Variant report

Variant	rs5762883
Chromosome Location	chr22:29294945-29294946
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29294042..29296336-chr22:29297392..29300176,2	MCF-7	breast:
2	chr22:29289506..29292443-chr22:29294897..29296592,2	K562	blood:
3	chr22:29283926..29288290-chr22:29291343..29295207,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11912198	0.91[JPT][hapmap]
rs2281193	1.00[ASN][1000 genomes]
rs5752823	1.00[ASN][1000 genomes]
rs5752840	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs5752850	1.00[JPT][hapmap]
rs5762923	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs5762926	1.00[JPT][hapmap]
rs5762928	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs5762929	1.00[JPT][hapmap]
rs5762930	0.91[JPT][hapmap]
rs5762931	1.00[JPT][hapmap]
rs5762932	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs5762938	1.00[JPT][hapmap]
rs7287755	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29281400-29295200	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:29282200-29295000	Weak transcription	Brain Substantia Nigra	brain
3	chr22:29283400-29299000	Weak transcription	Fetal Stomach	stomach
4	chr22:29286000-29299000	Weak transcription	Ovary	ovary
5	chr22:29286800-29297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:29288000-29301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr22:29288400-29295000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29288400-29299000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29288400-29299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:29288600-29295000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:29288600-29296200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:29288600-29298600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:29290000-29296800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:29290800-29295000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29290800-29298400	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:29290800-29298600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:29290800-29299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr22:29291000-29295000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:29291000-29295000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:29291000-29295200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr22:29291200-29295200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr22:29291200-29300600	Weak transcription	Psoas Muscle	Psoas
23	chr22:29291400-29295800	Weak transcription	Esophagus	oesophagus
24	chr22:29291400-29298400	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29292000-29299000	Weak transcription	Right Atrium	heart
26	chr22:29292400-29295000	Enhancers	NHEK	skin
27	chr22:29292400-29296400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:29292400-29296600	Genic enhancers	HepG2	liver
29	chr22:29292400-29297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:29292400-29297600	Enhancers	HMEC	breast
31	chr22:29292400-29300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:29292600-29295000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:29292600-29296600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:29292600-29296800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr22:29292800-29295000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:29292800-29299000	Weak transcription	Brain Germinal Matrix	brain
37	chr22:29293000-29295000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29293000-29299800	Weak transcription	A549	lung
39	chr22:29293200-29295000	Weak transcription	Fetal Kidney	kidney
40	chr22:29293200-29295400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:29293200-29295800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr22:29293200-29296000	Weak transcription	Fetal Heart	heart
43	chr22:29293200-29296800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:29293200-29298400	Weak transcription	Right Ventricle	heart
45	chr22:29293200-29299000	Weak transcription	Left Ventricle	heart
46	chr22:29293400-29295000	Weak transcription	HSMMtube	muscle
47	chr22:29293400-29296200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:29293400-29296200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr22:29293400-29296400	Weak transcription	Brain Anterior Caudate	brain
50	chr22:29293400-29298600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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