Variant report

Variant	rs4648043
Chromosome Location	chr4:103508598-103508599
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	chr4:103507106..103510839-chr4:103511469..103515611,4	K562	blood:

Variant related genes	Relation type
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4648002	1.00[YRI][hapmap]
rs4648015	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648016	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648091	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648116	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648134	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs7679591	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
2	chr4:103478200-103511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:103483000-103518600	Weak transcription	Small Intestine	intestine
4	chr4:103483200-103516600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:103483400-103541600	Weak transcription	K562	blood
6	chr4:103488200-103520000	Weak transcription	Fetal Kidney	kidney
7	chr4:103490800-103519200	Weak transcription	Stomach Mucosa	stomach
8	chr4:103495800-103511800	Strong transcription	Primary B cells from cord blood	blood
9	chr4:103495800-103516400	Weak transcription	NHLF	lung
10	chr4:103496200-103513200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:103496400-103510000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:103497000-103516600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:103497400-103513000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr4:103497800-103509400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:103497800-103509400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr4:103498000-103509000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:103498000-103509600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr4:103498000-103510200	Strong transcription	Adipose Nuclei	Adipose
20	chr4:103498000-103511600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:103498000-103511600	Strong transcription	Dnd41	blood
22	chr4:103498000-103513000	Strong transcription	Liver	Liver
23	chr4:103498000-103513200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:103498200-103511600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:103498200-103513400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:103498200-103513600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:103498800-103520600	Weak transcription	Fetal Brain Female	brain
28	chr4:103500200-103511000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:103500200-103511400	Weak transcription	Ovary	ovary
30	chr4:103500200-103515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:103500200-103527600	Weak transcription	Pancreas	Pancrea
32	chr4:103500400-103512000	Weak transcription	A549	lung
33	chr4:103500400-103516400	Weak transcription	Gastric	stomach
34	chr4:103500400-103522600	Weak transcription	Psoas Muscle	Psoas
35	chr4:103500400-103528200	Weak transcription	Right Ventricle	heart
36	chr4:103500800-103517400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:103501200-103510000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:103501400-103508600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:103501400-103510000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:103501600-103509600	Strong transcription	Hela-S3	cervix
41	chr4:103501800-103512200	Strong transcription	Fetal Intestine Large	intestine
42	chr4:103502600-103509600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:103502800-103508800	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:103502800-103517400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:103503200-103516800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:103503400-103511600	Weak transcription	Fetal Heart	heart
48	chr4:103504200-103508800	Strong transcription	Colon Smooth Muscle	Colon
49	chr4:103504200-103510400	Strong transcription	Left Ventricle	heart
50	chr4:103504400-103514000	Weak transcription	HepG2	liver

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