Variant report

Variant	rs7566327
Chromosome Location	chr2:179329209-179329210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179320916..179326007-chr2:179328334..179330318,5	K562	blood:
2	chr2:179325016..179328515-chr2:179328760..179332475,4	MCF-7	breast:
3	chr2:179320916..179324628-chr2:179328091..179329967,4	K562	blood:
4	chr2:179314249..179317479-chr2:179327619..179332634,7	K562	blood:
5	chr2:179311612..179313781-chr2:179328660..179331380,2	K562	blood:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12615980	0.91[AFR][1000 genomes]
rs16866299	1.00[YRI][hapmap]
rs6715337	1.00[YRI][hapmap]
rs6718181	1.00[YRI][hapmap]
rs6746453	0.91[AFR][1000 genomes]
rs6748202	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs72629792	0.91[AFR][1000 genomes]
rs72677224	0.91[AFR][1000 genomes]
rs72677241	0.91[AFR][1000 genomes]
rs7580575	1.00[YRI][hapmap]

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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179316800-179329400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:179316800-179329800	Weak transcription	Ovary	ovary
3	chr2:179316800-179338200	Weak transcription	Fetal Stomach	stomach
4	chr2:179316800-179338800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:179316800-179341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:179316800-179342400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:179316800-179342600	Weak transcription	Aorta	Aorta
8	chr2:179316800-179342800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:179317000-179342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:179317200-179342800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:179317400-179341200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:179317400-179341600	Weak transcription	GM12878-XiMat	blood
13	chr2:179317800-179338200	Weak transcription	Osteobl	bone
14	chr2:179318000-179332400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:179318000-179334200	Weak transcription	Fetal Kidney	kidney
16	chr2:179318000-179342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:179320800-179329400	Weak transcription	NH-A	brain
18	chr2:179321200-179329400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:179321200-179342400	Weak transcription	HSMM	muscle
20	chr2:179321200-179342400	Weak transcription	HSMMtube	muscle
21	chr2:179322800-179339000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:179323600-179329400	Weak transcription	Fetal Lung	lung
23	chr2:179324400-179329400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:179324600-179338200	Weak transcription	Fetal Brain Male	brain
25	chr2:179325000-179338800	Weak transcription	Left Ventricle	heart
26	chr2:179325200-179332200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:179325600-179342000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:179325800-179338800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:179326200-179342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:179326200-179342400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:179326200-179342600	Weak transcription	Primary T cells from cord blood	blood
32	chr2:179327000-179342400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:179327200-179341800	Weak transcription	NHLF	lung
34	chr2:179327200-179342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:179327400-179338200	Weak transcription	Right Ventricle	heart
36	chr2:179327400-179341800	Weak transcription	HUVEC	blood vessel
37	chr2:179327800-179332400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:179327800-179338800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:179328200-179342600	Weak transcription	Fetal Thymus	thymus
40	chr2:179328200-179342600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:179328400-179335200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:179328800-179330600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:179328800-179330800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:179328800-179335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:179329000-179329600	Strong transcription	Primary B cells from cord blood	blood
46	chr2:179329000-179333000	Strong transcription	Liver	Liver
47	chr2:179329000-179335200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:179329000-179335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:179329200-179330000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:179329200-179330000	Strong transcription	Fetal Brain Female	brain

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