Variant report

Variant	rs7579359
Chromosome Location	chr2:74455472-74455473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74454429..74456171-chr2:74459076..74461135,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12053233	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13006863	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13034587	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34481365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702462	0.84[AFR][1000 genomes]
rs7587117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
2	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3401140	chr2:74439333-74533696	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3380034	chr2:74439354-74533666	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427400-74460200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:74427400-74462000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
4	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:74433800-74461800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:74439800-74525200	Weak transcription	Fetal Brain Male	brain
7	chr2:74441000-74458600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:74441800-74458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:74441800-74466000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:74441800-74490400	Weak transcription	Fetal Brain Female	brain
11	chr2:74442400-74477400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:74442800-74465200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:74443400-74460600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:74444200-74456200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:74444800-74494200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74447200-74455800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:74447400-74455800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:74447400-74456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:74447400-74463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:74447600-74455800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:74448800-74494000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:74449000-74458400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:74449200-74465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:74449200-74470600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:74449200-74502200	Weak transcription	Spleen	Spleen
26	chr2:74449400-74460600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:74449400-74494000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:74449400-74507000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:74449600-74462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:74449800-74458000	Weak transcription	Fetal Stomach	stomach
31	chr2:74450000-74459200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:74450000-74494000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:74453000-74455600	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:74453000-74455600	Enhancers	Fetal Muscle Leg	muscle
35	chr2:74453800-74456400	Enhancers	Fetal Heart	heart
36	chr2:74453800-74465800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:74454200-74508200	Weak transcription	Ovary	ovary
38	chr2:74454400-74458200	Weak transcription	Pancreas	Pancrea
39	chr2:74454400-74466200	Weak transcription	Esophagus	oesophagus
40	chr2:74454400-74470200	Weak transcription	Gastric	stomach
41	chr2:74454400-74471800	Weak transcription	Psoas Muscle	Psoas
42	chr2:74454400-74474200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:74454600-74458200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:74454800-74462000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:74455200-74455600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:74455200-74455800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:74455400-74458800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:74455400-74464800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:74455400-74469600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:74455400-74469800	Weak transcription	Left Ventricle	heart

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