Variant report

Variant	rs5763003
Chromosome Location	chr22:29539501-29539502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29194152..29196570-chr22:29538750..29540833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12166946	0.81[EUR][1000 genomes]

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	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
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29517200-29546200	Strong transcription	Dnd41	blood
4	chr22:29522400-29541600	Weak transcription	HMEC	breast
5	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
6	chr22:29525800-29544400	Weak transcription	NHLF	lung
7	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
8	chr22:29526200-29547000	Weak transcription	K562	blood
9	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
10	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
12	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
20	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
21	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr22:29533800-29539800	Strong transcription	Brain Germinal Matrix	brain
23	chr22:29533800-29543600	Strong transcription	Fetal Brain Female	brain
24	chr22:29534600-29540600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:29534800-29540400	Weak transcription	Gastric	stomach
26	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
27	chr22:29535400-29540600	Weak transcription	NHEK	skin
28	chr22:29536000-29541000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr22:29536400-29539600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29536400-29539800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29536400-29540200	Weak transcription	Spleen	Spleen
32	chr22:29536400-29542400	Weak transcription	Brain Substantia Nigra	brain
33	chr22:29536400-29543000	Weak transcription	Brain Angular Gyrus	brain
34	chr22:29536600-29543000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
36	chr22:29536800-29540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:29536800-29540400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr22:29536800-29541200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:29537000-29541800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:29537000-29543600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:29537200-29542000	Strong transcription	Right Ventricle	heart
42	chr22:29537200-29543600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:29537200-29548200	Weak transcription	Fetal Brain Male	brain
44	chr22:29537400-29541800	Weak transcription	HepG2	liver
45	chr22:29537400-29545800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr22:29537600-29540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:29537800-29540200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:29537800-29541200	Strong transcription	Brain Hippocampus Middle	brain
49	chr22:29538000-29539600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:29538000-29539800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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