Variant report

Variant	rs1998440
Chromosome Location	chr9:14340016-14340017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10738359	0.94[ASN][1000 genomes]
rs1998441	0.94[ASN][1000 genomes]
rs4740568	1.00[ASN][1000 genomes]
rs4741363	1.00[ASN][1000 genomes]
rs7036373	1.00[ASN][1000 genomes]
rs7036460	1.00[ASN][1000 genomes]
rs932689	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv892599	chr9:14310504-14350469	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14331200-14341000	Weak transcription	Psoas Muscle	Psoas
2	chr9:14336600-14340200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr9:14336800-14341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:14337000-14340400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:14338200-14340400	Weak transcription	Brain Germinal Matrix	brain
6	chr9:14338600-14343000	Enhancers	Fetal Brain Female	brain
7	chr9:14338800-14343600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:14339000-14341000	Weak transcription	Fetal Brain Male	brain
9	chr9:14339600-14343200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:14339600-14343400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:14339600-14344000	Enhancers	Adipose Nuclei	Adipose
12	chr9:14339800-14340200	Enhancers	HepG2	liver
13	chr9:14340000-14340400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:14340000-14340400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:14340000-14340600	Bivalent Enhancer	Osteobl	bone
16	chr9:14340000-14341000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr9:14340000-14341200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr9:14340000-14341800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr9:14340000-14344000	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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