Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:11481545..11486787-chr2:11491378..11496218,8	MCF-7	breast:
2	chr2:11494304..11496059-chr2:11510335..11513048,2	MCF-7	breast:
3	chr2:11492972..11495915-chr2:11496036..11497554,2	MCF-7	breast:
4	chr2:11482706..11486721-chr2:11493256..11495593,5	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10170599	1.00[EUR][1000 genomes]
rs13410951	1.00[EUR][1000 genomes]
rs16857295	1.00[EUR][1000 genomes]
rs56953480	1.00[EUR][1000 genomes]
rs58092863	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61646530	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66668184	0.85[AFR][1000 genomes]
rs67998492	0.85[AFR][1000 genomes]
rs68106030	0.88[AFR][1000 genomes]
rs73175663	1.00[EUR][1000 genomes]
rs73175666	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73175691	1.00[EUR][1000 genomes]
rs73177207	1.00[EUR][1000 genomes]
rs73177217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11489000-11495600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:11489400-11496800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
6	chr2:11493600-11496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:11493600-11497400	Weak transcription	Liver	Liver
8	chr2:11494600-11498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:11494600-11498200	Enhancers	Spleen	Spleen
10	chr2:11494600-11498400	Enhancers	Fetal Intestine Small	intestine
11	chr2:11494800-11495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:11494800-11496400	Flanking Active TSS	HepG2	liver
13	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:11494800-11498800	Enhancers	Placenta	Placenta
15	chr2:11495000-11495600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:11495200-11495600	Weak transcription	Lung	lung
17	chr2:11495200-11497400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:11495400-11495800	Enhancers	Brain Substantia Nigra	brain
19	chr2:11495400-11498000	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:11495400-11498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach

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