Variant report

Variant	rs960679
Chromosome Location	chr4:143236139-143236140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1817971	0.80[ASN][1000 genomes]
rs2627802	0.80[EUR][1000 genomes]
rs2627814	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2635425	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2635426	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2635427	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2635428	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2636639	0.81[CEU][hapmap]
rs2636670	0.82[ASN][1000 genomes]
rs2636671	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2646096	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6844681	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][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	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:143217600-143238600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:143219400-143236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:143223600-143239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:143225400-143237400	Weak transcription	Ovary	ovary
7	chr4:143225400-143240200	Weak transcription	Esophagus	oesophagus
8	chr4:143231400-143239400	Weak transcription	HSMMtube	muscle
9	chr4:143232000-143236200	Strong transcription	HMEC	breast
10	chr4:143232400-143236200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:143232800-143236200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:143233000-143236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:143233600-143236200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:143233800-143236200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr4:143233800-143241000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:143233800-143257200	Weak transcription	Left Ventricle	heart
17	chr4:143234000-143236200	Enhancers	Fetal Thymus	thymus
18	chr4:143234000-143236400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:143234000-143242000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:143234200-143240000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:143234400-143236200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:143234600-143236200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:143234600-143237400	Enhancers	Small Intestine	intestine
24	chr4:143234600-143237600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:143234800-143236400	Genic enhancers	Dnd41	blood
26	chr4:143234800-143236600	Enhancers	Stomach Mucosa	stomach
27	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:143235000-143236400	Enhancers	Fetal Intestine Small	intestine
29	chr4:143235000-143237400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:143235000-143240000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:143235000-143240200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:143235000-143243200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:143235000-143244200	Weak transcription	NHDF-Ad	bronchial
34	chr4:143235400-143236200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:143235400-143236400	Enhancers	Primary T cells from cord blood	blood
36	chr4:143235400-143236800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:143235400-143237000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:143235600-143237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:143235600-143238200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:143235600-143238600	Weak transcription	Psoas Muscle	Psoas
41	chr4:143235600-143266400	Weak transcription	NHEK	skin
42	chr4:143235800-143236200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:143235800-143237000	Weak transcription	Fetal Lung	lung
44	chr4:143235800-143237200	Weak transcription	Fetal Heart	heart
45	chr4:143235800-143237600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:143235800-143239400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:143235800-143241600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr4:143236000-143236200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:143236000-143236200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:143236000-143237000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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