Variant report

Variant	rs7692727
Chromosome Location	chr4:143059750-143059751
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1874575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645789	0.83[AMR][1000 genomes]
rs2645796	0.83[AMR][1000 genomes]
rs336309	0.83[AMR][1000 genomes]
rs336320	0.83[AMR][1000 genomes]
rs336328	0.83[AMR][1000 genomes]
rs6832091	0.96[AFR][1000 genomes]
rs7658492	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7698659	0.83[AMR][1000 genomes]

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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143025400-143066800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:143031000-143064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:143034000-143061600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:143042200-143060200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:143043400-143089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
8	chr4:143050000-143079600	Weak transcription	NHDF-Ad	bronchial
9	chr4:143050200-143061000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:143050400-143062400	Weak transcription	Fetal Stomach	stomach
11	chr4:143050400-143063600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:143050600-143059800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:143051400-143093400	Weak transcription	Left Ventricle	heart
14	chr4:143051800-143070600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:143052000-143059800	Weak transcription	NHEK	skin
16	chr4:143052400-143061600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:143052400-143062600	Weak transcription	Fetal Intestine Small	intestine
18	chr4:143052400-143081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:143052600-143081400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:143054800-143065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:143055400-143059800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143056800-143060800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:143057600-143060000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:143057600-143078800	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:143057800-143059800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:143057800-143059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:143057800-143060000	Weak transcription	HSMM	muscle
30	chr4:143057800-143070200	Weak transcription	Fetal Heart	heart
31	chr4:143057800-143079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
33	chr4:143058000-143059800	Weak transcription	Primary T cells from cord blood	blood
34	chr4:143058000-143059800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:143058000-143059800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:143058000-143059800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:143058000-143059800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:143058000-143059800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:143058000-143059800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:143058000-143059800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:143058000-143059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:143058000-143059800	Weak transcription	Dnd41	blood
43	chr4:143058000-143060800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:143058000-143060800	Weak transcription	HMEC	breast
45	chr4:143058000-143060800	Weak transcription	HSMMtube	muscle
46	chr4:143058000-143061000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:143058000-143061000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:143058200-143059800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:143058200-143060000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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