Variant report

Variant	rs13182886
Chromosome Location	chr5:41870718-41870719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:335)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr5:41870359-41870775	K562	blood:	n/a	n/a
2	YY1	chr5:41869700-41870762	ECC-1	luminal epithelium:	n/a	n/a
3	RCOR1	chr5:41869507-41871080	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr5:41870219-41871046	GM12878	blood:	n/a	n/a
5	RCOR1	chr5:41869775-41871344	K562	blood:	n/a	n/a
6	ZKSCAN1	chr5:41869745-41871053	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:41869309-41870886	IMR90	lung:	n/a	n/a
8	POLR2A	chr5:41869844-41870934	K562	blood:	n/a	n/a
9	POLR2A	chr5:41870327-41870782	SK-N-SH	brain:	n/a	n/a
10	JUND	chr5:41870162-41871047	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:41870244-41870846	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr5:41870010-41870936	K562	blood:	n/a	n/a
13	POLR2A	chr5:41870249-41870851	GM12891	blood:	n/a	n/a
14	SMARCC2	chr5:41868977-41871753	Hela-S3	cervix:	n/a	n/a
15	PAX5	chr5:41869990-41870923	GM12878	blood:	n/a	n/a
16	ATF2	chr5:41870243-41870794	GM12878	blood:	n/a	chr5:41870565-41870579
17	POLR2A	chr5:41870068-41871054	GM12892	blood:	n/a	n/a
18	GTF2F1	chr5:41869636-41871110	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:41869460-41871093	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:41870081-41870865	GM12878	blood:	n/a	n/a
21	CTCF	chr5:41870712-41870802	GM19239	blood:	n/a	n/a
22	ZEB1	chr5:41870352-41871151	GM12878	blood:	n/a	n/a
23	TAF7	chr5:41870233-41870795	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr5:41870241-41870759	GM12891	blood:	n/a	n/a
25	HMGN3	chr5:41869613-41871088	K562	blood:	n/a	n/a
26	CHD2	chr5:41870570-41870898	K562	blood:	n/a	n/a
27	POLR2A	chr5:41869613-41871573	PBDE	blood:	n/a	n/a
28	MAX	chr5:41869176-41871165	K562	blood:	n/a	n/a
29	POLR2A	chr5:41870217-41870893	HCT-116	colon:	n/a	n/a
30	NFIC	chr5:41870073-41870935	GM12878	blood:	n/a	n/a
31	TBP	chr5:41869260-41871020	K562	blood:	n/a	n/a
32	POLR2A	chr5:41869350-41870913	K562	blood:	n/a	n/a
33	HCFC1	chr5:41868929-41871750	Hela-S3	cervix:	n/a	n/a
34	FOS	chr5:41870512-41870729	MCF10A-Er-Src	breast:	n/a	n/a
35	PAX5	chr5:41870326-41870836	GM12878	blood:	n/a	n/a
36	CTCF	chr5:41870640-41870790	GM12871	blood:	n/a	n/a
37	TAF1	chr5:41869672-41870905	K562	blood:	n/a	n/a
38	TAF1	chr5:41869653-41870855	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr5:41870297-41870912	HCT-116	colon:	n/a	n/a
40	YY1	chr5:41869625-41870850	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:41869721-41870879	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:41869804-41870949	HL-60	blood:	n/a	n/a
43	GTF2F1	chr5:41870332-41870894	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:41869059-41871024	GM18951	blood:	n/a	n/a
45	TAF1	chr5:41870042-41870780	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr5:41869770-41871258	Raji	blood:	n/a	n/a
47	POLR2A	chr5:41870205-41870805	K562	blood:	n/a	n/a
48	POLR2A	chr5:41870197-41870879	GM12878	blood:	n/a	n/a
49	TRIM28	chr5:41870350-41870857	K562	blood:	n/a	n/a
50	SMC3	chr5:41869683-41871073	Hela-S3	cervix:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72523735..72524367-chr5:41870011..41870770,3	Hela-S3	cervix:
2	chr19:39420991..39421729-chr5:41870292..41870960,2	Hela-S3	cervix:
3	chr2:24306797..24307765-chr5:41870107..41870774,2	Hela-S3	cervix:
4	chr5:41870117..41870830-chr6:160114180..160114700,2	Hela-S3	cervix:
5	chr18:74533714..74534609-chr5:41869966..41870908,2	Hela-S3	cervix:
6	chr5:41870219..41871078-chr6:44355052..44355939,2	Hela-S3	cervix:
7	chr12:56551419..56552000-chr5:41870278..41870895,2	Hela-S3	cervix:
8	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
9	chr14:21572468..21572981-chr5:41870321..41871052,2	HCT-116	colon:
10	chr15:34659352..34660347-chr5:41870135..41870861,2	Hela-S3	cervix:
11	chr3:31573864..31574454-chr5:41870239..41871197,2	Hela-S3	cervix:
12	chr11:62609059..62610090-chr5:41869864..41870927,4	Hela-S3	cervix:
13	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
14	chr12:52444516..52445216-chr5:41870286..41870902,2	Hela-S3	cervix:
15	chr5:41869775..41870984-chr5:41903748..41904904,5	Hela-S3	cervix:
16	chr15:91498056..91498602-chr5:41870263..41870908,2	Hela-S3	cervix:
17	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
18	chr5:41870107..41871063-chr7:5569785..5570693,2	Hela-S3	cervix:
19	chr5:41870254..41870956-chr5:179049882..179050830,2	Hela-S3	cervix:
20	chr17:73775735..73776241-chr5:41870294..41871205,2	Hela-S3	cervix:
21	chr5:442820..443346-chr5:41870134..41870725,2	Hela-S3	cervix:
22	chr20:39657405..39657909-chr5:41870172..41871003,2	Hela-S3	cervix:
23	chr10:99052282..99052884-chr5:41870193..41871067,2	Hela-S3	cervix:
24	chr5:41864208..41872390-chr5:41920936..41926995,11	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf51-1	chr5:41870393-41870818	ENSG00000248668.1

