Variant report

Variant	rs2231914
Chromosome Location	chr5:41925326-41925327
allele	A/G
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	chr5:41923310-41926130	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:41924878-41926192	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr5:41925260-41925410	GM06990	blood:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
4	MAX	chr5:41925028-41925777	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:41925300-41925450	AG04450	lung:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
6	GTF2F1	chr5:41925262-41925462	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:41924861-41926066	GM19099	blood:	n/a	n/a
8	CTCF	chr5:41925300-41925450	HUVEC	blood vessel:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
9	CTCF	chr5:41925260-41925410	AG09309	skin:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
10	STAT3	chr5:41925216-41925416	MCF10A-Er-Src	breast:	n/a	n/a
11	RELA	chr5:41924704-41926156	GM18951	blood:	n/a	n/a
12	ELF1	chr5:41925004-41925524	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr5:41925089-41925996	K562	blood:	n/a	chr5:41925801-41925809
14	NFYA	chr5:41925055-41925578	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr5:41924923-41925607	K562	blood:	n/a	n/a
16	MBD4	chr5:41924937-41925600	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:41924668-41925714	PFSK-1	brain:	n/a	n/a
18	BRCA1	chr5:41924987-41925572	GM12878	blood:	n/a	n/a
19	MAX	chr5:41924807-41926189	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:41925072-41925553	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr5:41925022-41925565	GM12878	blood:	n/a	n/a
22	RAD21	chr5:41925038-41925600	ECC-1	luminal epithelium:	n/a	chr5:41925324-41925343 chr5:41925328-41925342 chr5:41925327-41925340
23	CTCF	chr5:41925195-41925484	GM13977	blood:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
24	TAF1	chr5:41924859-41925842	GM12878	blood:	n/a	n/a
25	CTCF	chr5:41925157-41925594	MCF-7	breast:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
26	BCL3	chr5:41924887-41925746	GM12878	blood:	n/a	chr5:41925618-41925627
27	TAF1	chr5:41925110-41925575	GM12891	blood:	n/a	n/a
28	RAD21	chr5:41925171-41925555	GM12878	blood:	n/a	chr5:41925324-41925343 chr5:41925328-41925342 chr5:41925327-41925340
29	ELF1	chr5:41924874-41925803	GM12878	blood:	n/a	n/a
30	CTCF	chr5:41925235-41925429	HUVEC	blood vessel:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
31	TBL1XR1	chr5:41924975-41926339	K562	blood:	n/a	n/a
32	CTCF	chr5:41925260-41925410	HCPEpiC	choroid plexus:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
33	POLR2A	chr5:41924839-41926085	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:41925051-41925963	HepG2	liver:	n/a	n/a
35	POU2F2	chr5:41924917-41925652	GM12891	blood:	n/a	n/a
36	YY1	chr5:41925103-41925909	A549	lung:	n/a	chr5:41925636-41925650
37	CTCF	chr5:41925260-41925410	Caco-2	colon:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
38	CTCF	chr5:41925260-41925410	AG09319	gingival:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
39	POLR2A	chr5:41924940-41926028	GM12878	blood:	n/a	n/a
40	CTCF	chr5:41925198-41925530	MCF-7	breast:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
41	FOXP2	chr5:41925146-41925533	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr5:41924657-41925789	PFSK-1	brain:	n/a	n/a
43	FOXA1	chr5:41925113-41925522	T-47D	breast:	n/a	n/a
44	SIN3AK20	chr5:41924833-41925806	MCF-7	breast:	n/a	n/a
45	POLR2A	chr5:41924510-41926082	Raji	blood:	n/a	n/a
46	CTCF	chr5:41925240-41925390	GM12866	blood:	n/a	chr5:41925328-41925341 chr5:41925326-41925344
47	MAX	chr5:41924938-41926233	K562	blood:	n/a	n/a
48	POLR2A	chr5:41924808-41926095	GM12891	blood:	n/a	n/a
49	YY1	chr5:41925051-41926010	GM12892	blood:	n/a	chr5:41925636-41925650
50	POLR2A	chr5:41925060-41925517	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:89988489..89989456-chr5:41925183..41925764,2	Hela-S3	cervix:
2	chr12:72057201..72057868-chr5:41925046..41925564,2	Hela-S3	cervix:
3	chr17:41561272..41561866-chr5:41925214..41925769,2	Hela-S3	cervix:
4	chr2:148778374..148778927-chr5:41925178..41925893,2	Hela-S3	cervix:
5	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
6	chr5:41925001..41925753-chr5:114961284..114961954,2	Hela-S3	cervix:
7	chr5:1523828..1524567-chr5:41925292..41925941,2	Hela-S3	cervix:
8	chr5:41924314..41927397-chr5:41938777..41942007,3	MCF-7	breast:
9	chr5:41924225..41926765-chr5:41937223..41939726,2	MCF-7	breast:
10	chr1:149859141..149859798-chr5:41924805..41925764,2	Hela-S3	cervix:
11	chr5:41864208..41872390-chr5:41920936..41926995,11	K562	blood:
12	chr5:41904182..41904989-chr5:41924735..41925458,3	Hela-S3	cervix:
13	chr5:41924840..41925398-chr5:43483933..43484621,2	Hela-S3	cervix:
14	chr11:62608643..62609927-chr5:41925312..41926323,3	Hela-S3	cervix:
15	chr5:41924992..41925898-chr7:27214490..27215147,2	Hela-S3	cervix:
16	chr5:41924171..41926713-chr5:43064683..43066902,2	K562	blood:
17	chr17:48944524..48945470-chr5:41925216..41925988,2	Hela-S3	cervix:
18	chr2:38977992..38978771-chr5:41924887..41925635,2	Hela-S3	cervix:
19	chr12:112280180..112280980-chr5:41925136..41926000,2	Hela-S3	cervix:
20	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:

