Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
2	chr2:85723222..85725755-chr2:85726962..85728485,2	MCF-7	breast:
3	chr2:85724232..85726393-chr2:85765859..85767677,2	MCF-7	breast:
4	chr2:85724612..85727144-chr2:85772474..85775148,2	K562	blood:
5	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:
6	chr2:85720144..85722154-chr2:85725274..85727567,3	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12463705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12465420	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12470070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12473357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12473382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17026447	0.83[EUR][1000 genomes]
rs17792131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2028899	0.83[EUR][1000 genomes]
rs6704863	0.83[EUR][1000 genomes]
rs68055751	1.00[EUR][1000 genomes]
rs72843836	0.83[EUR][1000 genomes]
rs72843839	0.83[EUR][1000 genomes]
rs72843846	0.83[EUR][1000 genomes]
rs72844407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844409	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844426	0.93[AMR][1000 genomes];1.00[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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv979031	chr2:85709070-85727517	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85717600-85726000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:85722200-85727400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:85722600-85727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:85723600-85726000	Weak transcription	Left Ventricle	heart
5	chr2:85723800-85730600	Weak transcription	Small Intestine	intestine
6	chr2:85724000-85726000	Weak transcription	HepG2	liver
7	chr2:85724800-85725800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:85725000-85726000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:85725000-85726600	Flanking Active TSS	K562	blood
10	chr2:85725000-85728200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:85725400-85725800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:85725400-85726000	Enhancers	A549	lung
13	chr2:85725400-85726400	Enhancers	Hela-S3	cervix
14	chr2:85725600-85726000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:85725600-85727000	Enhancers	Primary B cells from cord blood	blood
16	chr2:85725600-85729200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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