Variant report

Variant	rs58296567
Chromosome Location	chr4:129741381-129741382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129732203..129736510-chr4:129738670..129742463,5	MCF-7	breast:
2	chr4:129739255..129743318-chr4:129756229..129760124,4	K562	blood:
3	chr4:129730289..129733712-chr4:129739240..129742412,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs17013725	1.00[EUR][1000 genomes]
rs17013730	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013733	1.00[EUR][1000 genomes]
rs17013736	1.00[EUR][1000 genomes]
rs17013744	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013759	1.00[EUR][1000 genomes]
rs17013765	1.00[EUR][1000 genomes]
rs17013766	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013768	1.00[ASN][1000 genomes]
rs17013775	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013777	1.00[EUR][1000 genomes]
rs17013779	1.00[EUR][1000 genomes]
rs17013786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013787	1.00[EUR][1000 genomes]
rs17013789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013825	1.00[EUR][1000 genomes]
rs17013827	1.00[EUR][1000 genomes]
rs17013835	1.00[EUR][1000 genomes]
rs17013841	1.00[EUR][1000 genomes]
rs17013844	1.00[EUR][1000 genomes]
rs17013847	1.00[EUR][1000 genomes]
rs17013848	1.00[EUR][1000 genomes]
rs17013849	1.00[EUR][1000 genomes]
rs17013852	1.00[EUR][1000 genomes]
rs17013854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013857	1.00[EUR][1000 genomes]
rs17013862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013866	1.00[EUR][1000 genomes]
rs17013872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013873	1.00[EUR][1000 genomes]
rs17013877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013882	1.00[EUR][1000 genomes]
rs17013894	1.00[EUR][1000 genomes]
rs17013895	1.00[EUR][1000 genomes]
rs17013898	1.00[EUR][1000 genomes]
rs17013899	1.00[EUR][1000 genomes]
rs17013903	1.00[EUR][1000 genomes]
rs17303098	1.00[EUR][1000 genomes]
rs2004378	1.00[EUR][1000 genomes]
rs28635430	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816604	1.00[ASN][1000 genomes]
rs56180223	1.00[ASN][1000 genomes]
rs57153966	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57547066	1.00[EUR][1000 genomes]
rs58580868	1.00[EUR][1000 genomes]
rs58593491	1.00[EUR][1000 genomes]
rs58728331	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58755790	1.00[EUR][1000 genomes]
rs58922070	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58981205	1.00[EUR][1000 genomes]
rs59682469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60787284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61306978	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61620977	1.00[EUR][1000 genomes]
rs61696721	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848234	1.00[EUR][1000 genomes]
rs6850940	1.00[EUR][1000 genomes]
rs6855813	1.00[EUR][1000 genomes]
rs73846991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73850003	1.00[ASN][1000 genomes]
rs73850004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129734000-129741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:129734200-129746200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:129734200-129746200	Weak transcription	Ovary	ovary
4	chr4:129734200-129746800	Weak transcription	Fetal Stomach	stomach
5	chr4:129734200-129747000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:129734400-129742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:129734400-129745600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:129734400-129746000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:129734400-129746000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:129734400-129746200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:129734400-129751600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:129734400-129756400	Weak transcription	Aorta	Aorta
13	chr4:129734600-129743200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:129734600-129743800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:129734600-129743800	Weak transcription	NHEK	skin
16	chr4:129734600-129745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:129734600-129746400	Weak transcription	Right Ventricle	heart
18	chr4:129735000-129743200	Weak transcription	Adipose Nuclei	Adipose
19	chr4:129735000-129747000	Weak transcription	Primary B cells from cord blood	blood
20	chr4:129735200-129746400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:129735400-129744000	Weak transcription	Hela-S3	cervix
22	chr4:129735400-129748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129735400-129752200	Weak transcription	Fetal Brain Female	brain
24	chr4:129736400-129741800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:129736600-129741800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:129736600-129744600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:129737000-129743200	Weak transcription	HUVEC	blood vessel
28	chr4:129737600-129741800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:129737800-129744800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:129738400-129744400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:129738600-129749200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:129739000-129743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:129739400-129741600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:129739400-129741600	Enhancers	Pancreas	Pancrea
35	chr4:129739400-129744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:129739600-129741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:129739600-129741800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr4:129739600-129741800	Enhancers	Psoas Muscle	Psoas
39	chr4:129739800-129744000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:129740000-129741800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:129740000-129746400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:129740200-129741400	Enhancers	Fetal Heart	heart
43	chr4:129740200-129742400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:129740400-129741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:129740400-129741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:129740400-129742400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:129740400-129743800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:129740400-129749200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:129740600-129742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:129740600-129742600	Genic enhancers	K562	blood

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