Variant report

Variant	rs13030866
Chromosome Location	chr2:174037397-174037398
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	chr2:174024599..174026346-chr2:174036575..174038101,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11680612	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13004345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009008	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1837470	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35109796	0.90[ASN][1000 genomes]
rs35339538	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769184	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3769185	0.90[ASN][1000 genomes]
rs4344898	0.90[ASN][1000 genomes]
rs4972397	0.90[ASN][1000 genomes]
rs4972534	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6722254	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6750801	0.88[ASN][1000 genomes]
rs7575189	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13030866	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174026000-174037400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:174026000-174037800	Weak transcription	Aorta	Aorta
5	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:174026600-174037800	Weak transcription	Right Ventricle	heart
11	chr2:174026600-174048800	Weak transcription	Liver	Liver
12	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
13	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:174030000-174037600	Weak transcription	Left Ventricle	heart
16	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
17	chr2:174030800-174037600	Weak transcription	Psoas Muscle	Psoas
18	chr2:174030800-174037800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:174032400-174048800	Weak transcription	Dnd41	blood
21	chr2:174035000-174037600	Enhancers	A549	lung
22	chr2:174035600-174037400	Enhancers	Fetal Heart	heart
23	chr2:174035800-174037400	Enhancers	NHLF	lung
24	chr2:174035800-174037600	Enhancers	NHDF-Ad	bronchial
25	chr2:174035800-174038400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:174036000-174037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:174036000-174037400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:174036000-174037600	Enhancers	Osteobl	bone
29	chr2:174036400-174037400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:174036600-174037400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:174036600-174037400	Enhancers	NHEK	skin
32	chr2:174036800-174037400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:174036800-174037400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:174036800-174037400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:174036800-174037400	Enhancers	Stomach Mucosa	stomach
36	chr2:174036800-174037600	Enhancers	HSMM	muscle
37	chr2:174036800-174037600	Enhancers	HSMMtube	muscle
38	chr2:174036800-174037800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:174036800-174038200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
42	chr2:174037200-174037600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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