Variant report

Variant	rs9288981
Chromosome Location	chr3:112965624-112965625
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1027550	0.81[EUR][1000 genomes]
rs1122382	0.82[EUR][1000 genomes]
rs11715146	0.91[EUR][1000 genomes]
rs12491930	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1875111	0.88[AMR][1000 genomes]
rs2649878	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4682477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814436	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61579027	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61586075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73235142	0.80[AMR][1000 genomes]
rs73235153	0.82[AMR][1000 genomes]
rs7620307	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775219	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs775230	0.91[EUR][1000 genomes]
rs9874603	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
3	chr3:112958600-112969000	Weak transcription	Spleen	Spleen
4	chr3:112960400-112965800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:112960800-112967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112961400-112969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:112961600-112966400	Weak transcription	Fetal Thymus	thymus
8	chr3:112961600-112967400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:112962000-112968200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:112962000-112968800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:112962400-112969000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:112962800-112968000	Weak transcription	Gastric	stomach
14	chr3:112962800-112972400	Weak transcription	Brain Germinal Matrix	brain
15	chr3:112963000-112968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:112963000-112969200	Weak transcription	Pancreas	Pancrea
17	chr3:112963000-112972800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:112963600-112965800	Enhancers	Stomach Smooth Muscle	stomach
19	chr3:112963600-112967200	Enhancers	Fetal Lung	lung
20	chr3:112964000-112968000	Enhancers	Fetal Kidney	kidney
21	chr3:112964000-112969000	Enhancers	HSMM	muscle
22	chr3:112964200-112968000	Enhancers	Fetal Stomach	stomach
23	chr3:112964200-112968200	Enhancers	Fetal Muscle Leg	muscle
24	chr3:112964200-112968400	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:112964200-112968800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:112964200-112968800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:112964200-112968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:112964200-112969400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:112964400-112967000	Enhancers	NHEK	skin
30	chr3:112964400-112967200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:112964400-112967400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:112964400-112967400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:112964400-112968000	Weak transcription	Lung	lung
34	chr3:112964600-112966200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:112964600-112966800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:112964600-112967000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:112964600-112967400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:112964600-112968600	Enhancers	Ovary	ovary
39	chr3:112964600-112971400	Enhancers	HSMMtube	muscle
40	chr3:112964800-112966200	Enhancers	Adipose Nuclei	Adipose
41	chr3:112964800-112966400	Weak transcription	HMEC	breast
42	chr3:112964800-112966400	Weak transcription	NHLF	lung
43	chr3:112964800-112966800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:112964800-112967200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:112964800-112967600	Enhancers	NHDF-Ad	bronchial
46	chr3:112964800-112967800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:112964800-112968600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:112965000-112966000	Enhancers	Osteobl	bone
49	chr3:112965000-112966400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:112965000-112966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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