Variant report

Variant	rs980808
Chromosome Location	chr4:143271646-143271647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1158692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511267	0.83[AMR][1000 genomes]
rs13128245	0.83[AMR][1000 genomes]
rs13138212	0.84[AMR][1000 genomes]
rs13144939	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391098	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497397	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497398	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565306	0.84[AMR][1000 genomes]
rs1812174	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029991	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173209	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];0.83[EUR][1000 genomes]
rs2627837	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2635421	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635422	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2635424	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646085	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646086	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2646087	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646089	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2646090	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646091	0.91[ASN][1000 genomes]
rs34830426	0.80[AMR][1000 genomes]
rs6825345	0.80[AMR][1000 genomes]
rs716762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724131	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724560	0.82[AMR][1000 genomes]
rs7699598	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882004	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882005	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931419	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
3	chr4:143258000-143274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:143258200-143274000	Weak transcription	Dnd41	blood
5	chr4:143260200-143272000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:143264000-143275400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:143264600-143274400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:143265800-143280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143266800-143273000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:143267200-143272000	Weak transcription	Small Intestine	intestine
11	chr4:143267200-143273200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:143267400-143272000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:143268400-143283200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:143268600-143272000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:143268600-143273800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:143268600-143274000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:143268600-143274000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:143269000-143273400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr4:143269200-143272600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:143269400-143278600	Enhancers	Fetal Heart	heart
21	chr4:143269800-143272000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:143270000-143272000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:143270000-143272000	Weak transcription	Fetal Stomach	stomach
24	chr4:143270000-143272200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:143270000-143273200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:143270000-143274200	Weak transcription	NHEK	skin
27	chr4:143270000-143274600	Weak transcription	Ovary	ovary
28	chr4:143270200-143271800	Weak transcription	Stomach Mucosa	stomach
29	chr4:143270200-143272000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:143270200-143272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:143270200-143272000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:143270200-143272000	Weak transcription	Aorta	Aorta
33	chr4:143270200-143272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:143270200-143272000	Weak transcription	Fetal Intestine Small	intestine
35	chr4:143270200-143272000	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:143270200-143272000	Weak transcription	Left Ventricle	heart
37	chr4:143270200-143272000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:143270200-143272000	Weak transcription	NHDF-Ad	bronchial
39	chr4:143270200-143272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:143270200-143272200	Weak transcription	Right Atrium	heart
41	chr4:143270200-143272200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:143270200-143272200	Weak transcription	HMEC	breast
43	chr4:143270200-143273200	Weak transcription	NHLF	lung
44	chr4:143270200-143274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:143270200-143274400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:143270200-143275200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:143270200-143275200	Weak transcription	Psoas Muscle	Psoas
48	chr4:143270200-143275800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:143270400-143272000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:143270400-143272000	Weak transcription	A549	lung

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