Variant report

Variant	rs60616956
Chromosome Location	chr1:183993839-183993840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:183993826..183996650-chr1:184457507..184459731,2	K562	blood:
2	chr1:183993100..183996094-chr1:184020312..184022117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55734904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57744980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59701007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60210878	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60591205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131000	0.91[AMR][1000 genomes]
rs74131001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132770	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132775	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132776	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133804	1.00[AFR][1000 genomes];1.00[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183985600-184002800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:183986200-184001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:183988400-184003200	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:183988400-184003400	Enhancers	Brain Substantia Nigra	brain
5	chr1:183989000-183994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:183989000-183994200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:183989000-183994400	Weak transcription	Fetal Brain Female	brain
8	chr1:183989200-183997400	Enhancers	Brain Hippocampus Middle	brain
9	chr1:183989200-183999600	Enhancers	Brain Anterior Caudate	brain
10	chr1:183989600-183995800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:183989600-183998600	Enhancers	Colon Smooth Muscle	Colon
12	chr1:183989600-184000000	Enhancers	Fetal Heart	heart
13	chr1:183989800-183995600	Enhancers	Fetal Stomach	stomach
14	chr1:183990200-183994200	Enhancers	K562	blood
15	chr1:183990200-183994400	Weak transcription	Right Ventricle	heart
16	chr1:183990400-183995200	Enhancers	Fetal Kidney	kidney
17	chr1:183990400-183998200	Enhancers	Fetal Lung	lung
18	chr1:183990800-183994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:183990800-183995000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:183991400-183994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:183991800-183994200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:183992000-183994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:183992600-183994000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:183992600-183994000	Weak transcription	Pancreas	Pancrea
25	chr1:183992600-183994200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:183992600-183994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:183992600-183994200	Weak transcription	Right Atrium	heart
28	chr1:183992600-183994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:183992600-183998400	Weak transcription	Left Ventricle	heart
30	chr1:183992800-183994000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:183992800-183994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:183992800-183994000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:183992800-183994000	Weak transcription	Psoas Muscle	Psoas
34	chr1:183992800-183994000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:183992800-183994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:183992800-183994000	Weak transcription	HSMMtube	muscle
37	chr1:183992800-183994200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:183992800-183994200	Weak transcription	Fetal Brain Male	brain
39	chr1:183992800-183995000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:183992800-183997600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:183992800-184005200	Weak transcription	Gastric	stomach
42	chr1:183993000-183994000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:183993000-183994000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:183993000-183994000	Weak transcription	NHDF-Ad	bronchial
45	chr1:183993000-183995200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:183993000-183995200	Enhancers	NHLF	lung
47	chr1:183993200-183994200	Enhancers	Osteobl	bone
48	chr1:183993200-183995000	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:183993400-183994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:183993600-183995200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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