Variant report

Variant	rs4590138
Chromosome Location	chr5:60636828-60636829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60635270..60637108-chr5:60652911..60655851,2	K562	blood:
2	chr5:60634969..60638918-chr5:60646594..60650341,4	K562	blood:
3	chr5:60636191..60639520-chr5:60639780..60644694,5	K562	blood:

Variant related genes	Relation type
ENSG00000251682	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514910	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12517679	0.82[ASN][1000 genomes]
rs12519658	0.85[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12520195	0.86[ASN][1000 genomes]
rs16891822	0.86[ASN][1000 genomes]
rs16891983	0.86[ASN][1000 genomes]
rs16892286	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16892307	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16892374	0.85[ASN][1000 genomes]
rs35102220	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35432189	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56885035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57709834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7445500	1.00[ASN][1000 genomes]
rs7717030	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv598319	chr5:60626957-60636828	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60630800-60640000	Weak transcription	Aorta	Aorta
2	chr5:60631000-60637000	Weak transcription	Esophagus	oesophagus
3	chr5:60631000-60644000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60631400-60637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:60631400-60637000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:60631400-60637000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:60631400-60637000	Weak transcription	Colonic Mucosa	Colon
8	chr5:60631400-60637800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:60631400-60637800	Weak transcription	NHEK	skin
10	chr5:60631400-60639400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:60631400-60639400	Weak transcription	Small Intestine	intestine
12	chr5:60631400-60640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:60631400-60640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:60631400-60640400	Weak transcription	NH-A	brain
15	chr5:60631400-60640800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:60631400-60642200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
18	chr5:60631600-60637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:60631600-60637200	Weak transcription	Osteobl	bone
20	chr5:60631600-60638000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:60631600-60638000	Weak transcription	Hela-S3	cervix
22	chr5:60631600-60639000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:60632000-60637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:60632000-60637000	Weak transcription	Right Atrium	heart
25	chr5:60632000-60639800	Weak transcription	Pancreas	Pancrea
26	chr5:60632000-60640000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:60632000-60648600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:60632200-60639800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:60632200-60640200	Weak transcription	Fetal Brain Female	brain
30	chr5:60632400-60639800	Weak transcription	Left Ventricle	heart
31	chr5:60632600-60637200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:60633000-60639800	Weak transcription	Psoas Muscle	Psoas
33	chr5:60633200-60638200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:60633200-60639800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:60633200-60640200	Weak transcription	Fetal Stomach	stomach
36	chr5:60633400-60639400	Weak transcription	Fetal Intestine Large	intestine
37	chr5:60633600-60638000	Weak transcription	HSMM	muscle
38	chr5:60633600-60643200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:60633800-60642400	Enhancers	A549	lung
40	chr5:60634200-60637200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:60634400-60637200	Enhancers	Brain Hippocampus Middle	brain
42	chr5:60634400-60640800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:60635200-60639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:60635400-60637600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:60635600-60637200	Enhancers	Liver	Liver
46	chr5:60635600-60639400	Enhancers	HUVEC	blood vessel
47	chr5:60635800-60637200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:60635800-60637400	Enhancers	Brain Substantia Nigra	brain
49	chr5:60635800-60638400	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:60636000-60637200	Enhancers	Brain Angular Gyrus	brain

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