Variant report

Variant	rs6759787
Chromosome Location	chr2:173959849-173959850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10180382	0.86[ASN][1000 genomes]
rs10930577	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11679192	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11681384	0.86[ASN][1000 genomes]
rs11692252	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1545516	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17760899	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2034647	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044515	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358084	0.85[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754745	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3754748	0.83[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs3769207	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972530	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6718374	0.86[ASN][1000 genomes]
rs6727541	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733082	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735275	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6746656	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs6758859	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558132	0.86[ASN][1000 genomes]
rs7558553	0.86[ASN][1000 genomes]
rs7575189	0.81[CEU][hapmap]
rs7604338	0.86[ASN][1000 genomes]
rs7608532	0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9636294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989531	0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs989532	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs990416	0.86[ASN][1000 genomes]
rs990417	0.86[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
rs6759787	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
3	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
5	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
9	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:173954800-173963000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:173955600-173964800	Weak transcription	Esophagus	oesophagus
15	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
16	chr2:173955600-173971800	Weak transcription	Lung	lung
17	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:173955600-173984000	Weak transcription	Gastric	stomach
19	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:173956000-173963600	Weak transcription	HSMM	muscle
21	chr2:173956200-173960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:173956200-173964400	Weak transcription	GM12878-XiMat	blood
23	chr2:173956200-173969000	Weak transcription	NH-A	brain
24	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
25	chr2:173956800-173961000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:173957000-173961000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:173957000-173963600	Weak transcription	Right Ventricle	heart
28	chr2:173957000-173964600	Weak transcription	Ovary	ovary
29	chr2:173957000-173964800	Weak transcription	Aorta	Aorta
30	chr2:173957000-173966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
32	chr2:173957200-173960800	Weak transcription	Osteobl	bone
33	chr2:173957200-173961400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:173957800-173960600	Weak transcription	Dnd41	blood
36	chr2:173957800-173961400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:173957800-173963600	Weak transcription	Left Ventricle	heart
38	chr2:173957800-173964800	Weak transcription	Psoas Muscle	Psoas
39	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
40	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:173958000-173960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:173958000-173960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:173958000-173961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:173958000-173961800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:173958000-173964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:173958000-173964600	Weak transcription	NHEK	skin
47	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:173958200-173960800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:173958200-173961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:173958200-173964000	Weak transcription	Stomach Smooth Muscle	stomach

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