Variant report

Variant	rs551260748
Chromosome Location	chr9:2623961-2623962
allele	C/T
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	TCF12	chr9:2623235-2624133	A549	lung:	n/a	chr9:2623379-2623386
2	REST	chr9:2620800-2623973	H1-neurons	neurons:	n/a	chr9:2621948-2621961 chr9:2622878-2622891 chr9:2621769-2621787 chr9:2621771-2621784 chr9:2622822-2622842
3	SP1	chr9:2623405-2624089	A549	lung:	n/a	chr9:2623626-2623647
4	POLR2A	chr9:2622073-2625205	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr9:2623936-2624131	MCF10A-Er-Src	breast:	n/a	chr9:2624031-2624042
6	SP1	chr9:2623314-2624112	A549	lung:	n/a	chr9:2623626-2623647
7	MAX	chr9:2620942-2624127	A549	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
8	RAD21	chr9:2623589-2623998	A549	lung:	n/a	n/a
9	MAZ	chr9:2620701-2624354	IMR90	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495
10	FOS	chr9:2623784-2624017	MCF10A-Er-Src	breast:	n/a	n/a
11	USF1	chr9:2623326-2623990	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
12	CEBPB	chr9:2623648-2624167	A549	lung:	n/a	chr9:2623970-2623983
13	MXI1	chr9:2619904-2624722	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr9:2623681-2624674	A549	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2623970-2623983 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
15	SIN3A	chr9:2620917-2624227	H1-hESC	embryonic stem cell:	n/a	chr9:2621427-2621438 chr9:2623544-2623553 chr9:2621915-2621924
16	MAX	chr9:2623030-2624015	A549	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
17	FOS	chr9:2623755-2624100	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:2623778-2624074	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr9:2622993-2624051	A549	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
20	TEAD4	chr9:2623929-2624374	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOSL2	chr9:2623541-2624166	A549	lung:	n/a	n/a
22	USF2	chr9:2623313-2624030	GM12878	blood:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
23	CEBPB	chr9:2623740-2624029	IMR90	lung:	n/a	chr9:2623970-2623983
24	MAX	chr9:2623325-2624292	H1-hESC	embryonic stem cell:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
25	WRNIP1	chr9:2623022-2623994	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2622798..2625667-chr9:2640741..2642429,2	K562	blood:
2	chr9:2620987..2624573-chr9:2639977..2643677,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236404	TF binding region
ENSG00000236404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1029876	chr9:2526760-2633562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv892069	chr9:2600836-2631738	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv892070	chr9:2610307-2633921	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv892071	chr9:2618969-2626031	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv892073	chr9:2620592-2627365	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527298	chr9:2621030-2631092	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv892074	chr9:2623615-2629776	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2619800-2624000	Active TSS	Ovary	ovary
2	chr9:2620000-2624000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:2620000-2624200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:2620600-2624000	Active TSS	Right Atrium	heart
5	chr9:2620600-2624200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:2620800-2624000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:2620800-2624000	Active TSS	Fetal Kidney	kidney
8	chr9:2620800-2624400	Active TSS	Right Ventricle	heart
9	chr9:2621000-2624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr9:2621000-2624000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:2621000-2624200	Active TSS	Aorta	Aorta
12	chr9:2621000-2624200	Active TSS	Left Ventricle	heart
13	chr9:2621400-2624000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:2621400-2624000	Active TSS	Fetal Brain Male	brain
15	chr9:2621400-2624200	Active TSS	Pancreas	Pancrea
16	chr9:2621400-2624800	Active TSS	Stomach Smooth Muscle	stomach
17	chr9:2622200-2624000	Flanking Active TSS	Liver	Liver
18	chr9:2623000-2624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:2623000-2624000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:2623000-2624000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr9:2623000-2624000	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr9:2623000-2624200	Flanking Active TSS	HMEC	breast
23	chr9:2623000-2624400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr9:2623000-2625000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr9:2623000-2625200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr9:2623200-2624200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:2623200-2624200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:2623400-2624000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:2623400-2624000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr9:2623400-2624000	Active TSS	Rectal Smooth Muscle	rectum
31	chr9:2623400-2624200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr9:2623400-2624200	Flanking Active TSS	Fetal Heart	heart
33	chr9:2623400-2624200	Bivalent/Poised TSS	GM12878-XiMat	blood
34	chr9:2623400-2624400	Transcr. at gene 5' and 3'	Dnd41	blood
35	chr9:2623600-2624000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr9:2623600-2624000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:2623600-2624200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:2623600-2624200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr9:2623600-2624200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr9:2623600-2624200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr9:2623600-2626600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:2623800-2624000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr9:2623800-2624000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:2623800-2624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:2623800-2624000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
46	chr9:2623800-2624000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:2623800-2624000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:2623800-2624000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr9:2623800-2624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:2623800-2624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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