Variant report

Variant	rs4972539
Chromosome Location	chr2:174107299-174107300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12478987	0.90[MKK][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs1583784	0.84[CHD][hapmap];0.81[GIH][hapmap]
rs3739102	0.83[GIH][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	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
rs4972539	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
3	chr2:174083800-174119200	Weak transcription	HMEC	breast
4	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
7	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:174096400-174109200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
12	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
13	chr2:174096600-174130800	Weak transcription	Gastric	stomach
14	chr2:174096800-174108200	Weak transcription	Fetal Heart	heart
15	chr2:174096800-174108400	Strong transcription	Adipose Nuclei	Adipose
16	chr2:174098000-174109000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:174098200-174124000	Weak transcription	NH-A	brain
20	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
21	chr2:174098800-174124000	Weak transcription	Dnd41	blood
22	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:174099600-174123400	Weak transcription	A549	lung
26	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
27	chr2:174100200-174109600	Weak transcription	Fetal Brain Male	brain
28	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
29	chr2:174100800-174113400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:174101600-174109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:174101600-174114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:174101600-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
34	chr2:174101800-174109600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:174102400-174115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:174102800-174120800	Weak transcription	Fetal Stomach	stomach
38	chr2:174103600-174123400	Weak transcription	Osteobl	bone
39	chr2:174103800-174110000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:174103800-174124000	Weak transcription	K562	blood
41	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:174104000-174112600	Weak transcription	NHEK	skin
43	chr2:174104600-174117600	Weak transcription	Lung	lung
44	chr2:174105000-174133400	Weak transcription	NHLF	lung
45	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:174105200-174117800	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:174105200-174123800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:174105400-174107800	Weak transcription	Liver	Liver
49	chr2:174105400-174112400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:174105600-174107600	Weak transcription	Fetal Intestine Small	intestine

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