Variant report

Variant	rs5762936
Chromosome Location	chr22:29381377-29381378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29374740..29376458-chr22:29379657..29381475,2	K562	blood:
2	chr22:29381053..29382745-chr22:29384377..29385897,2	K562	blood:
3	chr22:29380991..29382745-chr22:29384341..29385877,2	K562	blood:
4	chr22:29374143..29375921-chr22:29380151..29381868,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs132531	0.95[JPT][hapmap]
rs132533	0.95[JPT][hapmap]
rs132536	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs132548	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs132561	0.84[ASN][1000 genomes]
rs2064261	0.95[JPT][hapmap]
rs2097461	0.84[JPT][hapmap]
rs2213645	0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2239815	0.84[JPT][hapmap]
rs2269577	0.84[JPT][hapmap]
rs2347788	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3788409	0.84[JPT][hapmap]
rs469990	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs469991	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4822998	0.95[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs5752809	0.84[JPT][hapmap]
rs5752812	0.84[JPT][hapmap]
rs5762795	0.83[JPT][hapmap]
rs5762874	0.95[JPT][hapmap]
rs5762881	0.95[JPT][hapmap]
rs5762882	0.95[JPT][hapmap]
rs5762942	1.00[CEU][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5997408	0.84[JPT][hapmap]
rs6005881	0.84[JPT][hapmap]
rs6005915	0.90[JPT][hapmap]
rs6519766	0.95[JPT][hapmap]
rs7287806	0.84[JPT][hapmap]
rs7287918	0.95[JPT][hapmap]
rs763073	0.84[JPT][hapmap]
rs9620841	0.95[JPT][hapmap]
rs9625619	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
3	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
4	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:29374200-29383000	Weak transcription	Ovary	ovary
7	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:29374600-29381400	Enhancers	Liver	Liver
9	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
12	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:29374800-29384400	Weak transcription	Osteobl	bone
14	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
15	chr22:29375600-29383000	Weak transcription	Left Ventricle	heart
16	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
17	chr22:29375800-29381400	Weak transcription	Fetal Intestine Small	intestine
18	chr22:29375800-29383000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:29375800-29383200	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:29375800-29383200	Weak transcription	Fetal Intestine Large	intestine
21	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29376600-29383600	Weak transcription	K562	blood
23	chr22:29376600-29384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:29378000-29383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:29378000-29385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:29378600-29381400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:29378600-29381800	Enhancers	HSMMtube	muscle
28	chr22:29378800-29381600	Enhancers	Fetal Muscle Leg	muscle
29	chr22:29378800-29384200	Weak transcription	A549	lung
30	chr22:29379000-29381800	Enhancers	Placenta	Placenta
31	chr22:29379000-29383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:29379000-29383400	Enhancers	Adipose Nuclei	Adipose
33	chr22:29379200-29381600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:29379200-29382200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:29379600-29388400	Weak transcription	Psoas Muscle	Psoas
36	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
37	chr22:29379800-29381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:29379800-29382200	Weak transcription	Fetal Kidney	kidney
39	chr22:29379800-29382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:29379800-29383000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:29379800-29383000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:29379800-29383800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:29380000-29382200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:29380000-29383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:29380000-29388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr22:29380400-29381600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:29380400-29382000	Weak transcription	Aorta	Aorta
48	chr22:29380400-29382200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr22:29380400-29382400	Weak transcription	Fetal Lung	lung
50	chr22:29380400-29382800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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