Variant report

Variant	rs2595380
Chromosome Location	chr2:187625351-187625352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187623050..187625745-chr2:187626685..187628956,3	K562	blood:
2	chr2:187558783..187560634-chr2:187624205..187626019,2	MCF-7	breast:
3	chr2:187623638..187625745-chr2:187626685..187628956,2	K562	blood:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10178617	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs10211436	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.80[CEU][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs2122176	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs2594701	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.89[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.89[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114944	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666589	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs7424602	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7564965	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
5	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
7	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
8	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:187611000-187628800	Weak transcription	HSMM	muscle
13	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
15	chr2:187613000-187626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:187613200-187626400	Weak transcription	NHLF	lung
17	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
18	chr2:187613400-187626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:187613400-187626600	Weak transcription	Lung	lung
20	chr2:187613400-187626600	Weak transcription	Pancreas	Pancrea
21	chr2:187613600-187626600	Weak transcription	Aorta	Aorta
22	chr2:187613800-187626200	Weak transcription	HUVEC	blood vessel
23	chr2:187613800-187626400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:187613800-187626600	Weak transcription	Fetal Lung	lung
25	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:187614000-187626200	Weak transcription	Adipose Nuclei	Adipose
27	chr2:187614000-187626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:187616800-187626400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:187617200-187626200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:187617200-187626400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:187617200-187626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:187617400-187626400	Weak transcription	Fetal Brain Male	brain
33	chr2:187617600-187627800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:187619400-187625600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:187619400-187626200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:187619400-187626400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:187619400-187626400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:187619400-187626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:187619400-187626600	Weak transcription	Fetal Brain Female	brain
41	chr2:187619800-187626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:187619800-187626400	Weak transcription	Placenta	Placenta
43	chr2:187620400-187626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:187620600-187626200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:187620600-187626200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:187620600-187626200	Weak transcription	Osteobl	bone
47	chr2:187621600-187626200	Weak transcription	Ovary	ovary
48	chr2:187621800-187625400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:187621800-187626200	Weak transcription	Brain Anterior Caudate	brain
50	chr2:187621800-187628800	Weak transcription	HSMMtube	muscle

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