Variant report

Variant	rs7566282
Chromosome Location	chr2:205409025-205409026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:205408554-205412138	IMR90	lung:	n/a	chr2:205410553-205410562

No.	Distal block	Cell Line	Cell type
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:
2	chr2:205396469..205398520-chr2:205407937..205409704,2	MCF-7	breast:
3	chr2:205399753..205401346-chr2:205407445..205409180,2	MCF-7	breast:

Variant related genes	Relation type
PARD3B	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59970517	1.00[AMR][1000 genomes]
rs73057260	1.00[AMR][1000 genomes]
rs73059032	1.00[AMR][1000 genomes]
rs7590927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7600990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205397600-205409600	Weak transcription	Pancreas	Pancrea
2	chr2:205398600-205409400	Weak transcription	HSMMtube	muscle
3	chr2:205403400-205409200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:205403400-205409200	Weak transcription	Spleen	Spleen
5	chr2:205403400-205409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:205403600-205409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:205403600-205409200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:205403600-205409400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:205403600-205409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:205403800-205409200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:205403800-205409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:205404000-205409400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:205404000-205409400	Weak transcription	HSMM	muscle
14	chr2:205404200-205409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:205404200-205409400	Weak transcription	NHLF	lung
16	chr2:205405200-205409200	Weak transcription	HUVEC	blood vessel
17	chr2:205407000-205409400	Weak transcription	K562	blood
18	chr2:205407600-205409400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:205407600-205409400	Enhancers	NHDF-Ad	bronchial
20	chr2:205408200-205409200	Enhancers	Adipose Nuclei	Adipose
21	chr2:205408200-205409400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:205408200-205409400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:205408400-205409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:205408400-205409200	Weak transcription	Stomach Mucosa	stomach
25	chr2:205408600-205409200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:205408800-205409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:205408800-205409200	Enhancers	Fetal Intestine Small	intestine
28	chr2:205409000-205409200	Enhancers	Brain Anterior Caudate	brain
29	chr2:205409000-205409200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:205409000-205409200	Enhancers	Fetal Intestine Large	intestine
31	chr2:205409000-205409200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:205409000-205409200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:205409000-205409200	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:205409000-205409400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:205409000-205409400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:205409000-205409400	Enhancers	Liver	Liver

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