Variant report

Variant	rs13032851
Chromosome Location	chr2:58395670-58395671
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	CTCF	chr2:58395640-58395790	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:58381634-58396003	K562	blood:	n/a	n/a
3	POLR2A	chr2:58395366-58395900	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58273167..58274943-chr2:58395167..58397109,2	K562	blood:

Variant related genes	Relation type
FANCL	TF binding region
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10184957	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11903212	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616896	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12624152	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713376	0.99[EUR][1000 genomes]
rs12988249	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13006005	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13023405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13410228	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13422760	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404459	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404460	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34335951	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34556232	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35341336	1.00[AFR][1000 genomes]
rs35773188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35925771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771222	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55809167	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57267169	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61746304	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6709533	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6714952	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6752935	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7558066	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7561771	0.91[EUR][1000 genomes];0.87[ASN][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:79 , 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	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
12	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
13	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:58382600-58395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:58382600-58400200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:58382600-58400400	Weak transcription	Gastric	stomach
17	chr2:58382800-58395800	Weak transcription	Lung	lung
18	chr2:58382800-58398800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:58382800-58398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:58382800-58399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:58383000-58415600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:58383200-58398800	Weak transcription	Esophagus	oesophagus
23	chr2:58383200-58415000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:58385000-58421200	Weak transcription	Left Ventricle	heart
25	chr2:58385200-58398200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:58385200-58424600	Weak transcription	Ovary	ovary
27	chr2:58385400-58400400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:58387800-58396600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:58388400-58398200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:58388600-58397400	Weak transcription	Brain Anterior Caudate	brain
31	chr2:58388800-58397600	Weak transcription	Fetal Brain Female	brain
32	chr2:58388800-58401800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:58388800-58437400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:58389000-58395800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:58389000-58398000	Weak transcription	HSMM	muscle
36	chr2:58389000-58423200	Weak transcription	NHLF	lung
37	chr2:58389200-58397600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:58389400-58397000	Weak transcription	Primary B cells from cord blood	blood
39	chr2:58389600-58431000	Weak transcription	HUVEC	blood vessel
40	chr2:58389800-58396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:58389800-58397400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:58389800-58421000	Weak transcription	K562	blood
43	chr2:58390000-58397400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:58390000-58399000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:58390200-58396400	Weak transcription	Fetal Lung	lung
46	chr2:58390200-58421200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:58390400-58400800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:58390600-58397400	Weak transcription	HepG2	liver
49	chr2:58390600-58398800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:58390800-58395800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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