Variant report

Variant	rs5762929
Chromosome Location	chr22:29375978-29375979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29374740..29376458-chr22:29379657..29381475,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11912198	0.90[CHB][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs16987153	1.00[CEU][hapmap]
rs41341948	1.00[MKK][hapmap];0.87[YRI][hapmap]
rs5752840	0.90[JPT][hapmap]
rs5752848	0.88[ASN][1000 genomes]
rs5752850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762883	1.00[JPT][hapmap]
rs5762922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5762923	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762928	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762930	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5762931	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762932	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs5762938	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762944	0.88[ASN][1000 genomes]
rs7287755	0.90[CHB][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs7293008	0.81[MKK][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29371800-29376000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29372600-29376200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr22:29372600-29376200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr22:29373000-29376600	Enhancers	K562	blood
9	chr22:29373200-29376200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
11	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
12	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:29373800-29379000	Weak transcription	Placenta	Placenta
14	chr22:29374000-29376000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:29374000-29378600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:29374200-29376400	Enhancers	Adipose Nuclei	Adipose
17	chr22:29374200-29379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:29374200-29383000	Weak transcription	Ovary	ovary
20	chr22:29374400-29376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:29374400-29378000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:29374400-29378600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:29374400-29379200	Weak transcription	Fetal Lung	lung
24	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:29374600-29376000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:29374600-29376000	Enhancers	HSMMtube	muscle
27	chr22:29374600-29376200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:29374600-29377000	Enhancers	A549	lung
29	chr22:29374600-29378000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:29374600-29378000	Weak transcription	Stomach Mucosa	stomach
31	chr22:29374600-29378200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:29374600-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:29374600-29379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:29374600-29379200	Weak transcription	Aorta	Aorta
35	chr22:29374600-29379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:29374600-29380600	Weak transcription	Right Atrium	heart
37	chr22:29374600-29381400	Enhancers	Liver	Liver
38	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
41	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr22:29374800-29378600	Weak transcription	Fetal Heart	heart
43	chr22:29374800-29378800	Weak transcription	NHEK	skin
44	chr22:29374800-29384400	Weak transcription	Osteobl	bone
45	chr22:29375000-29377200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:29375000-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29375200-29376800	Enhancers	Fetal Kidney	kidney
48	chr22:29375200-29378800	Weak transcription	HMEC	breast
49	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
50	chr22:29375400-29376000	Enhancers	Psoas Muscle	Psoas

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