Variant report

Variant	rs6838330
Chromosome Location	chr4:15454995-15454996
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	chr4:15451138..15453425-chr4:15453445..15455847,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10000250	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012928	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022530	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033082	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10212846	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024757	0.83[ASN][1000 genomes]
rs1024760	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698110	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698382	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665294	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7697373	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9993580	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993656	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995927	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15438400-15458800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:15438800-15471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:15448400-15458800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:15452600-15456600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:15453000-15458800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:15453400-15455800	Enhancers	NHLF	lung
7	chr4:15453400-15456600	Weak transcription	Liver	Liver
8	chr4:15453400-15458200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:15453400-15458400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:15453400-15458600	Weak transcription	Left Ventricle	heart
11	chr4:15453600-15456600	Weak transcription	Ovary	ovary
12	chr4:15453600-15456600	Weak transcription	Psoas Muscle	Psoas
13	chr4:15453600-15456800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:15453600-15457600	Enhancers	NHDF-Ad	bronchial
15	chr4:15453600-15458400	Weak transcription	Spleen	Spleen
16	chr4:15453600-15458600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:15453600-15459000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:15453600-15459000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:15453800-15455800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:15453800-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:15454000-15458400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:15454000-15458800	Weak transcription	Fetal Lung	lung
23	chr4:15454200-15456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:15454200-15456800	Weak transcription	Right Atrium	heart
25	chr4:15454200-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:15454200-15458600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:15454200-15458800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:15454200-15458800	Weak transcription	Stomach Mucosa	stomach
29	chr4:15454200-15459000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:15454400-15456200	Weak transcription	Placenta	Placenta
31	chr4:15454400-15456800	Weak transcription	HSMMtube	muscle
32	chr4:15454400-15457200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:15454400-15458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:15454400-15458800	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:15454600-15456400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:15454600-15456400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:15454600-15456600	Weak transcription	Adipose Nuclei	Adipose
38	chr4:15454600-15458600	Weak transcription	Fetal Stomach	stomach
39	chr4:15454800-15455800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:15454800-15456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:15454800-15456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:15454800-15456400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:15454800-15456400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:15454800-15456400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:15454800-15456400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:15454800-15456400	Weak transcription	Aorta	Aorta
47	chr4:15454800-15456400	Weak transcription	Osteobl	bone
48	chr4:15454800-15456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:15454800-15456800	Weak transcription	HSMM	muscle
50	chr4:15454800-15459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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