Variant report

Variant	rs2583397
Chromosome Location	chr4:102229722-102229723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102229250..102230989-chr4:102267695..102270675,2	MCF-7	breast:
2	chr4:101039108..101041675-chr4:102229054..102231223,2	K562	blood:
3	chr4:102229146..102231940-chr4:102232073..102233783,2	K562	blood:
4	chr4:102228684..102230512-chr4:102715753..102717632,2	K562	blood:

Variant related genes	Relation type
ENSG00000138814	Chromatin interaction
ENSG00000254531	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1031033	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1031034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1031035	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1348161	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1530259	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2044043	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2583387	0.80[ASN][1000 genomes]
rs2583389	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2583391	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2583392	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583394	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583395	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583398	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583399	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583406	0.83[ASN][1000 genomes]
rs2850326	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850328	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2850329	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850330	0.87[EUR][1000 genomes]
rs2850331	0.87[EUR][1000 genomes]
rs2850357	0.83[ASN][1000 genomes]
rs2850366	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850367	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850368	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850369	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850371	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850372	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664200	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs920559	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102215000-102232600	Weak transcription	Pancreas	Pancrea
2	chr4:102215400-102236600	Weak transcription	Primary B cells from cord blood	blood
3	chr4:102222000-102232800	Weak transcription	Lung	lung
4	chr4:102225800-102229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:102226200-102229800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:102226400-102232600	Weak transcription	Left Ventricle	heart
7	chr4:102227000-102229800	Enhancers	NHLF	lung
8	chr4:102227200-102230200	Enhancers	NHEK	skin
9	chr4:102227600-102230200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:102227800-102238200	Weak transcription	Right Ventricle	heart
11	chr4:102228000-102229800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:102228000-102231000	Enhancers	Stomach Mucosa	stomach
13	chr4:102228200-102230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:102228200-102230200	Enhancers	HMEC	breast
15	chr4:102228200-102231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:102228200-102249400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:102228200-102250400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:102228400-102231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:102228600-102231000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:102228600-102231200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:102228600-102232600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:102228600-102232600	Weak transcription	Ovary	ovary
23	chr4:102228600-102232600	Weak transcription	Spleen	Spleen
24	chr4:102228600-102234000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:102228600-102241800	Weak transcription	HSMM	muscle
26	chr4:102228600-102247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:102228800-102230200	Weak transcription	Primary T cells from cord blood	blood
28	chr4:102228800-102230400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:102228800-102230600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:102228800-102232200	Weak transcription	A549	lung
31	chr4:102228800-102232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:102228800-102235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:102229000-102229800	Enhancers	GM12878-XiMat	blood
34	chr4:102229000-102230000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:102229000-102230400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:102229000-102230800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:102229000-102231200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:102229000-102234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:102229200-102230000	Weak transcription	Brain Anterior Caudate	brain
40	chr4:102229200-102231000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:102229200-102234400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:102229400-102234400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:102229600-102230200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:102229600-102230200	Enhancers	Gastric	stomach
45	chr4:102229600-102230200	Enhancers	Psoas Muscle	Psoas
46	chr4:102229600-102230400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:102229600-102230800	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:102229600-102230800	Enhancers	Small Intestine	intestine
49	chr4:102229600-102232200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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