Variant report

Variant	rs1579030
Chromosome Location	chr3:119630278-119630279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119628793..119630341-chr3:119631140..119633914,2	K562	blood:
2	chr3:119629683..119632180-chr3:119812934..119815456,2	K562	blood:
3	chr3:119628367..119630716-chr3:119632308..119634691,2	MCF-7	breast:
4	chr3:119629935..119635391-chr3:119636173..119640969,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1037974	0.80[AFR][1000 genomes]
rs1579032	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17246730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17246737	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28821007	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3732358	1.00[ASN][1000 genomes]
rs4491944	0.90[AFR][1000 genomes]
rs4552394	0.85[AMR][1000 genomes]
rs57027844	0.85[AFR][1000 genomes]
rs57265162	1.00[ASN][1000 genomes]
rs58299321	0.90[AFR][1000 genomes]
rs58371446	0.85[AFR][1000 genomes]
rs58991487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59368677	0.90[AFR][1000 genomes]
rs60675046	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60993278	0.80[AFR][1000 genomes]
rs61091679	1.00[EUR][1000 genomes]
rs61188334	0.80[AFR][1000 genomes]
rs61511292	0.80[AFR][1000 genomes]
rs61566983	0.80[AFR][1000 genomes]
rs6796550	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72548703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854776	1.00[EUR][1000 genomes]
rs9812149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834346	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9843795	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9849889	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853463	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872321	0.85[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	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	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:119583800-119630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:119597600-119659000	Weak transcription	Gastric	stomach
5	chr3:119608000-119643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:119608200-119639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:119611200-119643400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
10	chr3:119611400-119630600	Weak transcription	Small Intestine	intestine
11	chr3:119611400-119631000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:119611400-119632200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:119611400-119632200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:119611400-119634600	Weak transcription	Spleen	Spleen
15	chr3:119611400-119642000	Weak transcription	Fetal Brain Male	brain
16	chr3:119611400-119649400	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
18	chr3:119613000-119637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:119614200-119645200	Weak transcription	K562	blood
20	chr3:119617400-119631000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:119618400-119631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:119618400-119639800	Weak transcription	NHLF	lung
23	chr3:119620600-119635800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:119621200-119631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:119621200-119631400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:119621200-119639600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:119621400-119632400	Strong transcription	Primary B cells from cord blood	blood
28	chr3:119621600-119632400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:119621800-119630800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:119621800-119631000	Strong transcription	Dnd41	blood
31	chr3:119621800-119639000	Weak transcription	Fetal Intestine Small	intestine
32	chr3:119622000-119633600	Weak transcription	Colonic Mucosa	Colon
33	chr3:119622200-119640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:119623400-119631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:119624600-119634400	Weak transcription	HepG2	liver
36	chr3:119624600-119642200	Weak transcription	Brain Germinal Matrix	brain
37	chr3:119624800-119630400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:119624800-119630600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:119624800-119630800	Weak transcription	Placenta	Placenta
40	chr3:119624800-119635400	Weak transcription	A549	lung
41	chr3:119625000-119631200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
43	chr3:119625400-119630400	Weak transcription	NHDF-Ad	bronchial
44	chr3:119625800-119635600	Weak transcription	Osteobl	bone
45	chr3:119626200-119633800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr3:119627200-119630600	Strong transcription	GM12878-XiMat	blood
47	chr3:119627200-119631000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:119627200-119631200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:119627200-119634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:119627400-119631800	Strong transcription	Primary monocytes fromperipheralblood	blood

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