Variant report

Variant	rs11634148
Chromosome Location	chr15:30029315-30029316
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	STAT3	chr15:30028724-30029337	Hela-S3	cervix:	n/a	chr15:30029200-30029207 chr15:30029054-30029063 chr15:30029055-30029064 chr15:30028842-30028854
2	FOSL2	chr15:30028696-30029346	SK-N-SH	brain:	n/a	chr15:30028999-30029010 chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029052-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064
3	SP1	chr15:30028516-30029651	A549	lung:	n/a	n/a
4	ATF3	chr15:30028722-30029354	A549	lung:	n/a	n/a
5	RXRA	chr15:30028745-30029316	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029055-30029064
6	SP1	chr15:30028619-30029385	HCT-116	colon:	n/a	n/a
7	TCF12	chr15:30026831-30029802	A549	lung:	n/a	n/a
8	TEAD4	chr15:30028749-30029331	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr15:30028698-30029346	HCT-116	colon:	n/a	n/a
10	JUND	chr15:30028709-30029408	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064 chr15:30029053-30029064
11	JUND	chr15:30028684-30029398	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064 chr15:30029053-30029064
12	USF2	chr15:30028851-30029521	Hela-S3	cervix:	n/a	n/a
13	JUND	chr15:30028738-30029398	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064 chr15:30029053-30029064
14	FOSL1	chr15:30028765-30029341	HCT-116	colon:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064
15	SIN3AK20	chr15:30028783-30029362	A549	lung:	n/a	n/a
16	GATA3	chr15:30029108-30029602	SH-SY5Y	brain:	n/a	n/a
17	NFIC	chr15:30028644-30029317	ECC-1	luminal epithelium:	n/a	n/a
18	NFIC	chr15:30028794-30029328	ECC-1	luminal epithelium:	n/a	n/a
19	RFX5	chr15:30028615-30029449	Hela-S3	cervix:	n/a	n/a
20	USF1	chr15:30028696-30029411	A549	lung:	n/a	n/a
21	FOSL1	chr15:30028629-30029423	HCT-116	colon:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064
22	SP1	chr15:30028586-30029411	A549	lung:	n/a	n/a
23	EP300	chr15:30028640-30029417	ECC-1	luminal epithelium:	n/a	chr15:30029054-30029063 chr15:30029285-30029299 chr15:30029055-30029064
24	GATA3	chr15:30028360-30029637	A549	lung:	n/a	chr15:30028453-30028464
25	GATA3	chr15:30028753-30029520	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr15:30028769-30029338	SK-N-SH	brain:	n/a	n/a
27	MAX	chr15:30028649-30029428	A549	lung:	n/a	chr15:30029054-30029063
28	TCF12	chr15:30028723-30029413	SK-N-SH	brain:	n/a	n/a
29	MYC	chr15:30028731-30029830	MCF10A-Er-Src	breast:	n/a	chr15:30029054-30029063
30	RXRA	chr15:30028722-30029334	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029055-30029064
31	EP300	chr15:30028525-30029445	A549	lung:	n/a	chr15:30029054-30029063 chr15:30029285-30029299 chr15:30029055-30029064
32	EP300	chr15:30028831-30029407	SK-N-SH	brain:	n/a	chr15:30029054-30029063 chr15:30029285-30029299 chr15:30029055-30029064
33	NR2F2	chr15:30028782-30029323	MCF-7	breast:	n/a	n/a
34	TEAD4	chr15:30028669-30029315	A549	lung:	n/a	n/a
35	FOS	chr15:30028441-30029479	HUVEC	blood vessel:	n/a	chr15:30029054-30029063 chr15:30029053-30029064 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064
36	CEBPB	chr15:30028619-30029329	A549	lung:	n/a	n/a
37	SP1	chr15:30028615-30029391	HCT-116	colon:	n/a	n/a
38	FOS	chr15:30028728-30029408	MCF10A-Er-Src	breast:	n/a	chr15:30029054-30029063 chr15:30029053-30029064 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064
39	FOSL2	chr15:30026859-30029485	A549	lung:	n/a	chr15:30028999-30029010 chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029052-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30027410-30027422 chr15:30028075-30028087 chr15:30029055-30029064
40	MAX	chr15:30028710-30029325	HCT-116	colon:	n/a	chr15:30029054-30029063
41	TEAD4	chr15:30028689-30029365	ECC-1	luminal epithelium:	n/a	n/a
42	GATA3	chr15:30028739-30029386	A549	lung:	n/a	n/a
43	MAX	chr15:30027102-30029653	A549	lung:	n/a	chr15:30029054-30029063
44	BCL3	chr15:30028643-30029543	A549	lung:	n/a	chr15:30029055-30029064 chr15:30029054-30029063 chr15:30029290-30029299
45	JUND	chr15:30028673-30029351	HCT-116	colon:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064 chr15:30029053-30029064
