Variant report

Variant	rs2290735
Chromosome Location	chr5:9044411-9044412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11742324	1.00[CHD][hapmap];0.95[GIH][hapmap]
rs16881875	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs16881898	1.00[CHD][hapmap];0.95[GIH][hapmap]
rs16881901	1.00[CHD][hapmap];0.95[GIH][hapmap]
rs16881912	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs16881928	1.00[GIH][hapmap]
rs2388001	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs7727526	1.00[CHD][hapmap];0.95[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9035000-9046200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:9035200-9046000	Weak transcription	NHDF-Ad	bronchial
3	chr5:9035200-9046400	Weak transcription	NHEK	skin
4	chr5:9035600-9046200	Weak transcription	NH-A	brain
5	chr5:9036600-9057000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:9037400-9046000	Weak transcription	Fetal Heart	heart
7	chr5:9038000-9054400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:9038400-9049600	Weak transcription	Right Ventricle	heart
9	chr5:9038400-9056200	Weak transcription	Fetal Kidney	kidney
10	chr5:9038400-9057600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:9038800-9063600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:9039000-9044600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:9039000-9046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:9039200-9045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:9039200-9055000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:9039400-9045200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:9039600-9046600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:9040000-9044800	Strong transcription	Left Ventricle	heart
19	chr5:9040200-9050800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:9040200-9064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:9040400-9044800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:9040400-9054400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:9040600-9044600	Strong transcription	Fetal Intestine Large	intestine
24	chr5:9040600-9044800	Strong transcription	Liver	Liver
25	chr5:9040600-9045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:9040600-9046200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
28	chr5:9041600-9044800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:9041600-9044800	Strong transcription	Fetal Intestine Small	intestine
30	chr5:9041600-9044800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr5:9041600-9048000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr5:9041800-9044800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:9041800-9044800	Strong transcription	Ovary	ovary
34	chr5:9041800-9051200	Strong transcription	Fetal Stomach	stomach
35	chr5:9042200-9044800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:9042200-9066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:9042400-9046200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:9042400-9046200	Weak transcription	Lung	lung
39	chr5:9042400-9047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:9042600-9044800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:9042600-9044800	Strong transcription	Fetal Lung	lung
42	chr5:9042600-9057000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:9042800-9057400	Weak transcription	Brain Angular Gyrus	brain
44	chr5:9042800-9057400	Weak transcription	Brain Anterior Caudate	brain
45	chr5:9043000-9044800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:9043000-9046400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:9043000-9054200	Weak transcription	Esophagus	oesophagus
48	chr5:9043200-9044600	Strong transcription	Osteobl	bone
49	chr5:9043200-9057000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:9043600-9044600	Strong transcription	NHLF	lung

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