Variant report

Variant	rs60202027
Chromosome Location	chr15:34517466-34517467
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:34516865-34517587	GM12878	blood:	n/a	n/a
2	TBP	chr15:34515995-34517560	K562	blood:	n/a	n/a
3	ATF3	chr15:34516771-34517488	A549	lung:	n/a	n/a
4	GABPA	chr15:34516850-34517609	HL-60	blood:	n/a	n/a
5	TAF1	chr15:34516009-34517490	K562	blood:	n/a	n/a
6	RAD21	chr15:34516948-34517513	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:34516757-34517591	HL-60	blood:	n/a	n/a
8	TBP	chr15:34516910-34517599	GM12878	blood:	n/a	n/a
9	TAF1	chr15:34516655-34517634	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:34516850-34517543	K562	blood:	n/a	n/a
11	MAFK	chr15:34516409-34517529	K562	blood:	n/a	chr15:34516986-34517000 chr15:34516987-34516997 chr15:34516987-34516996 chr15:34516985-34517001
12	POLR2A	chr15:34516794-34517543	HL-60	blood:	n/a	n/a
13	ELF1	chr15:34516876-34517540	A549	lung:	n/a	n/a
14	ATF3	chr15:34516867-34517484	A549	lung:	n/a	n/a
15	POLR2A	chr15:34516285-34517846	HepG2	liver:	n/a	n/a
16	MAX	chr15:34515979-34517763	A549	lung:	n/a	n/a
17	YY1	chr15:34516847-34517552	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:34516906-34517537	HUVEC	blood vessel:	n/a	n/a
19	TBP	chr15:34516866-34517490	H1-hESC	embryonic stem cell:	n/a	n/a
20	GATA3	chr15:34516759-34517712	A549	lung:	n/a	n/a
21	POLR2A	chr15:34516845-34517617	HUVEC	blood vessel:	n/a	n/a
22	CBX3	chr15:34516868-34517561	HCT-116	colon:	n/a	n/a
23	TEAD4	chr15:34516804-34517530	K562	blood:	n/a	n/a
24	POLR2A	chr15:34516847-34517620	Hela-S3	cervix:	n/a	n/a
25	MAX	chr15:34516916-34517550	SK-N-SH	brain:	n/a	n/a
26	HMGN3	chr15:34517080-34517480	K562	blood:	n/a	n/a
27	EP300	chr15:34516779-34517586	A549	lung:	n/a	chr15:34517209-34517216
28	JUND	chr15:34516432-34517476	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
29	CBX3	chr15:34516748-34517475	HCT-116	colon:	n/a	n/a
30	JUND	chr15:34516896-34517525	H1-hESC	embryonic stem cell:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
31	POLR2A	chr15:34516868-34517482	K562	blood:	n/a	n/a
32	TAF1	chr15:34516854-34517698	ECC-1	luminal epithelium:	n/a	n/a
33	SIX5	chr15:34516301-34517626	A549	lung:	n/a	n/a
34	STAT5A	chr15:34516797-34517501	GM12878	blood:	n/a	chr15:34517120-34517128
35	TAF1	chr15:34516135-34517667	A549	lung:	n/a	n/a
36	POU2F2	chr15:34516923-34517513	GM12891	blood:	n/a	n/a
37	SMC3	chr15:34516936-34517722	Hela-S3	cervix:	n/a	n/a
38	RFX5	chr15:34516906-34517502	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:34516932-34517564	GM12891	blood:	n/a	n/a
40	TBP	chr15:34516922-34517481	HepG2	liver:	n/a	n/a
41	SMC3	chr15:34516926-34517523	K562	blood:	n/a	n/a
42	MAX	chr15:34516860-34517505	K562	blood:	n/a	n/a
43	TAF7	chr15:34516922-34517508	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr15:34516799-34517847	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr15:34516930-34517678	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr15:34516796-34517623	GM18505	blood:	n/a	n/a
47	MAFK	chr15:34516852-34517531	Hela-S3	cervix:	n/a	chr15:34516986-34517000 chr15:34516987-34516997 chr15:34516987-34516996 chr15:34516985-34517001
48	POLR2A	chr15:34516911-34517483	HepG2	liver:	n/a	n/a
49	CHD2	chr15:34516947-34517489	GM12878	blood:	n/a	n/a
50	BCLAF1	chr15:34516795-34517527	GM12878	blood:	n/a	chr15:34517208-34517217