46	FOXM1	chr15:30028508-30029368	ECC-1	luminal epithelium:	n/a	n/a
47	JUND	chr15:30028750-30029399	HCT-116	colon:	n/a	chr15:30029054-30029063 chr15:30029055-30029063 chr15:30029055-30029062 chr15:30029054-30029064 chr15:30029055-30029064 chr15:30029053-30029064
48	GATA2	chr15:30028725-30029329	HUVEC	blood vessel:	n/a	n/a
49	MYC	chr15:30027274-30029693	A549	lung:	n/a	chr15:30029054-30029063
50	REST	chr15:30028574-30029418	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30028763..30032102-chr15:30112475..30115713,3	K562	blood:

Variant related genes	Relation type
TJP1	TF binding region
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs45449102	0.81[EUR][1000 genomes]
rs45478093	0.81[EUR][1000 genomes]
rs45537235	0.81[EUR][1000 genomes]
rs72719043	0.81[EUR][1000 genomes]
rs72719046	0.81[EUR][1000 genomes]
rs72719047	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30015000-30035000	Strong transcription	Adipose Nuclei	Adipose
2	chr15:30015600-30034800	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:30015600-30035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:30015600-30037600	Weak transcription	Small Intestine	intestine
5	chr15:30015800-30034400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:30016600-30029800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr15:30016600-30035200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
9	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
10	chr15:30016800-30035600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:30017400-30035600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:30017600-30035400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:30017600-30041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
15	chr15:30018200-30029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:30018200-30030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:30018200-30052000	Weak transcription	Gastric	stomach
18	chr15:30018400-30035800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:30019000-30031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:30019200-30035200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:30020200-30037000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
23	chr15:30021400-30032400	Weak transcription	Pancreas	Pancrea
24	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
25	chr15:30022000-30029600	Strong transcription	Brain Anterior Caudate	brain
26	chr15:30022600-30029600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr15:30023000-30032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:30023000-30032400	Weak transcription	Lung	lung
29	chr15:30023800-30029600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:30024000-30031000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:30024000-30034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:30024000-30035000	Strong transcription	Placenta	Placenta
33	chr15:30024000-30036200	Strong transcription	Fetal Intestine Large	intestine
34	chr15:30024200-30029600	Strong transcription	Brain Hippocampus Middle	brain
35	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
36	chr15:30025800-30043200	Weak transcription	NHLF	lung
37	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
39	chr15:30026200-30031400	Weak transcription	Psoas Muscle	Psoas
40	chr15:30026600-30031200	Weak transcription	Brain Substantia Nigra	brain
41	chr15:30027000-30030400	Enhancers	Hela-S3	cervix
42	chr15:30027200-30029400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:30027200-30029400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:30027200-30029400	Genic enhancers	NH-A	brain
45	chr15:30027200-30029600	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr15:30027200-30029600	Genic enhancers	HSMM	muscle
47	chr15:30027200-30029600	Genic enhancers	HSMMtube	muscle
48	chr15:30027200-30029600	Genic enhancers	Osteobl	bone
49	chr15:30027200-30030400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:30027400-30029600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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