Variant report

Variant	rs7559230
Chromosome Location	chr2:11605566-11605567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11483291..11485571-chr2:11604286..11606431,2	MCF-7	breast:
2	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
3	chr2:11604255..11606398-chr2:11886112..11888104,2	K562	blood:
4	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
5	chr2:11604369..11605890-chr2:11610890..11612437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	1.00[EUR][1000 genomes]
rs59554925	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61358269	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[EUR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7598673	1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11603200-11605600	Enhancers	Spleen	Spleen
2	chr2:11603800-11605800	Enhancers	Fetal Heart	heart
3	chr2:11604200-11605600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:11604400-11606200	Flanking Active TSS	Dnd41	blood
5	chr2:11604400-11606600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:11604400-11607000	Active TSS	Ovary	ovary
7	chr2:11604400-11607000	Active TSS	Psoas Muscle	Psoas
8	chr2:11604600-11606800	Active TSS	Brain Angular Gyrus	brain
9	chr2:11604600-11607200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:11604800-11605600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:11604800-11605600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:11604800-11605600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:11604800-11605800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:11604800-11605800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:11604800-11605800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:11604800-11605800	Flanking Active TSS	Hela-S3	cervix
17	chr2:11604800-11606800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:11604800-11606800	Active TSS	Right Ventricle	heart
19	chr2:11604800-11607200	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:11605000-11605600	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:11605000-11605800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:11605000-11605800	Flanking Active TSS	Liver	Liver
23	chr2:11605000-11605800	Flanking Active TSS	HMEC	breast
24	chr2:11605000-11605800	Flanking Active TSS	Osteobl	bone
25	chr2:11605000-11606000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:11605000-11606000	Flanking Active TSS	HUVEC	blood vessel
27	chr2:11605000-11606600	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:11605000-11606800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:11605000-11606800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:11605000-11606800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:11605000-11606800	Active TSS	Right Atrium	heart
32	chr2:11605000-11607000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:11605000-11607000	Active TSS	Brain Anterior Caudate	brain
34	chr2:11605000-11607000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:11605000-11607200	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:11605200-11605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:11605200-11605600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:11605200-11605600	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr2:11605200-11605600	Flanking Active TSS	Fetal Lung	lung
40	chr2:11605200-11605600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:11605200-11605600	Flanking Active TSS	HSMM	muscle
42	chr2:11605200-11605600	Flanking Active TSS	NHEK	skin
43	chr2:11605200-11605800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:11605200-11605800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:11605200-11605800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:11605200-11605800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr2:11605200-11605800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr2:11605200-11605800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:11605200-11606600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:11605200-11606600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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