Variant report

Variant	rs1010335
Chromosome Location	chr9:14400311-14400312
allele	A/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	FOS	chr9:14400148-14401045	HUVEC	blood vessel:	n/a	chr9:14400926-14400935
4	RAD21	chr9:14400183-14401016	SK-N-SH	brain:	n/a	chr9:14400772-14400791

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	chr9:14314653..14317255-chr9:14398408..14400956,2	MCF-7	breast:
4	chr9:14314559..14316138-chr9:14400048..14402304,2	MCF-7	breast:

Variant related genes	Relation type
NFIB	TF binding region
ENSG00000225472	Chromatin interaction
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11788403	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56237396	0.84[EUR][1000 genomes]
rs7029591	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7030092	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7043297	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72700545	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72700550	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700551	0.84[EUR][1000 genomes]
rs72700555	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72700560	0.80[ASN][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14386400-14418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:14392000-14400400	Weak transcription	Aorta	Aorta
3	chr9:14396200-14400400	Weak transcription	HSMMtube	muscle
4	chr9:14396600-14400400	Weak transcription	Ovary	ovary
5	chr9:14396600-14401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:14397000-14400600	Weak transcription	Psoas Muscle	Psoas
7	chr9:14397400-14402600	Weak transcription	Brain Germinal Matrix	brain
8	chr9:14397600-14404200	Weak transcription	Pancreas	Pancrea
9	chr9:14399000-14400400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:14399000-14400800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:14399600-14400600	Enhancers	NHLF	lung
12	chr9:14399600-14401000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:14399800-14400400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:14399800-14401000	Enhancers	Colon Smooth Muscle	Colon
15	chr9:14399800-14401200	Enhancers	Adipose Nuclei	Adipose
16	chr9:14399800-14401400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:14399800-14401400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:14400000-14400400	Enhancers	Brain Angular Gyrus	brain
19	chr9:14400000-14400400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr9:14400000-14400400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr9:14400000-14400400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr9:14400000-14400400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:14400000-14400600	Active TSS	Fetal Muscle Leg	muscle
24	chr9:14400000-14400800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:14400000-14401000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr9:14400000-14401000	Flanking Active TSS	Fetal Lung	lung
27	chr9:14400000-14401200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:14400000-14401200	Enhancers	HMEC	breast
29	chr9:14400000-14401400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:14400000-14401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:14400000-14403400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr9:14400200-14400400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:14400200-14400400	Enhancers	NHDF-Ad	bronchial
34	chr9:14400200-14400600	Active TSS	Brain Hippocampus Middle	brain
35	chr9:14400200-14400600	Enhancers	Fetal Brain Female	brain
36	chr9:14400200-14400600	Flanking Active TSS	HUVEC	blood vessel
37	chr9:14400200-14400600	Active TSS	NH-A	brain
38	chr9:14400200-14400600	Enhancers	Osteobl	bone
39	chr9:14400200-14400800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:14400200-14400800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:14400200-14400800	Enhancers	Fetal Heart	heart
42	chr9:14400200-14400800	Active TSS	Right Atrium	heart
43	chr9:14400200-14400800	Enhancers	HSMM	muscle
44	chr9:14400200-14401000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:14400200-14401000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:14400200-14401000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:14400200-14401000	Enhancers	Fetal Stomach	stomach
48	chr9:14400200-14401200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:14400200-14401400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:14400200-14401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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