Variant report

Variant	rs256967
Chromosome Location	chr5:114937228-114937229
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	RUNX3	chr5:114937218-114938783	GM12878	blood:	n/a	chr5:114938232-114938241 chr5:114938232-114938241
2	POLR2A	chr5:114937195-114937832	GM12878	blood:	n/a	n/a
3	NFATC1	chr5:114937163-114937730	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:114936963-114939112	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:114935210-114941425	K562	blood:	n/a	n/a
6	MTA3	chr5:114937140-114937706	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:114937159-114938646	GM12892	blood:	n/a	n/a
8	RELA	chr5:114937037-114937779	GM18505	blood:	n/a	n/a
9	MXI1	chr5:114937096-114938520	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:114937157-114939286	GM12892	blood:	n/a	n/a
11	POLR2A	chr5:114936886-114939238	GM12878	blood:	n/a	n/a
12	FOXM1	chr5:114937216-114938635	GM12878	blood:	n/a	n/a
13	NFIC	chr5:114937185-114937719	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:114935155-114939265	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114877886..114879457-chr5:114935009..114937600,2	K562	blood:
2	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
3	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:

Variant related genes	Relation type
ENSG00000249249	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10055677	0.92[EUR][1000 genomes]
rs13164545	0.87[EUR][1000 genomes]
rs13186296	0.91[EUR][1000 genomes]
rs171774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187682	0.83[ASN][1000 genomes]
rs2303747	0.87[EUR][1000 genomes]
rs2559990	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs256942	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256943	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs256944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256947	0.92[EUR][1000 genomes]
rs256948	0.93[EUR][1000 genomes]
rs256949	0.92[EUR][1000 genomes]
rs256950	0.92[EUR][1000 genomes]
rs256951	0.92[EUR][1000 genomes]
rs256952	0.92[EUR][1000 genomes]
rs256953	0.92[EUR][1000 genomes]
rs256954	0.92[EUR][1000 genomes]
rs256959	0.80[ASN][1000 genomes]
rs256964	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256968	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs256969	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256976	0.81[ASN][1000 genomes]
rs256980	0.85[ASN][1000 genomes]
rs256988	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs256991	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs256993	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs256994	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs256996	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs256997	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256998	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs377290	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822579	0.91[EUR][1000 genomes]
rs387718	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs400570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs413059	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs415577	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs416234	0.81[AMR][1000 genomes]
rs424434	0.81[AMR][1000 genomes]
rs428191	0.81[AMR][1000 genomes]
rs4920967	0.90[EUR][1000 genomes]
rs698366	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs698367	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7702283	0.92[EUR][1000 genomes]
rs7702869	0.92[EUR][1000 genomes]
rs7702881	0.92[EUR][1000 genomes]
rs790824	0.81[AMR][1000 genomes]
rs790825	0.86[AMR][1000 genomes];0.96[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3344393	chr5:114937053-114938901	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
3	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix
4	chr5:114933000-114937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114935000-114937400	Enhancers	Brain Anterior Caudate	brain
6	chr5:114935200-114937400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:114935600-114937400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:114935600-114937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:114935600-114937400	Weak transcription	NHEK	skin
10	chr5:114935800-114937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:114935800-114937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:114935800-114938400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:114936000-114937400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:114936000-114937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:114936000-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114936000-114938400	Active TSS	Aorta	Aorta
17	chr5:114936200-114937400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:114936200-114937400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:114936200-114937400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:114936200-114937400	Enhancers	Stomach Mucosa	stomach
21	chr5:114936400-114937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:114936400-114937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:114936400-114937400	Weak transcription	Gastric	stomach
24	chr5:114936400-114937400	Enhancers	A549	lung
25	chr5:114936400-114938200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:114936400-114938400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:114936600-114937400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:114936600-114937600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:114936600-114938400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:114936600-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:114936600-114938400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:114936600-114938400	Active TSS	NHLF	lung
33	chr5:114936800-114937400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:114936800-114938400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114936800-114938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:114936800-114938400	Active TSS	Brain Hippocampus Middle	brain
37	chr5:114936800-114938400	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:114936800-114938400	Weak transcription	Dnd41	blood
39	chr5:114936800-114938400	Active TSS	HSMM	muscle
40	chr5:114936800-114938400	Active TSS	NH-A	brain
41	chr5:114936800-114938400	Active TSS	NHDF-Ad	bronchial
42	chr5:114936800-114938600	Active TSS	Right Atrium	heart
43	chr5:114937000-114937400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:114937000-114937400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:114937000-114937400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr5:114937000-114937400	Active TSS	Fetal Brain Male	brain
47	chr5:114937000-114937400	Weak transcription	Fetal Heart	heart
48	chr5:114937000-114937600	Flanking Active TSS	Fetal Brain Female	brain
49	chr5:114937000-114937600	Flanking Active TSS	HUVEC	blood vessel
50	chr5:114937000-114938000	Active TSS	Thymus	Thymus

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