Variant report

Variant	rs7847530
Chromosome Location	chr9:110430108-110430109
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	MYC	chr9:110430058-110430236	HUVEC	blood vessel:	n/a	n/a
2	E2F6	chr9:110430066-110430180	K562	blood:	n/a	chr9:110430125-110430132 chr9:110430124-110430136 chr9:110430125-110430132 chr9:110430125-110430132

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:
2	chr9:110428302..110430698-chr9:110445518..110448185,2	K562	blood:

Variant related genes	Relation type
RNU6-996P	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12002336	1.00[CHB][hapmap]
rs12002450	0.86[ASN][1000 genomes]
rs1523779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56851714	0.86[ASN][1000 genomes]
rs7029887	0.86[ASN][1000 genomes]
rs7038818	1.00[CEU][hapmap]
rs71927920	0.86[ASN][1000 genomes]
rs7862874	0.86[EUR][1000 genomes]
rs9696581	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831683	chr9:110275212-110461288	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv893700	chr9:110365337-110451516	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv521747	chr9:110418574-110441113	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv519833	chr9:110424575-110430339	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3527128	chr9:110426581-110432429	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3527123	chr9:110426981-110432779	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2505970	chr9:110427279-110432212	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3527130	chr9:110427322-110431849	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2334140	chr9:110427479-110431525	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3527124	chr9:110427548-110431464	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3482671	chr9:110427559-110431458	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3527125	chr9:110427564-110431434	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3527126	chr9:110427570-110431386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3482673	chr9:110427593-110431426	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3527131	chr9:110427598-110431398	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3482672	chr9:110427610-110431377	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3482675	chr9:110427659-110431354	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3527127	chr9:110427669-110431353	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3482676	chr9:110427673-110431351	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3527132	chr9:110427673-110431351	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv13152	chr9:110427686-110431924	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv2655199	chr9:110428675-110431139	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110413000-110437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:110429200-110430600	Enhancers	Fetal Muscle Trunk	muscle
4	chr9:110429200-110430600	Enhancers	Fetal Muscle Leg	muscle
5	chr9:110429400-110430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:110429400-110430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:110429400-110430400	Enhancers	Fetal Lung	lung
8	chr9:110429400-110430400	Enhancers	Fetal Stomach	stomach
9	chr9:110429400-110430600	Enhancers	Brain Hippocampus Middle	brain
10	chr9:110429400-110430600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:110429600-110430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:110429600-110430200	Enhancers	Brain Cingulate Gyrus	brain
13	chr9:110429600-110430400	Enhancers	Brain Angular Gyrus	brain
14	chr9:110429600-110430400	Enhancers	HSMMtube	muscle
15	chr9:110429600-110430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:110429600-110430600	Enhancers	Adipose Nuclei	Adipose
17	chr9:110429600-110430600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:110429600-110430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:110429600-110430600	Enhancers	Brain Substantia Nigra	brain
20	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
21	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
22	chr9:110429800-110430200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:110429800-110430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:110429800-110430400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:110429800-110430400	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:110429800-110430400	Enhancers	HSMM	muscle

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