Variant report

Variant	rs11679192
Chromosome Location	chr2:174000650-174000651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173938869..173942300-chr2:173999393..174002549,3	K562	blood:
2	chr2:173998706..174001151-chr2:174010395..174012464,2	K562	blood:
3	chr2:173938732..173942486-chr2:173997338..174001096,5	K562	blood:
4	chr2:173984313..173986145-chr2:174000208..174002832,2	K562	blood:
5	chr2:173994976..173996675-chr2:173999550..174001864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10211033	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930577	0.94[ASN][1000 genomes]
rs10930578	0.94[ASN][1000 genomes]
rs11885351	0.94[ASN][1000 genomes]
rs11901217	0.80[ASN][1000 genomes]
rs13407319	0.85[ASN][1000 genomes]
rs1347988	0.81[AFR][1000 genomes]
rs17760899	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35464261	0.94[ASN][1000 genomes]
rs3754745	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769207	0.81[EUR][1000 genomes]
rs4972530	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6727541	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6735275	0.94[ASN][1000 genomes]
rs6758859	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7604338	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9636294	0.81[EUR][1000 genomes];0.83[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
rs11679192	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
3	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
4	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
7	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:173991800-174000800	Weak transcription	NH-A	brain
9	chr2:173991800-174005200	Weak transcription	K562	blood
10	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:173995800-174000800	Weak transcription	A549	lung
12	chr2:173996000-174001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:173996000-174001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:173996400-174000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:173996600-174001200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:173996600-174012800	Weak transcription	Ovary	ovary
17	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
18	chr2:173996800-174001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:173997400-174000800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:173997400-174000800	Weak transcription	Psoas Muscle	Psoas
21	chr2:173997400-174000800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:173997400-174001000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:173997400-174001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:173997400-174001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:173997400-174001200	Weak transcription	Fetal Brain Male	brain
26	chr2:173997400-174003400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:173997600-174000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:173997600-174001600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:173998000-174001400	Weak transcription	Fetal Brain Female	brain
30	chr2:173998400-174000800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:173998800-174002800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:173999200-174000800	Enhancers	NHDF-Ad	bronchial
33	chr2:173999200-174001000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:173999200-174001600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:173999200-174001800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:173999200-174002000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:173999200-174002200	Enhancers	Dnd41	blood
38	chr2:173999400-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:173999400-174000800	Enhancers	Osteobl	bone
40	chr2:173999400-174001000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:173999400-174001200	Enhancers	Primary T cells from cord blood	blood
42	chr2:173999400-174001600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:173999400-174001600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:173999400-174002000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:173999400-174002200	Enhancers	HMEC	breast
46	chr2:173999400-174003000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173999600-174001800	Enhancers	Colon Smooth Muscle	Colon
48	chr2:173999600-174002000	Enhancers	NHLF	lung
49	chr2:173999800-174000800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:173999800-174000800	Weak transcription	Primary T cells fromperipheralblood	blood

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