Variant report

Variant	rs57347154
Chromosome Location	chr3:49962639-49962640
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	chr3:49957696..49960424-chr3:49962636..49964421,2	K562	blood:
2	chr3:49960741..49963713-chr3:49976574..49979018,3	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12107362	1.00[AMR][1000 genomes]
rs12107386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050905	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050924	1.00[AMR][1000 genomes]
rs2230592	0.89[AFR][1000 genomes]
rs28424211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35340753	0.89[AFR][1000 genomes]
rs55750059	1.00[AMR][1000 genomes]
rs55913179	1.00[AMR][1000 genomes]
rs56057035	0.89[AFR][1000 genomes]
rs56263643	1.00[AMR][1000 genomes]
rs56297242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56352827	0.87[AFR][1000 genomes]
rs58095278	1.00[AMR][1000 genomes]
rs58363428	1.00[AMR][1000 genomes]
rs58688714	1.00[AMR][1000 genomes]
rs59822920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60065407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60234882	1.00[AMR][1000 genomes]
rs60844685	1.00[AMR][1000 genomes]
rs61156427	1.00[AFR][1000 genomes]
rs61435065	1.00[AMR][1000 genomes]
rs73832783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832801	1.00[AMR][1000 genomes]
rs73834118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834120	1.00[AMR][1000 genomes]
rs73834125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835208	1.00[AMR][1000 genomes]
rs73835216	1.00[AMR][1000 genomes]
rs73835217	1.00[AMR][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	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
2	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
2	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:49944400-49966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:49944400-49966000	Weak transcription	HUVEC	blood vessel
5	chr3:49946800-49965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:49948000-49966800	Weak transcription	Fetal Heart	heart
7	chr3:49948600-49965400	Weak transcription	Fetal Lung	lung
8	chr3:49948800-49966000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:49949000-49966200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:49949400-49965600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:49949800-49965400	Weak transcription	Gastric	stomach
12	chr3:49949800-49965800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:49949800-49966800	Weak transcription	Aorta	Aorta
14	chr3:49950000-49965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:49950200-49966000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:49950400-49965400	Weak transcription	Right Ventricle	heart
17	chr3:49950400-49965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:49950600-49965400	Weak transcription	Brain Angular Gyrus	brain
21	chr3:49950600-49965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:49950600-49965600	Weak transcription	Fetal Thymus	thymus
23	chr3:49950600-49965800	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:49950600-49966000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:49950600-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:49950600-49966000	Weak transcription	Brain Germinal Matrix	brain
27	chr3:49950600-49966000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:49950600-49966200	Weak transcription	Ovary	ovary
29	chr3:49950600-49966800	Weak transcription	Small Intestine	intestine
30	chr3:49950800-49963400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:49950800-49964800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:49950800-49965000	Weak transcription	Dnd41	blood
33	chr3:49950800-49965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:49950800-49965400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:49950800-49965400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:49950800-49965400	Weak transcription	Pancreas	Pancrea
37	chr3:49950800-49965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:49950800-49965600	Weak transcription	Placenta	Placenta
39	chr3:49950800-49965800	Weak transcription	Adipose Nuclei	Adipose
40	chr3:49950800-49965800	Weak transcription	Brain Anterior Caudate	brain
41	chr3:49950800-49965800	Weak transcription	Brain Substantia Nigra	brain
42	chr3:49950800-49965800	Weak transcription	Thymus	Thymus
43	chr3:49950800-49965800	Weak transcription	Spleen	Spleen
44	chr3:49950800-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:49950800-49966400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:49951000-49965600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:49951200-49965600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:49951400-49965400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:49951400-49965400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:49951400-49965400	Weak transcription	Lung	lung

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