Variant report

Variant	rs931420
Chromosome Location	chr4:143275595-143275596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143274014..143275963-chr4:143618160..143619947,2	MCF-7	breast:
2	chr4:143272659..143276206-chr4:143392332..143397078,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10021260	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499068	0.80[EUR][1000 genomes]
rs12640900	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1497393	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497396	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565307	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2200841	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435783	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28707318	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6842192	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666932	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308149	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977617	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998814	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998945	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143265800-143280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr4:143268400-143283200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:143269400-143278600	Enhancers	Fetal Heart	heart
4	chr4:143270200-143275800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:143270800-143284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:143271000-143277200	Enhancers	Fetal Lung	lung
7	chr4:143271200-143275600	Enhancers	HSMMtube	muscle
8	chr4:143271200-143276800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:143272000-143277000	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:143272400-143275800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:143272400-143276000	Weak transcription	Adipose Nuclei	Adipose
12	chr4:143272400-143278200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:143272400-143279800	Weak transcription	Right Ventricle	heart
14	chr4:143272600-143276000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:143272600-143276200	Weak transcription	Small Intestine	intestine
16	chr4:143273200-143276800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:143273400-143276000	Weak transcription	Right Atrium	heart
18	chr4:143273400-143276800	Enhancers	HSMM	muscle
19	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
20	chr4:143273600-143276200	Enhancers	NHDF-Ad	bronchial
21	chr4:143273600-143276200	Enhancers	NHLF	lung
22	chr4:143273600-143277000	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:143273600-143277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:143273800-143276800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:143273800-143277000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:143273800-143278600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:143274000-143276000	Enhancers	Primary T cells from cord blood	blood
28	chr4:143274000-143276600	Enhancers	Osteobl	bone
29	chr4:143274000-143276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:143274000-143276800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:143274000-143277000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:143274000-143277000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:143274000-143278400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143274000-143278800	Enhancers	Dnd41	blood
35	chr4:143274200-143275600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:143274200-143276000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:143274200-143276400	Enhancers	NHEK	skin
38	chr4:143274200-143276800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:143274200-143276800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:143274400-143277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:143274400-143278600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:143274400-143281400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:143274600-143275600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:143274600-143275600	Enhancers	NH-A	brain
45	chr4:143274600-143276200	Enhancers	Fetal Muscle Leg	muscle
46	chr4:143274600-143277600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:143274800-143276000	Weak transcription	Fetal Intestine Large	intestine
48	chr4:143274800-143276000	Weak transcription	Stomach Mucosa	stomach
49	chr4:143274800-143276200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:143274800-143276200	Enhancers	HMEC	breast

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