Variant report

Variant	rs58873518
Chromosome Location	chr7:4045885-4045886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4040678..4043127-chr7:4045371..4048352,2	K562	blood:
2	chr7:4011902..4014753-chr7:4043521..4046238,2	MCF-7	breast:
3	chr7:3965980..3968136-chr7:4044962..4047552,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10226621	0.84[EUR][1000 genomes]
rs10270792	0.84[EUR][1000 genomes]
rs11971958	0.86[AFR][1000 genomes]
rs11972874	0.86[AFR][1000 genomes]
rs11973168	0.83[AFR][1000 genomes]
rs11978290	0.83[AMR][1000 genomes]
rs11980257	0.85[AFR][1000 genomes]
rs17134136	0.90[AFR][1000 genomes]
rs17134146	0.92[AFR][1000 genomes]
rs28494068	0.84[EUR][1000 genomes]
rs55813665	0.91[AFR][1000 genomes]
rs61735696	0.84[EUR][1000 genomes]
rs66673389	0.92[AFR][1000 genomes]
rs6965091	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73673207	0.82[AFR][1000 genomes]
rs73673216	0.86[AFR][1000 genomes]
rs73673219	0.86[AFR][1000 genomes]
rs7456402	0.84[EUR][1000 genomes]
rs7780738	0.84[EUR][1000 genomes]
rs920800	0.84[EUR][1000 genomes]
rs920801	0.84[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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4022000-4057800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:4022200-4046000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:4030600-4046000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:4030600-4046400	Weak transcription	Fetal Intestine Small	intestine
5	chr7:4031000-4050000	Weak transcription	Pancreas	Pancrea
6	chr7:4031200-4058400	Weak transcription	Gastric	stomach
7	chr7:4035400-4048800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:4038000-4046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:4038000-4054800	Weak transcription	Spleen	Spleen
10	chr7:4040800-4049000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:4042000-4046000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:4042000-4054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:4043600-4046600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:4043600-4049200	Weak transcription	Aorta	Aorta
15	chr7:4044600-4052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:4045000-4046400	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:4045200-4047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:4045400-4046400	Active TSS	HSMM	muscle
19	chr7:4045400-4047000	Flanking Active TSS	HepG2	liver
20	chr7:4045600-4046000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:4045600-4046200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:4045600-4046200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:4045600-4047000	Flanking Active TSS	NHEK	skin
24	chr7:4045600-4047200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:4045800-4046000	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:4045800-4046200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:4045800-4046200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:4045800-4046200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr7:4045800-4046200	Active TSS	HMEC	breast
30	chr7:4045800-4046400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:4045800-4046400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:4045800-4046400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:4045800-4046400	Active TSS	Brain Cingulate Gyrus	brain
34	chr7:4045800-4046400	Active TSS	NH-A	brain
35	chr7:4045800-4046600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:4045800-4046600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:4045800-4046600	Weak transcription	Brain Angular Gyrus	brain
38	chr7:4045800-4046600	Active TSS	Brain Anterior Caudate	brain
39	chr7:4045800-4046600	Active TSS	Brain Hippocampus Middle	brain
40	chr7:4045800-4046600	Enhancers	HSMMtube	muscle
41	chr7:4045800-4046600	Active TSS	Osteobl	bone
42	chr7:4045800-4046800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:4045800-4046800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:4045800-4047000	Enhancers	Liver	Liver
45	chr7:4045800-4047200	Enhancers	Fetal Brain Female	brain
46	chr7:4045800-4047800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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