Variant report

Variant	rs12478987
Chromosome Location	chr2:174092229-174092230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174091632..174094180-chr2:174097237..174099910,2	MCF-7	breast:
2	chr2:174088647..174090235-chr2:174090386..174093272,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10497402	0.89[CEU][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs11690597	0.95[EUR][1000 genomes]
rs16861363	0.89[CEU][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs17710437	0.89[MEX][hapmap]
rs3754739	0.81[EUR][1000 genomes]
rs3754746	0.89[CHD][hapmap]
rs4972539	0.90[MKK][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs6746658	0.90[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
rs12478987	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
2	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
3	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
4	chr2:174061200-174097600	Weak transcription	Lung	lung
5	chr2:174063600-174097600	Weak transcription	HSMM	muscle
6	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
7	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
12	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
13	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
15	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:174082200-174095800	Weak transcription	Fetal Stomach	stomach
17	chr2:174082200-174097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
20	chr2:174083600-174103400	Weak transcription	NHLF	lung
21	chr2:174083800-174092400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:174083800-174095000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:174083800-174097600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:174083800-174097600	Weak transcription	NHDF-Ad	bronchial
25	chr2:174083800-174119200	Weak transcription	HMEC	breast
26	chr2:174084000-174095200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:174084000-174095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:174084000-174095800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:174084400-174094200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:174084600-174097600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:174086200-174095000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:174086200-174101600	Weak transcription	Ovary	ovary
33	chr2:174086400-174095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:174086400-174095800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:174086400-174096400	Weak transcription	Dnd41	blood
36	chr2:174086400-174098400	Weak transcription	GM12878-XiMat	blood
37	chr2:174086600-174095800	Weak transcription	Adipose Nuclei	Adipose
38	chr2:174087000-174096800	Weak transcription	Placenta	Placenta
39	chr2:174088200-174095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:174088400-174093600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:174088400-174097600	Weak transcription	Osteobl	bone
42	chr2:174088800-174092600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:174088800-174095800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:174089400-174097400	Weak transcription	NHEK	skin
45	chr2:174089600-174103000	Weak transcription	K562	blood
46	chr2:174089800-174096800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:174090200-174095600	Weak transcription	Fetal Heart	heart
48	chr2:174090200-174095800	Weak transcription	HSMMtube	muscle
49	chr2:174090400-174095800	Weak transcription	Left Ventricle	heart
50	chr2:174091200-174092400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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