Variant report

Variant	rs4664079
Chromosome Location	chr2:152978284-152978285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152957588..152960335-chr2:152975953..152978509,2	K562	blood:
2	chr2:152975782..152978674-chr2:152980584..152983578,3	K562	blood:
3	chr2:152975782..152978627-chr2:152980580..152983578,3	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10178907	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10184862	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11693948	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612031	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12617696	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768650	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820702	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664082	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664531	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4664534	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6740224	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152956200-152978600	Weak transcription	Aorta	Aorta
2	chr2:152957200-152979400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
4	chr2:152969200-152978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:152969400-152989000	Weak transcription	HepG2	liver
6	chr2:152970000-152990800	Weak transcription	Stomach Mucosa	stomach
7	chr2:152970200-153003000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:152970800-152981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:152971000-152978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
11	chr2:152971400-153002200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:152971800-152980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:152972000-152978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:152972800-152991000	Weak transcription	Gastric	stomach
15	chr2:152974000-152980000	Weak transcription	HSMM	muscle
16	chr2:152974200-152980000	Weak transcription	Fetal Kidney	kidney
17	chr2:152974200-153001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
19	chr2:152974800-153002000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:152974800-153003800	Weak transcription	NHEK	skin
21	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
22	chr2:152975000-152987800	Weak transcription	Right Ventricle	heart
23	chr2:152975000-153003200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:152975000-153003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:152975000-153005400	Weak transcription	Brain Germinal Matrix	brain
26	chr2:152975200-152990000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:152975400-152982400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:152975400-152988800	Weak transcription	A549	lung
29	chr2:152975600-152982400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:152975600-152982600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:152975600-152986600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:152975800-152982200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:152975800-152982400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:152975800-152982400	Strong transcription	Liver	Liver
35	chr2:152975800-152982400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:152975800-152982800	Strong transcription	Placenta	Placenta
37	chr2:152975800-152983800	Strong transcription	Primary T cells from cord blood	blood
38	chr2:152976000-152979600	Strong transcription	Fetal Thymus	thymus
39	chr2:152976000-152982200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:152976000-152982400	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:152976000-152982600	Strong transcription	Adipose Nuclei	Adipose
42	chr2:152976000-152986600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:152976200-152978800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr2:152976200-152979400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:152976200-153010200	Weak transcription	Fetal Brain Male	brain
47	chr2:152976200-153013400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:152976400-152978600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:152976400-152979000	Strong transcription	Osteobl	bone
50	chr2:152976400-152981000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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