Variant report

Variant	rs59538849
Chromosome Location	chr9:14401087-14401088
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	SMC3	chr9:14400232-14401144	SK-N-SH	brain:	n/a	chr9:14400552-14400559 chr9:14400776-14400790
2	CTCF	chr9:14400291-14401106	A549	lung:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
3	CREB1	chr9:14400663-14401106	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:14400444-14401147	SK-N-SH	brain:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
5	CTCF	chr9:14401080-14401230	HEEpiC	esophagus:	n/a	n/a
6	CEBPB	chr9:14400455-14401157	A549	lung:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
7	NFYB	chr9:14400812-14401229	GM12878	blood:	n/a	chr9:14400922-14400936 chr9:14400924-14400934 chr9:14400922-14400937 chr9:14400924-14400934 chr9:14400922-14400935 chr9:14400922-14400937 chr9:14401143-14401153 chr9:14400921-14400933

No.	Distal block	Cell Line	Cell type
1	chr9:14399946..14402749-chr9:14405423..14407505,3	K562	blood:
2	chr9:14399946..14402059-chr9:14405423..14407406,2	K562	blood:
3	chr9:13427228..13428183-chr9:14400701..14401241,2	MCF-7	breast:
4	chr9:14314559..14316138-chr9:14400048..14402304,2	MCF-7	breast:

Variant related genes	Relation type
NFIB	TF binding region
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10481502	1.00[EUR][1000 genomes]
rs10961488	1.00[EUR][1000 genomes]
rs12338474	1.00[EUR][1000 genomes]
rs12345851	1.00[EUR][1000 genomes]
rs16931636	1.00[EUR][1000 genomes]
rs16931709	1.00[EUR][1000 genomes]
rs1819196	1.00[EUR][1000 genomes]
rs28821534	1.00[EUR][1000 genomes]
rs4740568	1.00[EUR][1000 genomes]
rs521145	1.00[EUR][1000 genomes]
rs57102067	1.00[EUR][1000 genomes]
rs7036373	1.00[EUR][1000 genomes]
rs7036460	1.00[EUR][1000 genomes]
rs73419663	1.00[EUR][1000 genomes]
rs73641908	1.00[EUR][1000 genomes]
rs73641924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv892601	chr9:14380528-14405555	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14386400-14418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:14396600-14401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14397400-14402600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:14397600-14404200	Weak transcription	Pancreas	Pancrea
5	chr9:14399800-14401200	Enhancers	Adipose Nuclei	Adipose
6	chr9:14399800-14401400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:14399800-14401400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:14400000-14401200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:14400000-14401200	Enhancers	HMEC	breast
10	chr9:14400000-14401400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:14400000-14401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:14400000-14403400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:14400200-14401200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:14400200-14401400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:14400200-14401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:14400200-14403800	Enhancers	Fetal Brain Male	brain
17	chr9:14400400-14401200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr9:14400400-14401200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:14400400-14401200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:14400400-14401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:14400400-14401400	Enhancers	HSMMtube	muscle
22	chr9:14400400-14401600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:14400600-14401600	Enhancers	HUVEC	blood vessel
24	chr9:14400600-14402200	Enhancers	Fetal Muscle Leg	muscle
25	chr9:14400600-14402800	Weak transcription	Fetal Brain Female	brain
26	chr9:14400800-14401200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr9:14400800-14401200	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr9:14400800-14401400	Bivalent Enhancer	NHDF-Ad	bronchial
29	chr9:14400800-14401800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:14400800-14403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:14400800-14404800	Weak transcription	Aorta	Aorta
32	chr9:14401000-14401200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:14401000-14401200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:14401000-14401200	Active TSS	Brain Anterior Caudate	brain
35	chr9:14401000-14401400	Enhancers	Brain Hippocampus Middle	brain
36	chr9:14401000-14401400	Enhancers	NH-A	brain
37	chr9:14401000-14401400	Enhancers	NHLF	lung
38	chr9:14401000-14401600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:14401000-14401800	Enhancers	Brain Substantia Nigra	brain
40	chr9:14401000-14402000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:14401000-14402400	Enhancers	Fetal Lung	lung
42	chr9:14401000-14403000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:14401000-14403200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:14401000-14403200	Weak transcription	Fetal Stomach	stomach
45	chr9:14401000-14403200	Weak transcription	Psoas Muscle	Psoas

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