Variant report

Variant	rs1497398
Chromosome Location	chr4:143286544-143286545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1158692	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158693	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728236	1.00[YRI][hapmap]
rs12511267	0.83[AMR][1000 genomes]
rs13128245	0.83[AMR][1000 genomes]
rs13138212	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes]
rs13144939	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391098	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489577	0.87[CEU][hapmap]
rs1489578	0.87[CEU][hapmap]
rs1497389	0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1497397	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565306	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1812174	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982966	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2029991	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173209	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2255497	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627806	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2627837	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2635421	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635422	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2635424	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646085	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646086	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2646087	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646089	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2646090	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646091	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs34830426	0.80[AMR][1000 genomes]
rs3775703	0.87[AFR][1000 genomes]
rs3775705	1.00[YRI][hapmap]
rs3775718	1.00[YRI][hapmap]
rs6825345	0.80[AMR][1000 genomes]
rs716762	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724131	0.96[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724560	0.82[AMR][1000 genomes]
rs7699598	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs881611	0.87[CEU][hapmap]
rs882004	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882005	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931419	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980808	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143274800-143288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:143275400-143288000	Weak transcription	Aorta	Aorta
4	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143277200-143288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:143277800-143289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
10	chr4:143280600-143287600	Weak transcription	Fetal Heart	heart
11	chr4:143282400-143286800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:143284000-143288000	Weak transcription	Primary T cells from cord blood	blood
13	chr4:143284200-143286600	Weak transcription	NHEK	skin
14	chr4:143284200-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:143284400-143286600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:143284800-143286800	Enhancers	HSMMtube	muscle
17	chr4:143284800-143289400	Enhancers	HSMM	muscle
18	chr4:143285000-143288200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:143285200-143288000	Weak transcription	A549	lung
21	chr4:143285200-143288600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:143285200-143290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr4:143285800-143286800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:143285800-143287200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:143285800-143288000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:143285800-143288600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:143285800-143288800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:143285800-143289000	Weak transcription	Dnd41	blood
30	chr4:143285800-143289200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:143285800-143290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:143285800-143290400	Enhancers	NHDF-Ad	bronchial
33	chr4:143286000-143286800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:143286000-143286800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:143286000-143286800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:143286000-143286800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:143286000-143286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:143286000-143286800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:143286000-143286800	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:143286000-143288200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:143286000-143288800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:143286000-143289200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:143286000-143290600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:143286200-143286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:143286200-143286800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:143286200-143286800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:143286200-143286800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:143286200-143286800	Enhancers	Fetal Lung	lung
49	chr4:143286200-143287000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:143286200-143287200	Enhancers	Muscle Satellite Cultured Cells	--

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