Variant report

Variant	rs72948818
Chromosome Location	chr2:58393404-58393405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:58381634-58396003	K562	blood:	n/a	n/a
2	POLR2A	chr2:58391430-58393592	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FANCL	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs17049332	1.00[AMR][1000 genomes]
rs17049336	1.00[AMR][1000 genomes]
rs17049352	1.00[AMR][1000 genomes]
rs57334221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58150137	1.00[AMR][1000 genomes]
rs58276647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58321248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58440082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58950743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59323329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59350619	1.00[AMR][1000 genomes]
rs60949622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60987670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733307	1.00[AMR][1000 genomes]
rs72948807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948810	0.93[AFR][1000 genomes]
rs72948815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948900	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949109	1.00[AMR][1000 genomes]
rs72949121	1.00[AMR][1000 genomes]
rs72950804	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951053	1.00[AMR][1000 genomes]
rs72951061	1.00[AMR][1000 genomes]
rs72951063	1.00[AMR][1000 genomes]
rs72951079	1.00[AMR][1000 genomes]
rs72951080	1.00[AMR][1000 genomes]
rs72951097	1.00[AMR][1000 genomes]
rs72953110	1.00[AMR][1000 genomes]
rs72953112	1.00[AMR][1000 genomes]
rs72953119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953122	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579768	1.00[AMR][1000 genomes]
rs7580070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
6	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
14	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
15	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:58382600-58394000	Weak transcription	Fetal Brain Male	brain
17	chr2:58382600-58395400	Weak transcription	Pancreas	Pancrea
18	chr2:58382600-58395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:58382600-58400200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:58382600-58400400	Weak transcription	Gastric	stomach
21	chr2:58382800-58394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:58382800-58395800	Weak transcription	Lung	lung
23	chr2:58382800-58398800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:58382800-58398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:58382800-58399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:58383000-58415600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:58383200-58398800	Weak transcription	Esophagus	oesophagus
28	chr2:58383200-58415000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:58384000-58393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:58384200-58394800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:58384800-58395400	Weak transcription	Aorta	Aorta
32	chr2:58385000-58394600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:58385000-58421200	Weak transcription	Left Ventricle	heart
34	chr2:58385200-58398200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:58385200-58424600	Weak transcription	Ovary	ovary
36	chr2:58385400-58395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:58385400-58400400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:58387800-58396600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:58388200-58395600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:58388400-58395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:58388400-58398200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:58388600-58394400	Weak transcription	NH-A	brain
43	chr2:58388600-58397400	Weak transcription	Brain Anterior Caudate	brain
44	chr2:58388800-58394200	Weak transcription	GM12878-XiMat	blood
45	chr2:58388800-58397600	Weak transcription	Fetal Brain Female	brain
46	chr2:58388800-58401800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:58388800-58437400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:58389000-58393800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:58389000-58394600	Weak transcription	NHDF-Ad	bronchial
50	chr2:58389000-58395800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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