Variant report

Variant	rs6725954
Chromosome Location	chr2:153193842-153193843
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	chr2:153193156..153194815-chr2:153197354..153200252,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13034665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003332	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2345878	0.83[AMR][1000 genomes]
rs35953368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035882	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4311022	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519464	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4664100	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5008216	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860423	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56111292	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56187233	0.85[AMR][1000 genomes]
rs6722740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759036	0.85[AMR][1000 genomes]
rs7583872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153191000-153194000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:153191000-153194400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:153191000-153194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:153191200-153194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr2:153191200-153194000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:153191200-153194000	Active TSS	Fetal Intestine Small	intestine
7	chr2:153191200-153194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:153191200-153194200	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:153191200-153194200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:153191200-153194200	Active TSS	Brain Substantia Nigra	brain
11	chr2:153191200-153194200	Active TSS	NHLF	lung
12	chr2:153191200-153194400	Active TSS	Fetal Brain Female	brain
13	chr2:153191200-153194600	Active TSS	Placenta	Placenta
14	chr2:153191200-153194800	Active TSS	Brain Anterior Caudate	brain
15	chr2:153191400-153194000	Bivalent/Poised TSS	HepG2	liver
16	chr2:153191400-153194400	Active TSS	Lung	lung
17	chr2:153191400-153194600	Active TSS	Brain Hippocampus Middle	brain
18	chr2:153191400-153194800	Active TSS	Brain Angular Gyrus	brain
19	chr2:153191600-153194000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153193000-153194000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:153193000-153194000	Bivalent/Poised TSS	Fetal Thymus	thymus
22	chr2:153193000-153194200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr2:153193000-153194200	Flanking Active TSS	HUVEC	blood vessel
24	chr2:153193200-153194000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:153193200-153194000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr2:153193200-153194000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:153193200-153194000	Active TSS	GM12878-XiMat	blood
28	chr2:153193200-153194000	Flanking Active TSS	NH-A	brain
29	chr2:153193200-153194200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:153193200-153194200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:153193200-153194200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:153193200-153194400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:153193200-153194400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:153193200-153194400	Flanking Active TSS	Hela-S3	cervix
35	chr2:153193200-153194600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:153193200-153195600	Weak transcription	Small Intestine	intestine
37	chr2:153193400-153194000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:153193400-153194000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:153193400-153194000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:153193400-153194000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:153193400-153194000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr2:153193400-153194000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr2:153193400-153194000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr2:153193400-153194000	Flanking Active TSS	Osteobl	bone
45	chr2:153193400-153194200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:153193400-153194200	Flanking Active TSS	Fetal Brain Male	brain
47	chr2:153193400-153194400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr2:153193400-153194600	Flanking Active TSS	A549	lung
49	chr2:153193400-153194800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:153193400-153194800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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