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
2	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
3	chr15:34516456..34519073-chr15:34530589..34533176,2	MCF-7	breast:
4	chr15:34515761..34518007-chr15:34659442..34662221,3	K562	blood:
5	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
6	chr15:34515223..34518649-chr15:34658701..34662221,4	K562	blood:
7	chr15:34516218..34520145-chr15:34531781..34533965,3	K562	blood:
8	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
9	chr15:34515788..34518726-chr15:34518893..34520736,3	K562	blood:
10	chr15:34516727..34517701-chr3:53915643..53916154,2	Hela-S3	cervix:
11	chr15:34517046..34518726-chr15:34519236..34520864,2	K562	blood:
12	chr15:34516899..34519877-chr15:34627913..34631706,5	K562	blood:
13	chr15:34516899..34519877-chr15:34629611..34631706,2	K562	blood:
14	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
15	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
16	chr15:34515594..34518445-chr15:34530011..34531536,2	K562	blood:
17	chr1:144533750..144534472-chr15:34516659..34517532,2	Hela-S3	cervix:
18	chr15:34516970..34518662-chr15:34536000..34538660,2	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
ENSG00000140199	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000113812	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11639176	0.81[EUR][1000 genomes]
rs11853022	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4329891	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587944	0.81[EUR][1000 genomes]
rs7163031	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr15:34516000-34517600	Active TSS	Brain Hippocampus Middle	brain
2	chr15:34516000-34517600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr15:34516000-34517600	Active TSS	Placenta	Placenta
4	chr15:34516000-34517600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr15:34516000-34517600	Active TSS	Stomach Smooth Muscle	stomach
6	chr15:34516000-34517800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:34516000-34517800	Active TSS	Colon Smooth Muscle	Colon
8	chr15:34516000-34517800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr15:34516000-34517800	Active TSS	Fetal Brain Female	brain
10	chr15:34516000-34518200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:34516000-34518200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:34516000-34518400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:34516000-34518400	Active TSS	Fetal Intestine Small	intestine
14	chr15:34516000-34518400	Active TSS	A549	lung
15	chr15:34516000-34518400	Active TSS	K562	blood
16	chr15:34516200-34517600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr15:34516200-34517600	Active TSS	Brain Anterior Caudate	brain
18	chr15:34516200-34517600	Active TSS	Brain Substantia Nigra	brain
19	chr15:34516200-34517800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:34516200-34517800	Active TSS	Brain Cingulate Gyrus	brain
21	chr15:34516200-34517800	Active TSS	Fetal Heart	heart
22	chr15:34516200-34517800	Active TSS	Fetal Intestine Large	intestine
23	chr15:34516200-34517800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr15:34516200-34517800	Active TSS	Small Intestine	intestine
25	chr15:34516200-34517800	Active TSS	HMEC	breast
26	chr15:34516200-34517800	Active TSS	NH-A	brain
27	chr15:34516200-34517800	Active TSS	Osteobl	bone
28	chr15:34516200-34518000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr15:34516200-34518000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr15:34516200-34518000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:34516200-34518000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:34516200-34518000	Active TSS	Esophagus	oesophagus
33	chr15:34516200-34518000	Active TSS	Fetal Kidney	kidney
34	chr15:34516200-34518000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:34516200-34518000	Active TSS	HSMMtube	muscle
36	chr15:34516200-34518200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr15:34516200-34518200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:34516200-34518200	Active TSS	Psoas Muscle	Psoas
39	chr15:34516200-34518200	Active TSS	Right Atrium	heart
40	chr15:34516200-34518200	Active TSS	NHLF	lung
41	chr15:34516200-34518400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:34516200-34518400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:34516200-34518400	Active TSS	HSMM	muscle
44	chr15:34516200-34518600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr15:34516400-34517600	Active TSS	Colonic Mucosa	Colon
46	chr15:34516400-34517800	Active TSS	Aorta	Aorta
47	chr15:34516400-34517800	Active TSS	Brain Germinal Matrix	brain
48	chr15:34516400-34517800	Active TSS	Fetal Stomach	stomach
49	chr15:34516400-34517800	Active TSS	Gastric	stomach
50	chr15:34516400-34517800	Active TSS	Stomach Mucosa	stomach

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