Variant report

Variant	rs6792887
Chromosome Location	chr3:42791223-42791224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42789944..42792627-chr3:42845601..42848096,2	K562	blood:
2	chr3:42787545..42791354-chr3:42791558..42794985,4	K562	blood:
3	chr3:42702195..42702950-chr3:42791156..42791913,2	MCF-7	breast:
4	chr3:42702115..42702691-chr3:42791094..42791699,3	MCF-7	breast:
5	chr3:42694253..42696988-chr3:42790179..42793098,2	K562	blood:
6	chr3:42781201..42784093-chr3:42790186..42792951,2	K562	blood:
7	chr3:42791198..42793006-chr3:42796472..42798021,2	K562	blood:
8	chr3:42702080..42703037-chr3:42791145..42791706,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230084	Chromatin interaction
ENSG00000114853	Chromatin interaction
ENSG00000181061	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6768001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773675	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777653	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781327	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6783035	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6794170	0.83[AFR][1000 genomes]
rs6802779	1.00[YRI][hapmap];1.00[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	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1846968	chr3:42787469-42832979	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42778000-42811000	Weak transcription	Spleen	Spleen
2	chr3:42781800-42802800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:42785200-42792000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:42785200-42792000	Enhancers	Brain Substantia Nigra	brain
5	chr3:42785400-42792000	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:42785600-42791600	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:42785600-42791800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:42785800-42791800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:42787400-42791800	Enhancers	Fetal Muscle Trunk	muscle
10	chr3:42788000-42792000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:42788200-42791800	Enhancers	Colon Smooth Muscle	Colon
12	chr3:42788200-42794400	Weak transcription	Stomach Mucosa	stomach
13	chr3:42788400-42797200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:42788600-42793400	Weak transcription	Fetal Brain Male	brain
15	chr3:42788600-42796000	Weak transcription	Adipose Nuclei	Adipose
16	chr3:42788600-42804200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:42788800-42793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:42788800-42794400	Weak transcription	Gastric	stomach
19	chr3:42788800-42799800	Weak transcription	Left Ventricle	heart
20	chr3:42789000-42792600	Weak transcription	Fetal Lung	lung
21	chr3:42789000-42795200	Weak transcription	Aorta	Aorta
22	chr3:42789000-42795600	Weak transcription	Fetal Brain Female	brain
23	chr3:42789200-42791600	Enhancers	Primary T cells from cord blood	blood
24	chr3:42789400-42791400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:42789400-42793000	Weak transcription	Lung	lung
26	chr3:42789600-42791400	Enhancers	HepG2	liver
27	chr3:42789600-42792000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:42789800-42807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:42790000-42792000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:42790200-42791400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:42790200-42791600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:42790200-42793200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:42790600-42791600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:42790600-42791600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr3:42790600-42791800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:42790600-42792000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:42790600-42793600	Enhancers	Placenta	Placenta
38	chr3:42790800-42791400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:42790800-42791400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:42790800-42791600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:42790800-42791600	Enhancers	Colonic Mucosa	Colon
42	chr3:42790800-42791800	Enhancers	Pancreas	Pancrea
43	chr3:42790800-42791800	Enhancers	Right Ventricle	heart
44	chr3:42790800-42792000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:42790800-42792000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:42791000-42791400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:42791000-42791400	Enhancers	Fetal Heart	heart
48	chr3:42791000-42791800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:42791000-42791800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:42791000-42791800	Enhancers	HUES6 Cell Line	embryonic stem cell

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