Variant report

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168874321..168876639-chr1:168878574..168880199,2	K562	blood:
2	chr1:168810232..168812979-chr1:168875337..168877595,2	MCF-7	breast:
3	chr1:168875686..168878179-chr1:168887956..168889828,4	MCF-7	breast:
4	chr1:168875687..168879217-chr1:168890314..168893830,4	MCF-7	breast:
5	chr1:168740071..168742084-chr1:168874294..168876430,2	MCF-7	breast:
6	chr1:168847706..168850516-chr1:168873676..168876740,3	MCF-7	breast:
7	chr1:168875296..168877977-chr1:169036497..169038451,2	MCF-7	breast:
8	chr1:168869501..168872065-chr1:168874291..168877182,3	MCF-7	breast:
9	chr1:168875863..168876810-chr1:168908608..168909328,3	MCF-7	breast:
10	chr1:168873646..168880836-chr1:169073615..169079308,19	MCF-7	breast:
11	chr1:168875814..168878079-chr1:168940706..168942941,2	MCF-7	breast:
12	chr1:168872707..168877840-chr1:169073874..169079301,15	MCF-7	breast:
13	chr1:168830131..168832322-chr1:168874711..168876615,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252987	Chromatin interaction
ENSG00000143153	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12058057	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[EUR][1000 genomes]
rs12061744	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078028	1.00[EUR][1000 genomes]
rs12079471	1.00[EUR][1000 genomes]
rs12082826	1.00[EUR][1000 genomes]
rs2064472	1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs56930710	1.00[EUR][1000 genomes]
rs57257422	1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60014051	1.00[EUR][1000 genomes]
rs60151518	1.00[EUR][1000 genomes]
rs60306829	1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs6698984	1.00[EUR][1000 genomes]
rs73032097	1.00[EUR][1000 genomes]
rs73032100	1.00[EUR][1000 genomes]
rs73034203	1.00[EUR][1000 genomes]
rs73034209	1.00[EUR][1000 genomes]
rs73034218	1.00[EUR][1000 genomes]
rs73034224	1.00[EUR][1000 genomes]
rs73034238	1.00[EUR][1000 genomes]
rs73040271	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73042062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549645	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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168862400-168877000	Weak transcription	Fetal Heart	heart
2	chr1:168868400-168876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:168872800-168876600	Weak transcription	Esophagus	oesophagus
4	chr1:168873000-168876800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:168875000-168877200	Enhancers	Pancreas	Pancrea
6	chr1:168875000-168878000	Enhancers	HepG2	liver
7	chr1:168875400-168876600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:168875400-168877600	Enhancers	Stomach Mucosa	stomach
9	chr1:168875600-168876800	Enhancers	HMEC	breast
10	chr1:168875600-168877000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:168875600-168877200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:168875600-168877200	Enhancers	Small Intestine	intestine
13	chr1:168875800-168876400	Weak transcription	Fetal Lung	lung
14	chr1:168875800-168877200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:168875800-168877800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:168876000-168876800	Enhancers	NHEK	skin
17	chr1:168876200-168877400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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