Variant report

Variant	rs73079705
Chromosome Location	chr4:8204384-8204385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
2	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
3	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
4	chr4:8203500..8205646-chr4:8217325..8220224,2	MCF-7	breast:
5	chr4:8196365..8198460-chr4:8203921..8207190,4	K562	blood:
6	chr4:8202634..8204375-chr4:8204383..8206592,2	MCF-7	breast:
7	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1281116	0.84[EUR][1000 genomes]
rs1281121	0.86[EUR][1000 genomes]
rs1281124	0.80[EUR][1000 genomes]
rs1281125	0.80[EUR][1000 genomes]
rs1298472	0.80[EUR][1000 genomes]
rs55727461	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56133518	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56318069	0.90[EUR][1000 genomes]
rs56773912	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58214166	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58829078	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59350156	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61366997	0.89[EUR][1000 genomes]
rs73077982	0.95[EUR][1000 genomes]
rs73077985	0.95[EUR][1000 genomes]
rs73077988	0.95[EUR][1000 genomes]
rs73077994	0.95[EUR][1000 genomes]
rs73077998	0.96[EUR][1000 genomes]
rs73079711	0.89[EUR][1000 genomes]
rs73798643	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73798644	0.82[EUR][1000 genomes]
rs73798645	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73800411	0.90[EUR][1000 genomes]
rs73800413	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:8200400-8204400	Flanking Active TSS	Fetal Thymus	thymus
5	chr4:8200600-8205200	Flanking Active TSS	Dnd41	blood
6	chr4:8201200-8204600	Active TSS	Brain Hippocampus Middle	brain
7	chr4:8201800-8204600	Flanking Active TSS	Liver	Liver
8	chr4:8201800-8204600	Flanking Active TSS	GM12878-XiMat	blood
9	chr4:8201800-8204800	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr4:8202000-8204800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:8202200-8204400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr4:8202400-8205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8202600-8204800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr4:8202600-8207600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:8202800-8204600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:8202800-8205000	Enhancers	Pancreas	Pancrea
17	chr4:8202800-8205000	Enhancers	Stomach Mucosa	stomach
18	chr4:8203000-8206000	Weak transcription	NHLF	lung
19	chr4:8203000-8206600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:8203000-8216200	Weak transcription	Osteobl	bone
21	chr4:8203000-8216400	Weak transcription	Hela-S3	cervix
22	chr4:8203200-8205600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:8203200-8206800	Weak transcription	Fetal Heart	heart
24	chr4:8203200-8206800	Weak transcription	A549	lung
25	chr4:8203200-8208800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:8203200-8222400	Weak transcription	Brain Substantia Nigra	brain
27	chr4:8203400-8204800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:8203400-8204800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr4:8203400-8204800	Enhancers	Placenta	Placenta
30	chr4:8203400-8205000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:8203400-8205200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:8203400-8205400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:8203400-8205400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr4:8203400-8205800	Flanking Active TSS	HepG2	liver
35	chr4:8203400-8206200	Enhancers	Fetal Intestine Large	intestine
36	chr4:8203400-8207000	Weak transcription	NH-A	brain
37	chr4:8203400-8207600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:8203400-8210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:8203400-8216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:8203400-8216600	Weak transcription	Right Atrium	heart
41	chr4:8203600-8204800	Enhancers	Primary T cells from cord blood	blood
42	chr4:8203600-8205000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr4:8203600-8205000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:8203600-8207600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:8203600-8208400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:8203600-8208400	Genic enhancers	Spleen	Spleen
47	chr4:8203600-8211200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:8203600-8216600	Weak transcription	Left Ventricle	heart
49	chr4:8203800-8204400	Genic enhancers	Right Ventricle	heart
50	chr4:8203800-8204600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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