No data

Variant related genes	Relation type
OXCT1	TF binding region
ENSG00000112096	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000264278	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000221990	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000269891	Chromatin interaction
ENSG00000198900	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000115129	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000213390	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000180104	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000130856	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10051536	1.00[CHB][hapmap]
rs10077481	1.00[CHB][hapmap]

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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41868800-41871400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:41869000-41870800	Active TSS	Fetal Intestine Small	intestine
3	chr5:41869000-41871000	Active TSS	Aorta	Aorta
4	chr5:41869000-41871000	Active TSS	Brain Angular Gyrus	brain
5	chr5:41869000-41871000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:41869000-41871000	Active TSS	Right Ventricle	heart
7	chr5:41869000-41871200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:41869200-41870800	Active TSS	Fetal Intestine Large	intestine
9	chr5:41869200-41870800	Active TSS	Left Ventricle	heart
10	chr5:41869200-41871000	Active TSS	Brain Substantia Nigra	brain
11	chr5:41869200-41871000	Active TSS	Fetal Kidney	kidney
12	chr5:41869200-41871000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:41869200-41871000	Active TSS	NHDF-Ad	bronchial
14	chr5:41869200-41871200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:41869200-41871400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:41869200-41871400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:41869400-41870800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:41869400-41870800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:41869400-41870800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:41869400-41870800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:41869400-41870800	Active TSS	Brain Cingulate Gyrus	brain
22	chr5:41869400-41870800	Active TSS	Colon Smooth Muscle	Colon
23	chr5:41869400-41870800	Active TSS	Fetal Brain Male	brain
24	chr5:41869400-41871000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:41869400-41871000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:41869400-41871000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:41869400-41871000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:41869400-41871000	Active TSS	Ovary	ovary
29	chr5:41869400-41871000	Active TSS	HSMM	muscle
30	chr5:41869400-41871000	Active TSS	HSMMtube	muscle
31	chr5:41869400-41871200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr5:41869400-41871200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:41869600-41870800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:41869600-41870800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:41869600-41870800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:41869600-41870800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:41869600-41870800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:41869600-41870800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:41869600-41870800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:41869600-41870800	Flanking Active TSS	Liver	Liver
41	chr5:41869600-41870800	Active TSS	Brain Anterior Caudate	brain
42	chr5:41869600-41870800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr5:41869600-41870800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr5:41869600-41870800	Active TSS	Fetal Heart	heart
45	chr5:41869600-41870800	Active TSS	Fetal Stomach	stomach
46	chr5:41869600-41870800	Active TSS	Gastric	stomach
47	chr5:41869600-41870800	Active TSS	Lung	lung
48	chr5:41869600-41870800	Active TSS	Psoas Muscle	Psoas
49	chr5:41869600-41870800	Active TSS	Small Intestine	intestine
50	chr5:41869600-41870800	Active TSS	Stomach Mucosa	stomach

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