Variant report

Variant	rs11889130
Chromosome Location	chr2:172414662-172414663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172401705..172405203-chr2:172412295..172415295,3	K562	blood:
2	chr2:172376132..172377971-chr2:172413004..172415455,2	MCF-7	breast:
3	chr2:172414511..172416041-chr2:172948107..172950516,2	K562	blood:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11889213	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11896718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859473	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16859480	1.00[EUR][1000 genomes]
rs16859496	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859549	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34029335	1.00[EUR][1000 genomes]
rs35421358	1.00[EUR][1000 genomes]
rs4668408	1.00[EUR][1000 genomes]
rs4668409	1.00[EUR][1000 genomes]
rs56188807	1.00[EUR][1000 genomes]
rs57826998	1.00[EUR][1000 genomes]
rs60892098	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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	esv3432564	chr2:172414156-172416054	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172386400-172419800	Weak transcription	Lung	lung
2	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:172400000-172416400	Weak transcription	Gastric	stomach
5	chr2:172410000-172415600	Weak transcription	NHEK	skin
6	chr2:172410800-172415800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:172411800-172415000	Weak transcription	K562	blood
8	chr2:172411800-172419000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:172412200-172415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:172412400-172414800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:172412400-172415600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:172412400-172416000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:172412400-172416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:172412400-172417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:172412600-172414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:172412600-172415200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:172412600-172415600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:172412600-172415600	Weak transcription	Right Ventricle	heart
19	chr2:172412600-172415600	Weak transcription	Osteobl	bone
20	chr2:172412600-172415800	Weak transcription	HUVEC	blood vessel
21	chr2:172412600-172416800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:172412600-172420000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:172412800-172415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:172412800-172415000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:172412800-172416800	Weak transcription	Ovary	ovary
26	chr2:172412800-172417200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:172412800-172417600	Weak transcription	NHDF-Ad	bronchial
28	chr2:172412800-172418800	Weak transcription	NHLF	lung
29	chr2:172412800-172421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:172412800-172421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:172413000-172415600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:172413000-172420800	Weak transcription	Aorta	Aorta
33	chr2:172413200-172416200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:172413400-172414800	Weak transcription	Fetal Lung	lung
35	chr2:172413400-172416000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:172413400-172418400	Weak transcription	Left Ventricle	heart
37	chr2:172413600-172415200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:172413600-172415400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:172413600-172415800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:172413600-172417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:172413600-172422400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:172414200-172416000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:172414200-172420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:172414400-172416000	Weak transcription	HSMMtube	muscle
45	chr2:172414400-172416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:172414400-172416200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:172414400-172416400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172414600-172415400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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