Variant report

Variant	rs11690597
Chromosome Location	chr2:174085741-174085742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173882998..173885299-chr2:174084609..174087474,2	K562	blood:
2	chr2:174082835..174084549-chr2:174085627..174087746,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10497402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680555	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12478987	0.95[EUR][1000 genomes]
rs16861363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17710437	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3754739	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3769159	0.81[CHB][hapmap]
rs3769162	0.81[CHB][hapmap]
rs3769163	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56980119	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59500540	0.82[EUR][1000 genomes]
rs62175824	0.86[AMR][1000 genomes]
rs6746658	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7567355	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7575319	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7601536	0.86[AMR][1000 genomes];0.80[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
rs11690597	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
2	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
3	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
4	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
5	chr2:174061200-174097600	Weak transcription	Lung	lung
6	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:174063600-174097600	Weak transcription	HSMM	muscle
8	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
9	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
14	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
15	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:174076400-174087800	Weak transcription	K562	blood
17	chr2:174076800-174085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:174077000-174086000	Weak transcription	A549	lung
19	chr2:174077000-174091800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
21	chr2:174078800-174091200	Weak transcription	Liver	Liver
22	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:174079200-174085800	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:174082200-174085800	Weak transcription	Ovary	ovary
25	chr2:174082200-174088400	Weak transcription	Psoas Muscle	Psoas
26	chr2:174082200-174088800	Weak transcription	NHEK	skin
27	chr2:174082200-174095800	Weak transcription	Fetal Stomach	stomach
28	chr2:174082200-174097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:174082800-174092200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:174083200-174092200	Weak transcription	NH-A	brain
31	chr2:174083400-174086000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
34	chr2:174083600-174085800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:174083600-174089800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:174083600-174103400	Weak transcription	NHLF	lung
37	chr2:174083800-174085800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:174083800-174085800	Weak transcription	Adipose Nuclei	Adipose
39	chr2:174083800-174085800	Weak transcription	Left Ventricle	heart
40	chr2:174083800-174086000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:174083800-174086000	Weak transcription	GM12878-XiMat	blood
42	chr2:174083800-174087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:174083800-174088000	Weak transcription	Fetal Heart	heart
44	chr2:174083800-174088000	Weak transcription	Osteobl	bone
45	chr2:174083800-174089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:174083800-174090600	Weak transcription	Fetal Intestine Large	intestine
47	chr2:174083800-174091200	Weak transcription	Fetal Kidney	kidney
48	chr2:174083800-174092400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:174083800-174095000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:174083800-174097600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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