Variant report

Variant	rs2080899
Chromosome Location	chr5:112313971-112313972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:
2	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
3	chr5:112312938..112314772-chr5:112369842..112371988,2	K562	blood:
4	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
5	chr5:112255746..112257849-chr5:112312359..112314246,3	MCF-7	breast:
6	chr5:112312686..112316155-chr5:112325860..112328052,3	K562	blood:
7	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10463645	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478101	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10515453	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1422222	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs2080898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209874	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs3733968	0.81[JPT][hapmap]
rs4309965	0.90[JPT][hapmap]
rs469716	0.81[CHB][hapmap]
rs57874459	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6594653	0.93[EUR][1000 genomes]
rs66612320	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6865320	0.83[CHB][hapmap]
rs6876686	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6879139	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6892784	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6896598	0.84[CEU][hapmap]
rs7033	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs73229015	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7733267	1.00[CHB][hapmap];1.00[JPT][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112311600-112314000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:112311600-112314200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:112311600-112314400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:112311600-112314800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:112311600-112315200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:112311800-112314000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:112311800-112314000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:112311800-112314000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112311800-112314000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:112311800-112314000	Active TSS	Stomach Mucosa	stomach
11	chr5:112311800-112314200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:112311800-112314200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:112311800-112314200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:112311800-112314200	Active TSS	Fetal Muscle Trunk	muscle
15	chr5:112311800-112314200	Active TSS	Left Ventricle	heart
16	chr5:112311800-112314200	Active TSS	Ovary	ovary
17	chr5:112311800-112314200	Active TSS	Psoas Muscle	Psoas
18	chr5:112311800-112314200	Active TSS	Right Ventricle	heart
19	chr5:112311800-112314200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr5:112311800-112314400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:112311800-112314600	Active TSS	Fetal Intestine Large	intestine
22	chr5:112311800-112314800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr5:112311800-112315000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112311800-112315200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:112312000-112314000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:112312000-112314000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:112312000-112314000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112312000-112314000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:112312000-112314000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:112312000-112314000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr5:112312000-112314000	Active TSS	Brain Angular Gyrus	brain
32	chr5:112312000-112314000	Active TSS	Brain Anterior Caudate	brain
33	chr5:112312000-112314000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:112312000-112314000	Active TSS	Colon Smooth Muscle	Colon
35	chr5:112312000-112314000	Active TSS	Duodenum Mucosa	Duodenum
36	chr5:112312000-112314000	Active TSS	Fetal Lung	lung
37	chr5:112312000-112314200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:112312000-112314200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:112312000-112314200	Active TSS	Aorta	Aorta
40	chr5:112312000-112314200	Active TSS	Brain Cingulate Gyrus	brain
41	chr5:112312000-112314200	Active TSS	Fetal Kidney	kidney
42	chr5:112312000-112314200	Active TSS	Fetal Stomach	stomach
43	chr5:112312000-112314200	Active TSS	Rectal Smooth Muscle	rectum
44	chr5:112312000-112314200	Active TSS	Small Intestine	intestine
45	chr5:112312000-112314200	Active TSS	A549	lung
46	chr5:112312000-112314200	Active TSS	Osteobl	bone
47	chr5:112312000-112314400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr5:112312000-112314400	Bivalent/Poised TSS	HepG2	liver
49	chr5:112312000-112314600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:112312000-112314600	Active TSS	NHDF-Ad	bronchial

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