Variant report

Variant	rs336407
Chromosome Location	chr4:143054921-143054922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1219270	0.83[ASW][hapmap];0.81[MKK][hapmap]
rs1390994	0.81[MKK][hapmap]
rs2636666	0.81[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs336407	GAB1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143010400-143057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:143025400-143066800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:143030000-143057000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:143031000-143064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:143034000-143061600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:143039200-143059000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:143042200-143060200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:143043400-143089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:143043600-143056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:143045800-143057200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:143046800-143057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:143049600-143057200	Weak transcription	Lung	lung
14	chr4:143049800-143055600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
16	chr4:143050000-143056600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:143050000-143079600	Weak transcription	NHDF-Ad	bronchial
18	chr4:143050200-143056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:143050200-143061000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:143050400-143055000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:143050400-143056600	Weak transcription	HSMMtube	muscle
22	chr4:143050400-143062400	Weak transcription	Fetal Stomach	stomach
23	chr4:143050400-143063600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:143050600-143059800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:143050800-143056200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:143050800-143056200	Weak transcription	Dnd41	blood
27	chr4:143051400-143093400	Weak transcription	Left Ventricle	heart
28	chr4:143051600-143056600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:143051800-143056800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:143051800-143070600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:143052000-143057200	Weak transcription	Aorta	Aorta
32	chr4:143052000-143059800	Weak transcription	NHEK	skin
33	chr4:143052200-143055000	Weak transcription	Primary T cells from cord blood	blood
34	chr4:143052400-143061600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:143052400-143062600	Weak transcription	Fetal Intestine Small	intestine
36	chr4:143052400-143081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:143052600-143056600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:143052600-143081400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:143053000-143055400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:143053400-143055400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:143053600-143055800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:143053600-143058000	Strong transcription	HMEC	breast
45	chr4:143053800-143055400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:143053800-143056800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:143054000-143055000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:143054000-143055000	Enhancers	Fetal Heart	heart
49	chr4:143054400-143055400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:143054400-143056200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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