Variant report

Variant	rs7589060
Chromosome Location	chr2:152106007-152106008
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152105316..152108235-chr2:152116830..152118343,2	K562	blood:
2	chr2:152105250..152106816-chr2:152115696..152118343,2	K562	blood:

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10184202	0.83[EUR][1000 genomes]
rs10205344	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12328963	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13421250	0.83[EUR][1000 genomes]
rs16829768	0.94[ASN][1000 genomes]
rs16829818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829897	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16829956	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16829961	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3771884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41427245	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41499848	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55843313	0.84[AFR][1000 genomes]
rs58115365	0.83[EUR][1000 genomes]
rs60501640	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60600214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753956	0.88[AFR][1000 genomes]
rs72485581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72485582	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7597358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152094400-152117000	Weak transcription	A549	lung
2	chr2:152095400-152107200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:152100000-152106200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
5	chr2:152102000-152116600	Weak transcription	Pancreas	Pancrea
6	chr2:152103400-152117600	Weak transcription	Gastric	stomach
7	chr2:152103800-152106600	ZNF genes & repeats	Fetal Lung	lung
8	chr2:152103800-152107200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
10	chr2:152104400-152106800	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr2:152104400-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
13	chr2:152104600-152106600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr2:152104600-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
16	chr2:152104800-152106600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr2:152104800-152106600	Strong transcription	Brain Hippocampus Middle	brain
18	chr2:152104800-152106600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr2:152105000-152106400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr2:152105000-152106400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr2:152105000-152106400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
22	chr2:152105000-152106400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
23	chr2:152105000-152106600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr2:152105000-152106600	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr2:152105000-152106600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr2:152105000-152106600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr2:152105000-152106800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:152105000-152107000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:152105200-152106200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr2:152105200-152106400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr2:152105200-152106400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:152105200-152106400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:152105200-152106400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr2:152105200-152106400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
35	chr2:152105200-152106400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:152105200-152106400	ZNF genes & repeats	Left Ventricle	heart
37	chr2:152105200-152106600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr2:152105200-152106600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr2:152105200-152106600	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr2:152105200-152106600	ZNF genes & repeats	Dnd41	blood
41	chr2:152105200-152106800	Strong transcription	NHDF-Ad	bronchial
42	chr2:152105200-152106800	Strong transcription	Osteobl	bone
43	chr2:152105200-152109800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:152105200-152111800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:152105400-152106400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr2:152105400-152106400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:152105400-152106400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr2:152105400-152106400	ZNF genes & repeats	Fetal Thymus	thymus
49	chr2:152105400-152106600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr2:152105400-152106600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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