Variant report

Variant	rs60014051
Chromosome Location	chr1:168704608-168704609
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168703398..168707583-chr1:169074732..169078810,5	MCF-7	breast:
2	chr1:168704051..168704740-chr1:168956304..168957117,2	MCF-7	breast:
3	chr1:168703897..168704889-chr1:168758608..168759329,4	MCF-7	breast:
4	chr1:168701933..168707836-chr1:169074418..169079028,9	MCF-7	breast:
5	chr1:168674465..168676226-chr1:168704172..168705737,2	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10919012	1.00[EUR][1000 genomes]
rs12058057	1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[EUR][1000 genomes]
rs12061744	1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs56930710	1.00[EUR][1000 genomes]
rs57257422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60151518	1.00[EUR][1000 genomes]
rs60306829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs73032097	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040271	1.00[EUR][1000 genomes]
rs73042062	1.00[EUR][1000 genomes]
rs7549645	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168698400-168705800	Weak transcription	Left Ventricle	heart
2	chr1:168698400-168707400	Weak transcription	Aorta	Aorta
3	chr1:168699200-168706600	Weak transcription	Placenta	Placenta
4	chr1:168701000-168710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:168701800-168720400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:168703200-168708200	Enhancers	Colon Smooth Muscle	Colon
7	chr1:168703400-168706400	Enhancers	Fetal Stomach	stomach
8	chr1:168703600-168704800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:168703800-168704800	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:168704000-168705000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:168704000-168705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:168704000-168708000	Enhancers	Fetal Lung	lung
13	chr1:168704200-168704800	Enhancers	Fetal Heart	heart
14	chr1:168704200-168705400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:168704200-168706600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:168704400-168704800	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:168704400-168704800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:168704400-168705000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:168704600-168704800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:168704600-168704800	Enhancers	Right Ventricle	heart
21	chr1:168704600-168705000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:168704600-168705000	Enhancers	Gastric	stomach

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