Variant report

Variant	rs1817971
Chromosome Location	chr4:143240285-143240286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2636670	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636671	0.80[ASN][1000 genomes]
rs960679	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3408633	chr4:143240094-143240335	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143233800-143241000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:143233800-143257200	Weak transcription	Left Ventricle	heart
4	chr4:143234000-143242000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:143235000-143243200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:143235000-143244200	Weak transcription	NHDF-Ad	bronchial
8	chr4:143235600-143266400	Weak transcription	NHEK	skin
9	chr4:143235800-143241600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:143236000-143240800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:143236000-143241600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143236000-143252000	Weak transcription	HSMM	muscle
13	chr4:143236200-143240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:143236200-143241800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:143236200-143243400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:143236200-143245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:143236200-143257000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:143236200-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:143236200-143257600	Weak transcription	HMEC	breast
20	chr4:143236400-143244000	Weak transcription	Dnd41	blood
21	chr4:143236400-143247400	Weak transcription	Fetal Intestine Small	intestine
22	chr4:143237200-143251200	Weak transcription	Stomach Mucosa	stomach
23	chr4:143237400-143244000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:143237400-143252000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143237600-143251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:143238200-143244200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:143238400-143240400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:143239000-143240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:143239800-143241000	Strong transcription	Primary T cells from cord blood	blood
30	chr4:143240000-143240800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:143240000-143241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143240200-143240400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr4:143240200-143240400	Enhancers	Esophagus	oesophagus
34	chr4:143240200-143240600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:143240200-143240800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:143240200-143241000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:143240200-143243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:143240200-143245400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:143240200-143246600	Weak transcription	HSMMtube	muscle

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