Variant related genes	Relation type
FBXO4	TF binding region
ENSG00000115875	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000204406	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000067596	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000089022	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000153395	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000234608	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000257184	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000115947	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60098944	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41920400-41925400	Weak transcription	Spleen	Spleen
2	chr5:41923800-41925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:41924400-41925400	Flanking Active TSS	GM12878-XiMat	blood
4	chr5:41924400-41926800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:41924600-41926200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr5:41924600-41926200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:41924600-41926200	Active TSS	Brain Angular Gyrus	brain
8	chr5:41924600-41926400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:41924600-41926400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:41924800-41925400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:41924800-41925400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:41924800-41925800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr5:41924800-41925800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:41924800-41925800	Active TSS	Brain Germinal Matrix	brain
15	chr5:41924800-41925800	Active TSS	Colonic Mucosa	Colon
16	chr5:41924800-41925800	Active TSS	Fetal Brain Female	brain
17	chr5:41924800-41926000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:41924800-41926000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:41924800-41926000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:41924800-41926000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:41924800-41926000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:41924800-41926000	Active TSS	Aorta	Aorta
23	chr5:41924800-41926000	Active TSS	Ovary	ovary
24	chr5:41924800-41926000	Active TSS	Placenta Amnion	Placenta Amnion
25	chr5:41924800-41926000	Active TSS	Right Ventricle	heart
26	chr5:41924800-41926200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:41924800-41926200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:41924800-41926200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:41924800-41926200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:41924800-41926200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:41924800-41926200	Active TSS	Fetal Kidney	kidney
32	chr5:41924800-41926200	Active TSS	Left Ventricle	heart
33	chr5:41924800-41926200	Active TSS	Lung	lung
34	chr5:41924800-41926200	Active TSS	Pancreas	Pancrea
35	chr5:41924800-41926200	Active TSS	Psoas Muscle	Psoas
36	chr5:41924800-41926200	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr5:41924800-41926200	Active TSS	Stomach Smooth Muscle	stomach
38	chr5:41924800-41926200	Flanking Active TSS	HMEC	breast
39	chr5:41924800-41926200	Active TSS	HSMMtube	muscle
40	chr5:41924800-41926400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr5:41924800-41926400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:41924800-41926400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:41925000-41925400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:41925000-41925400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:41925000-41925400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:41925000-41925400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:41925000-41925400	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr5:41925000-41925600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:41925000-41925600	Active TSS	Fetal Brain Male	brain
50	chr5:41925000-41925600	Transcr. at gene 5' and 3'	Right Atrium	heart

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