Variant report

Variant	rs9653305
Chromosome Location	chr2:188312705-188312706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10176633	1.00[MEX][hapmap]
rs12105527	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16828899	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16828912	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs35614880	1.00[EUR][1000 genomes]
rs57389946	1.00[EUR][1000 genomes]
rs73048636	1.00[EUR][1000 genomes]
rs7608001	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs8176423	1.00[MEX][hapmap]
rs8176452	1.00[MEX][hapmap]
rs8176457	1.00[MEX][hapmap]
rs8176481	1.00[MEX][hapmap]
rs8176512	0.87[EUR][1000 genomes]
rs8176522	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8176534	0.87[EUR][1000 genomes]
rs8176545	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
9	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv1011800	chr2:188301324-188340396	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv459989	chr2:188308640-188318187	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv584037	chr2:188308640-188318187	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188307800-188313200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:188308600-188313000	Active TSS	Fetal Muscle Leg	muscle
3	chr2:188309400-188313000	Active TSS	HUVEC	blood vessel
4	chr2:188309800-188312800	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:188310000-188313000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:188310400-188313200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:188310800-188313000	Active TSS	Fetal Kidney	kidney
8	chr2:188310800-188313200	Active TSS	Brain Anterior Caudate	brain
9	chr2:188310800-188313200	Active TSS	Fetal Intestine Large	intestine
10	chr2:188310800-188313200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:188310800-188313200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:188310800-188313400	Active TSS	GM12878-XiMat	blood
13	chr2:188310800-188313600	Active TSS	Right Atrium	heart
14	chr2:188311000-188313200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:188311000-188313200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:188311000-188313400	Active TSS	Adipose Nuclei	Adipose
17	chr2:188311000-188313400	Active TSS	Stomach Smooth Muscle	stomach
18	chr2:188311200-188313000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:188311200-188313400	Active TSS	Ovary	ovary
20	chr2:188311400-188312800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr2:188311400-188313000	Active TSS	Right Ventricle	heart
22	chr2:188311400-188313200	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:188311400-188313200	Active TSS	Fetal Stomach	stomach
24	chr2:188311400-188313400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:188311400-188313400	Active TSS	Psoas Muscle	Psoas
26	chr2:188311600-188312800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:188311600-188312800	Active TSS	Fetal Lung	lung
28	chr2:188311600-188313000	Active TSS	Duodenum Mucosa	Duodenum
29	chr2:188311600-188313200	Active TSS	Brain Hippocampus Middle	brain
30	chr2:188311600-188313200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:188311600-188313200	Active TSS	Colon Smooth Muscle	Colon
32	chr2:188311600-188313400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:188311800-188312800	Active TSS	Fetal Thymus	thymus
34	chr2:188311800-188312800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr2:188311800-188312800	Enhancers	NHDF-Ad	bronchial
36	chr2:188311800-188313200	Active TSS	Fetal Intestine Small	intestine
37	chr2:188311800-188313200	Active TSS	Left Ventricle	heart
38	chr2:188311800-188313200	Active TSS	HSMMtube	muscle
39	chr2:188311800-188313400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:188311800-188313400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:188312000-188312800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:188312000-188312800	Active TSS	Primary hematopoietic stem cells	blood
43	chr2:188312000-188312800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:188312000-188312800	Active TSS	NHEK	skin
45	chr2:188312000-188313400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:188312000-188313400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:188312000-188313400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:188312000-188313400	Active TSS	Thymus	Thymus
49	chr2:188312000-188313600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:188312200-188312800	Active TSS	Primary monocytes fromperipheralblood	blood

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