Variant report

Variant	rs1396106
Chromosome Location	chr2:72981916-72981917
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72981525..72984417-chr2:72997552..72999644,2	MCF-7	breast:
2	chr2:72973191..72975509-chr2:72979303..72982247,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10211019	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1027848	0.81[EUR][1000 genomes]
rs10496186	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10865393	0.81[EUR][1000 genomes]
rs11126385	0.85[EUR][1000 genomes]
rs11684985	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11894160	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622275	0.81[EUR][1000 genomes]
rs12713773	0.83[AMR][1000 genomes]
rs12713774	0.82[EUR][1000 genomes]
rs12713775	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12989141	0.85[EUR][1000 genomes]
rs12996406	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13035731	0.83[AMR][1000 genomes]
rs1446895	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1995734	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048171	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2420565	0.85[EUR][1000 genomes]
rs2420881	0.81[EUR][1000 genomes]
rs2420883	0.81[EUR][1000 genomes]
rs2421095	0.82[EUR][1000 genomes]
rs4852298	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4852893	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546776	0.83[AMR][1000 genomes]
rs6546779	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6546782	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546783	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546792	0.83[AMR][1000 genomes]
rs6739002	0.85[EUR][1000 genomes]
rs6750740	0.82[EUR][1000 genomes]
rs6758431	0.81[EUR][1000 genomes]
rs6758542	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6761075	0.80[AMR][1000 genomes]
rs7420391	0.81[EUR][1000 genomes]
rs7571064	0.84[EUR][1000 genomes]
rs7580268	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7586787	0.85[EUR][1000 genomes]
rs7588602	0.85[EUR][1000 genomes]
rs7592155	0.85[EUR][1000 genomes]
rs7603797	0.85[EUR][1000 genomes]
rs925146	0.81[EUR][1000 genomes]
rs925147	0.81[EUR][1000 genomes]
rs925148	0.81[EUR][1000 genomes]
rs990569	0.97[AMR][1000 genomes];0.96[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	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1396106	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:72950000-72982400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:72971800-72982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:72972800-72982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:72973000-72982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:72973000-72982600	Weak transcription	Hela-S3	cervix
9	chr2:72974800-72982200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:72975200-72982800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:72976000-72988400	Weak transcription	Fetal Lung	lung
12	chr2:72978000-72982200	Weak transcription	Stomach Mucosa	stomach
13	chr2:72978600-72982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:72979200-72982200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:72979400-72982200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:72979400-72984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:72979600-72982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:72980000-72982400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:72980000-72982600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:72980200-72982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:72980200-72982600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:72980400-72982800	Enhancers	Fetal Intestine Large	intestine
23	chr2:72980400-72984600	Enhancers	HepG2	liver
24	chr2:72980600-72982200	Weak transcription	HMEC	breast
25	chr2:72980600-72983000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:72980800-72982400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:72980800-72983000	Enhancers	Small Intestine	intestine
28	chr2:72981000-72982200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:72981000-72982200	Weak transcription	Fetal Heart	heart
30	chr2:72981000-72982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:72981000-72982600	Weak transcription	NHEK	skin
32	chr2:72981000-72982800	Weak transcription	Right Ventricle	heart
33	chr2:72981200-72982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:72981400-73000800	Weak transcription	Pancreas	Pancrea
35	chr2:72981800-72982800	Weak transcription	Left Ventricle	heart

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