Variant report

Variant	rs7565338
Chromosome Location	chr2:179334277-179334278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179314393..179320788-chr2:179330260..179334575,8	K562	blood:
2	chr2:179332606..179336122-chr2:179336235..179340321,5	K562	blood:
3	chr2:179332314..179335882-chr2:179342085..179345900,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000238082	Chromatin interaction
ENSG00000079150	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56043418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56197274	1.00[AMR][1000 genomes]
rs56706093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61729159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757481	0.96[AFR][1000 genomes]
rs73973116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973123	0.93[AFR][1000 genomes];1.00[AMR][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	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179316800-179338200	Weak transcription	Fetal Stomach	stomach
2	chr2:179316800-179338800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:179316800-179341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:179316800-179342400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:179316800-179342600	Weak transcription	Aorta	Aorta
6	chr2:179316800-179342800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:179317000-179342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:179317200-179342800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:179317400-179341200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:179317400-179341600	Weak transcription	GM12878-XiMat	blood
11	chr2:179317800-179338200	Weak transcription	Osteobl	bone
12	chr2:179318000-179342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:179321200-179342400	Weak transcription	HSMM	muscle
14	chr2:179321200-179342400	Weak transcription	HSMMtube	muscle
15	chr2:179322800-179339000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:179324600-179338200	Weak transcription	Fetal Brain Male	brain
17	chr2:179325000-179338800	Weak transcription	Left Ventricle	heart
18	chr2:179325600-179342000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:179325800-179338800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:179326200-179342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:179326200-179342400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:179326200-179342600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:179327000-179342400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:179327200-179341800	Weak transcription	NHLF	lung
25	chr2:179327200-179342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:179327400-179338200	Weak transcription	Right Ventricle	heart
27	chr2:179327400-179341800	Weak transcription	HUVEC	blood vessel
28	chr2:179327800-179338800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:179328200-179342600	Weak transcription	Fetal Thymus	thymus
30	chr2:179328200-179342600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:179328400-179335200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:179328800-179335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:179329000-179335200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:179329000-179335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:179329200-179334600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:179329200-179335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:179329400-179335200	Strong transcription	Fetal Lung	lung
38	chr2:179330400-179338600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:179330400-179341800	Weak transcription	NH-A	brain
40	chr2:179330400-179342000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:179330600-179338800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:179330600-179342400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:179330800-179338200	Weak transcription	Ovary	ovary
44	chr2:179330800-179342600	Weak transcription	Colonic Mucosa	Colon
45	chr2:179331200-179342800	Weak transcription	Lung	lung
46	chr2:179331600-179334400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:179331600-179334400	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:179331600-179342400	Weak transcription	Psoas Muscle	Psoas
49	chr2:179331800-179342000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:179332200-179334400	Strong transcription	Fetal Intestine Large	intestine

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