Variant report

Variant	rs7043940
Chromosome Location	chr9:12935057-12935058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1412297	0.81[AMR][1000 genomes]
rs16929942	0.83[AMR][1000 genomes]
rs2382379	0.84[ASN][1000 genomes]
rs35270390	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56042324	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57009769	0.81[AMR][1000 genomes]
rs7029508	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7035514	0.81[AMR][1000 genomes]
rs7854690	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv613615	chr9:12830070-12947238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv613616	chr9:12922330-13018096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892576	chr9:12925921-13093345	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv466258	chr9:12928475-12968196	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv613617	chr9:12928475-12968196	Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv892577	chr9:12928475-12995112	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12933200-12936000	Enhancers	NHDF-Ad	bronchial
2	chr9:12933200-12936600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr9:12933400-12935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:12933400-12935400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:12933400-12936000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:12933400-12936200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:12933400-12936200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:12933400-12936800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:12933600-12936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:12933800-12936200	Enhancers	NHEK	skin
11	chr9:12933800-12936600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:12934000-12935200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:12934000-12935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:12934000-12936000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:12934200-12935400	Enhancers	Brain Anterior Caudate	brain
16	chr9:12934200-12936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:12934400-12935400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr9:12934800-12935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:12934800-12935800	Weak transcription	Adipose Nuclei	Adipose
20	chr9:12934800-12935800	Weak transcription	HSMM	muscle
21	chr9:12934800-12935800	Weak transcription	HSMMtube	muscle
22	chr9:12934800-12935800	Weak transcription	NHLF	lung
23	chr9:12934800-12936400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:12934800-12936600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:12934800-12938600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:12935000-12935600	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:12935000-12936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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