Variant report

Variant	rs817204
Chromosome Location	chr2:33618800-33618801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55908161	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs588436	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589403	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652230	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr2:33588400-33624400	Weak transcription	Gastric	stomach
2	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:33604200-33624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:33604600-33623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:33609800-33630200	Weak transcription	Fetal Heart	heart
9	chr2:33610000-33622200	Weak transcription	Left Ventricle	heart
10	chr2:33612800-33621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:33613000-33623000	Weak transcription	Right Ventricle	heart
12	chr2:33613400-33621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:33613400-33625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:33613400-33630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:33613600-33622200	Weak transcription	Ovary	ovary
16	chr2:33613600-33623000	Weak transcription	NH-A	brain
17	chr2:33614400-33623200	Weak transcription	NHLF	lung
18	chr2:33614600-33628600	Weak transcription	Aorta	Aorta
19	chr2:33615400-33622800	Weak transcription	Liver	Liver
20	chr2:33615400-33623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33615400-33623400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:33615600-33621600	Weak transcription	Osteobl	bone
23	chr2:33616400-33623000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:33616400-33626800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:33616800-33622000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:33616800-33622800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:33617000-33625200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:33617200-33621000	Weak transcription	NHDF-Ad	bronchial
29	chr2:33617200-33621400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:33617200-33622200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:33617200-33625000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:33617400-33621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:33617400-33623000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33617600-33620000	Weak transcription	Fetal Lung	lung
35	chr2:33617600-33620200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:33617800-33620600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:33617800-33621400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:33617800-33625400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:33617800-33627400	Weak transcription	Fetal Stomach	stomach
40	chr2:33618200-33622800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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