Variant report

Variant	rs12336983
Chromosome Location	chr9:116395771-116395772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:
2	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
3	chr9:116379738..116382118-chr9:116392822..116396167,3	MCF-7	breast:
4	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
5	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
6	chr9:116395680..116398027-chr9:116408814..116410400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10217237	1.00[ASN][1000 genomes]
rs10217750	1.00[ASN][1000 genomes]
rs10217756	1.00[ASN][1000 genomes]
rs10481640	1.00[ASN][1000 genomes]
rs10817496	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981794	1.00[ASN][1000 genomes]
rs10981840	1.00[ASN][1000 genomes]
rs10981841	1.00[ASN][1000 genomes]
rs10981843	1.00[ASN][1000 genomes]
rs10981844	1.00[ASN][1000 genomes]
rs10981845	1.00[ASN][1000 genomes]
rs10981846	1.00[ASN][1000 genomes]
rs10981847	1.00[ASN][1000 genomes]
rs10981850	1.00[ASN][1000 genomes]
rs12335991	1.00[ASN][1000 genomes]
rs12338221	1.00[ASN][1000 genomes]
rs12339851	1.00[ASN][1000 genomes]
rs12344964	1.00[ASN][1000 genomes]
rs16907354	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766289	1.00[ASN][1000 genomes]
rs28709996	1.00[ASN][1000 genomes]
rs36062487	1.00[ASN][1000 genomes]
rs41276817	1.00[ASN][1000 genomes]
rs41297197	1.00[ASN][1000 genomes]
rs4348575	1.00[ASN][1000 genomes]
rs4609260	1.00[ASN][1000 genomes]
rs511561	1.00[ASN][1000 genomes]
rs530456	1.00[ASN][1000 genomes]
rs538711	1.00[ASN][1000 genomes]
rs551960	1.00[ASN][1000 genomes]
rs55916010	1.00[ASN][1000 genomes]
rs56038206	1.00[ASN][1000 genomes]
rs57989349	1.00[ASN][1000 genomes]
rs586265	1.00[ASN][1000 genomes]
rs60302610	1.00[ASN][1000 genomes]
rs608290	1.00[ASN][1000 genomes]
rs611335	1.00[ASN][1000 genomes]
rs6478012	1.00[ASN][1000 genomes]
rs6478017	1.00[ASN][1000 genomes]
rs653971	1.00[ASN][1000 genomes]
rs664850	1.00[ASN][1000 genomes]
rs670719	1.00[ASN][1000 genomes]
rs7021491	1.00[ASN][1000 genomes]
rs7033679	1.00[ASN][1000 genomes]
rs72761905	1.00[ASN][1000 genomes]
rs72761964	1.00[ASN][1000 genomes]
rs72761969	1.00[ASN][1000 genomes]
rs72761971	1.00[ASN][1000 genomes]
rs72761973	1.00[ASN][1000 genomes]
rs72761978	1.00[ASN][1000 genomes]
rs72761995	1.00[ASN][1000 genomes]
rs7867203	1.00[ASN][1000 genomes]
rs7870265	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv893749	chr9:116378759-116439749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116384200-116396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:116385000-116396400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
4	chr9:116387600-116396200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:116387800-116396800	Weak transcription	Right Ventricle	heart
6	chr9:116389600-116396400	Weak transcription	Left Ventricle	heart
7	chr9:116389800-116402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:116392600-116399000	Enhancers	Fetal Muscle Leg	muscle
9	chr9:116393000-116396600	Enhancers	NHDF-Ad	bronchial
10	chr9:116393400-116397400	Enhancers	NHLF	lung
11	chr9:116393400-116399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:116393600-116395800	Enhancers	HSMMtube	muscle
13	chr9:116393600-116396600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:116393600-116398400	Enhancers	Osteobl	bone
15	chr9:116393600-116399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:116393800-116398800	Enhancers	Fetal Stomach	stomach
17	chr9:116394200-116397200	Enhancers	Placenta	Placenta
18	chr9:116394400-116397200	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:116394400-116397600	Enhancers	Fetal Heart	heart
20	chr9:116394600-116399000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:116394800-116398400	Enhancers	HUVEC	blood vessel
22	chr9:116395000-116396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:116395000-116396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:116395000-116396200	Weak transcription	HSMM	muscle
25	chr9:116395000-116398600	Enhancers	Fetal Muscle Trunk	muscle
26	chr9:116395200-116396200	Weak transcription	Adipose Nuclei	Adipose
27	chr9:116395200-116396200	Weak transcription	Right Atrium	heart
28	chr9:116395200-116396200	Enhancers	HepG2	liver
29	chr9:116395200-116396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:116395200-116397000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:116395200-116397200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:116395200-116398800	Enhancers	Fetal Lung	lung
33	chr9:116395400-116396200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:116395400-116396800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:116395400-116397200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:116395600-116396000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:116395600-116396000	Weak transcription	Psoas Muscle	Psoas
38	chr9:116395600-116396000	Weak transcription	NH-A	brain
39	chr9:116395600-116397200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:116395600-116398000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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