Variant report

Variant	rs543762520
Chromosome Location	chr4:143050771-143050772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:143004600-143051600	Weak transcription	Pancreas	Pancrea
3	chr4:143010400-143057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:143025400-143066800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:143030000-143057000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:143031000-143064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:143034000-143061600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:143039200-143059000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:143042200-143051400	Weak transcription	Aorta	Aorta
11	chr4:143042200-143060200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:143042600-143051600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:143043400-143089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:143043600-143056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:143043800-143054000	Weak transcription	Psoas Muscle	Psoas
16	chr4:143045800-143057200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:143046000-143051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:143046000-143051600	Weak transcription	NHEK	skin
19	chr4:143046400-143051400	Weak transcription	Primary T cells from cord blood	blood
20	chr4:143046400-143052200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:143046400-143054600	Weak transcription	HSMM	muscle
22	chr4:143046800-143057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:143047200-143051200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:143048800-143051000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:143049400-143051400	Enhancers	HUVEC	blood vessel
26	chr4:143049400-143051800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:143049400-143052200	Enhancers	Fetal Heart	heart
28	chr4:143049600-143050800	Strong transcription	Dnd41	blood
29	chr4:143049600-143052600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:143049600-143057200	Weak transcription	Lung	lung
31	chr4:143049800-143051800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:143049800-143052000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:143049800-143052400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:143049800-143052400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:143049800-143053000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:143049800-143055600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
38	chr4:143050000-143051200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:143050000-143051800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:143050000-143052400	Enhancers	Stomach Smooth Muscle	stomach
41	chr4:143050000-143056600	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:143050000-143079600	Weak transcription	NHDF-Ad	bronchial
43	chr4:143050200-143050800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr4:143050200-143050800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:143050200-143051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:143050200-143051400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:143050200-143052400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:143050200-143056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:143050200-143061000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:143050400-143050800	Enhancers	Spleen	Spleen

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