Variant report

Variant	rs588436
Chromosome Location	chr2:33622018-33622019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33612532..33615495-chr2:33620487..33623210,2	MCF-7	breast:
2	chr2:33621778..33623925-chr2:33625071..33627844,2	K562	blood:
3	chr2:33612365..33616545-chr2:33619739..33622909,3	K562	blood:
4	chr2:33258883..33261286-chr2:33620166..33622168,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1093405	0.82[EUR][1000 genomes]
rs55908161	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs589403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652230	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817204	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[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:44 , 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	chr2:33613000-33623000	Weak transcription	Right Ventricle	heart
11	chr2:33613400-33625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:33613400-33630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:33613600-33622200	Weak transcription	Ovary	ovary
14	chr2:33613600-33623000	Weak transcription	NH-A	brain
15	chr2:33614400-33623200	Weak transcription	NHLF	lung
16	chr2:33614600-33628600	Weak transcription	Aorta	Aorta
17	chr2:33615400-33622800	Weak transcription	Liver	Liver
18	chr2:33615400-33623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:33615400-33623400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33616400-33623000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:33616400-33626800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:33616800-33622800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:33617000-33625200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:33617200-33622200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:33617200-33625000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:33617400-33623000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:33617800-33625400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:33617800-33627400	Weak transcription	Fetal Stomach	stomach
29	chr2:33618200-33622800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:33620200-33623800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:33620600-33622600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:33620600-33625200	Weak transcription	Fetal Lung	lung
33	chr2:33621000-33622400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:33621400-33622600	Enhancers	Adipose Nuclei	Adipose
35	chr2:33621400-33625800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:33621600-33623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:33621600-33625400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:33621800-33622200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:33621800-33622200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:33621800-33622400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:33621800-33623000	Weak transcription	NHDF-Ad	bronchial
42	chr2:33622000-33622200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:33622000-33624400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:33622000-33625000	Strong transcription	Osteobl	bone

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