Variant report

Variant	rs56057035
Chromosome Location	chr3:49926757-49926758
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	chr3:49926353..49927949-chr3:49939472..49941342,2	K562	blood:
2	chr3:49903018..49905123-chr3:49925603..49927642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164078	Chromatin interaction
ENSG00000228008	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2230592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28424211	0.89[AFR][1000 genomes]
rs35340753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56352827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57347154	0.89[AFR][1000 genomes]
rs61156427	0.89[AFR][1000 genomes]
rs73831918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832783	0.89[AFR][1000 genomes]
rs73834119	0.89[AFR][1000 genomes]
rs73834125	0.89[AFR][1000 genomes]
rs73834127	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49918800-49928400	Weak transcription	Colonic Mucosa	Colon
2	chr3:49919400-49928600	Weak transcription	Esophagus	oesophagus
3	chr3:49919600-49933400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:49919600-49933400	Weak transcription	Stomach Mucosa	stomach
5	chr3:49919600-49937800	Weak transcription	Small Intestine	intestine
6	chr3:49919800-49933800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:49920000-49930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
9	chr3:49920200-49932600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:49920200-49932600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart
13	chr3:49920600-49938200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:49920600-49938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:49921800-49926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:49921800-49928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:49922600-49935400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:49924000-49929400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:49924000-49929400	Strong transcription	Lung	lung
20	chr3:49924000-49930000	Strong transcription	Gastric	stomach
21	chr3:49924000-49930200	Strong transcription	NHEK	skin
22	chr3:49924000-49936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:49924000-49937600	Strong transcription	Fetal Stomach	stomach
24	chr3:49924200-49926800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:49924200-49929400	Strong transcription	Hela-S3	cervix
26	chr3:49924200-49930000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:49924200-49932600	Weak transcription	Pancreas	Pancrea
28	chr3:49924400-49927400	Weak transcription	Fetal Brain Female	brain
29	chr3:49924600-49926800	Strong transcription	HMEC	breast
30	chr3:49924600-49937600	Weak transcription	K562	blood
31	chr3:49924800-49938200	Weak transcription	Right Ventricle	heart
32	chr3:49925000-49927200	Weak transcription	Fetal Intestine Large	intestine
33	chr3:49925000-49930400	Strong transcription	Fetal Intestine Small	intestine
34	chr3:49925200-49926800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:49925200-49927200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:49925200-49941200	Weak transcription	Brain Germinal Matrix	brain
37	chr3:49925600-49929600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr3:49926200-49927000	Bivalent Enhancer	HepG2	liver
39	chr3:49926200-49927400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:49926200-49927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:49926400-49927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:49926400-49929400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:49926600-49927000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:49926600-49927000	Enhancers	Spleen	Spleen
45	chr3:49926600-49927200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:49926600-49927200	Weak transcription	Placenta	Placenta
47	chr3:49926600-49938400	Weak transcription	Aorta	Aorta

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