Variant report

Variant	rs560448557
Chromosome Location	chr15:30261102-30261103
allele	C/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	chr15:30260515-30261409	A549	lung:	n/a	n/a
2	MAX	chr15:30260203-30261869	A549	lung:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
3	MAX	chr15:30260425-30261126	H1-hESC	embryonic stem cell:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
4	POLR2A	chr15:30261008-30261276	A549	lung:	n/a	n/a
5	MAX	chr15:30260307-30261726	A549	lung:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
6	MAX	chr15:30260440-30261636	ECC-1	luminal epithelium:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
7	POLR2A	chr15:30260534-30261426	A549	lung:	n/a	n/a
8	E2F6	chr15:30260300-30261650	A549	lung:	n/a	chr15:30260847-30260856 chr15:30261247-30261256
9	BACH1	chr15:30260917-30261293	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr15:30260775-30261151	A549	lung:	n/a	chr15:30260847-30260856
11	POLR2A	chr15:30260823-30261245	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr15:30260729-30261278	H1-neurons	neurons:	n/a	n/a
13	E2F6	chr15:30260494-30261587	H1-hESC	embryonic stem cell:	n/a	chr15:30260847-30260856 chr15:30261247-30261256
14	POLR2A	chr15:30260999-30261387	A549	lung:	n/a	n/a
15	CREB1	chr15:30260434-30261180	A549	lung:	n/a	n/a

Variant related genes	Relation type
TJP1	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	nsv903756	chr15:30220424-30281105	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1054008	chr15:30220707-30351687	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv542294	chr15:30220707-30351687	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv2751527	chr15:30245808-30605836	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3410581	chr15:30259685-30262533	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv3382913	chr15:30260010-30262333	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30259200-30262200	Active TSS	Brain Anterior Caudate	brain
2	chr15:30259600-30262000	Active TSS	Brain Angular Gyrus	brain
3	chr15:30259800-30261600	Active TSS	Brain Substantia Nigra	brain
4	chr15:30259800-30261800	Active TSS	Brain Cingulate Gyrus	brain
5	chr15:30259800-30261800	Active TSS	Brain Hippocampus Middle	brain
6	chr15:30259800-30262000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:30259800-30262600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:30260000-30261400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:30260200-30261200	Bivalent/Poised TSS	HUVEC	blood vessel
10	chr15:30260200-30261400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:30260200-30261400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
12	chr15:30260200-30261400	Bivalent/Poised TSS	NHEK	skin
13	chr15:30260200-30261600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:30260200-30261600	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr15:30260200-30261600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:30260200-30261800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:30260200-30261800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr15:30260400-30261200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:30260400-30261200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:30260400-30261200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:30260400-30261200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr15:30260400-30261400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:30260400-30261400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:30260400-30261400	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr15:30260400-30261400	Bivalent/Poised TSS	Esophagus	oesophagus
29	chr15:30260400-30261400	Active TSS	Lung	lung
30	chr15:30260400-30261400	Active TSS	Pancreas	Pancrea
31	chr15:30260400-30261400	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr15:30260400-30261600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr15:30260400-30261600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr15:30260400-30261600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:30260400-30261600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr15:30260400-30261600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr15:30260600-30261200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:30260600-30261200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:30260600-30261200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr15:30260600-30261200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
41	chr15:30260600-30261200	Active TSS	Gastric	stomach
42	chr15:30260600-30261200	Active TSS	HMEC	breast
43	chr15:30260600-30261400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr15:30260600-30261400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:30260600-30261400	Active TSS	Aorta	Aorta
46	chr15:30260600-30261400	Bivalent/Poised TSS	Left Ventricle	heart
47	chr15:30260600-30261400	Active TSS	Ovary	ovary
48	chr15:30260600-30261400	Bivalent/Poised TSS	HSMM	muscle
49	chr15:30260600-30261600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:30260600-30261600	Active TSS	Cortex derived primary cultured neurospheres	brain

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