Variant report

Variant	rs6727541
Chromosome Location	chr2:173968309-173968310
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	chr2:173965020..173969595-chr2:173970768..173975249,5	K562	blood:
2	chr2:173957329..173958875-chr2:173966964..173968819,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10180382	0.82[ASN][1000 genomes]
rs10930577	0.80[ASN][1000 genomes]
rs10930578	0.80[ASN][1000 genomes]
rs11679192	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11681384	0.82[ASN][1000 genomes]
rs11692252	0.84[ASN][1000 genomes]
rs11885351	0.80[ASN][1000 genomes]
rs1545516	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17760899	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2034647	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2044515	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358084	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35464261	0.80[ASN][1000 genomes]
rs3754745	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754748	0.84[ASN][1000 genomes]
rs3769207	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972530	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6718374	0.82[ASN][1000 genomes]
rs6733082	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6735275	0.80[ASN][1000 genomes]
rs6758859	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558132	0.82[ASN][1000 genomes]
rs7558553	0.82[ASN][1000 genomes]
rs7604338	0.89[ASN][1000 genomes]
rs7608532	0.84[ASN][1000 genomes]
rs9636294	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs989532	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs990416	0.82[ASN][1000 genomes]
rs990417	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6727541	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
4	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
7	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
11	chr2:173955600-173971800	Weak transcription	Lung	lung
12	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:173955600-173984000	Weak transcription	Gastric	stomach
14	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:173956200-173969000	Weak transcription	NH-A	brain
16	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
17	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
18	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
20	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:173958200-173973800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:173958200-173974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:173959800-173974200	Weak transcription	HepG2	liver
25	chr2:173961400-173973400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:173961800-173970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:173961800-173974400	Weak transcription	NHLF	lung
28	chr2:173962000-173971000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:173964600-173968400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:173964600-173971200	Weak transcription	HSMM	muscle
32	chr2:173964600-173971600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:173965000-173974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:173965200-173969400	Weak transcription	Left Ventricle	heart
36	chr2:173965200-173969600	Weak transcription	Right Atrium	heart
37	chr2:173965400-173969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:173965400-173971400	Weak transcription	HMEC	breast
39	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
40	chr2:173965400-173987200	Weak transcription	Dnd41	blood
41	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:173965600-173970200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:173965600-173971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:173965600-173973800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:173965800-173970400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:173966600-173968800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:173966800-173971000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:173966800-173971200	Weak transcription	A549	lung
50	chr2:173966800-173973800	Weak transcription	NHEK	skin

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