placenta	Placenta
29	chr2:174088200-174095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:174088400-174097600	Weak transcription	Osteobl	bone
31	chr2:174088800-174095800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:174089400-174097400	Weak transcription	NHEK	skin
33	chr2:174089600-174103000	Weak transcription	K562	blood
34	chr2:174089800-174096800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:174090200-174095800	Weak transcription	HSMMtube	muscle
36	chr2:174090400-174095800	Weak transcription	Left Ventricle	heart
37	chr2:174092000-174096000	Weak transcription	Stomach Mucosa	stomach
38	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:174092400-174095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:174092400-174095800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:174092400-174100600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:174092400-174100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:174092400-174101200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:174092600-174097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:174092800-174095800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:174092800-174096600	Weak transcription	A549	lung
47	chr2:174092800-174101200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:174093000-174096400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:174093000-174098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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