Variant report

Variant	rs6438579
Chromosome Location	chr3:120065209-120065210
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	chr3:120059782..120066077-chr3:120066537..120070898,10	K562	blood:

Variant related genes	Relation type
ENSG00000163428	Chromatin interaction
ENSG00000240661	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1085612	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1085613	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1092829	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147682	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1147683	0.90[AFR][1000 genomes]
rs1147686	0.90[AFR][1000 genomes]
rs1147687	0.90[AFR][1000 genomes]
rs1147691	0.90[AFR][1000 genomes]
rs1147692	0.90[AFR][1000 genomes]
rs1147704	0.85[AFR][1000 genomes]
rs11717787	0.83[ASN][1000 genomes]
rs1259290	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1259297	0.81[AFR][1000 genomes]
rs12638445	0.91[ASN][1000 genomes]
rs1515576	0.99[ASN][1000 genomes]
rs1588890	0.90[AFR][1000 genomes]
rs1588891	0.90[AFR][1000 genomes]
rs1606872	0.85[AFR][1000 genomes]
rs1606873	0.90[AFR][1000 genomes]
rs1615793	0.90[AFR][1000 genomes]
rs1623323	0.90[AFR][1000 genomes]
rs1716846	0.90[AFR][1000 genomes]
rs1733325	0.90[AFR][1000 genomes]
rs1733327	0.90[AFR][1000 genomes]
rs1733329	0.90[AFR][1000 genomes]
rs1733331	0.90[AFR][1000 genomes]
rs1733353	0.90[AFR][1000 genomes]
rs1733354	0.90[AFR][1000 genomes]
rs2030413	0.86[ASN][1000 genomes]
rs2138259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638592	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2673704	0.81[AFR][1000 genomes]
rs2700260	0.81[AFR][1000 genomes]
rs2702156	0.90[AFR][1000 genomes]
rs2702164	0.90[AFR][1000 genomes]
rs2943754	0.90[AFR][1000 genomes]
rs6438576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622363	0.97[ASN][1000 genomes]
rs787197	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787199	0.85[ASN][1000 genomes]
rs787201	0.85[ASN][1000 genomes]
rs787210	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805080	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs810888	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs939499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950649	0.90[AFR][1000 genomes]
rs950650	0.90[AFR][1000 genomes]
rs9851825	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
2	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120044400-120066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:120045200-120066800	Weak transcription	Stomach Mucosa	stomach
5	chr3:120045600-120066800	Weak transcription	Colonic Mucosa	Colon
6	chr3:120048400-120066800	Weak transcription	Right Ventricle	heart
7	chr3:120050400-120066000	Weak transcription	Fetal Brain Male	brain
8	chr3:120051000-120067000	Weak transcription	Esophagus	oesophagus
9	chr3:120051200-120065600	Weak transcription	HMEC	breast
10	chr3:120051200-120066800	Weak transcription	Psoas Muscle	Psoas
11	chr3:120051200-120066800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:120051800-120065600	Weak transcription	Brain Angular Gyrus	brain
13	chr3:120052600-120067000	Weak transcription	Left Ventricle	heart
14	chr3:120053200-120066600	Weak transcription	Fetal Kidney	kidney
15	chr3:120053800-120066600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:120053800-120066600	Weak transcription	NH-A	brain
17	chr3:120054000-120066000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:120054200-120065600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:120054200-120065600	Weak transcription	Fetal Heart	heart
20	chr3:120054200-120065600	Weak transcription	NHEK	skin
21	chr3:120054200-120066600	Weak transcription	HUVEC	blood vessel
22	chr3:120054200-120066600	Weak transcription	K562	blood
23	chr3:120057800-120067000	Weak transcription	Small Intestine	intestine
24	chr3:120058400-120065600	Weak transcription	Brain Substantia Nigra	brain
25	chr3:120058400-120065800	Weak transcription	Brain Anterior Caudate	brain
26	chr3:120058600-120065800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:120058600-120066600	Weak transcription	Fetal Lung	lung
28	chr3:120059000-120066800	Weak transcription	Placenta	Placenta
29	chr3:120060800-120066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:120061000-120066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:120061200-120066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:120061200-120066600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:120061400-120066800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:120061400-120066800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:120061400-120066800	Weak transcription	Gastric	stomach
36	chr3:120061400-120067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:120061600-120065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:120061600-120066400	Weak transcription	Pancreas	Pancrea
39	chr3:120061600-120066600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:120061600-120066600	Weak transcription	Fetal Intestine Small	intestine
41	chr3:120061600-120066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:120061600-120067000	Weak transcription	Spleen	Spleen
43	chr3:120061800-120065400	Weak transcription	Brain Germinal Matrix	brain
44	chr3:120061800-120065800	Weak transcription	Fetal Stomach	stomach
45	chr3:120061800-120066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:120061800-120066800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:120062000-120065400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:120062000-120065600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:120062000-120065800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:120062000-120065800	Weak transcription	Colon Smooth Muscle	Colon

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