Variant report

Variant	rs66650215
Chromosome Location	chr3:119657271-119657272
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119655041..119657977-chr3:119815420..119818415,2	K562	blood:
2	chr3:119651638..119653513-chr3:119656537..119658183,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1154596	0.97[ASN][1000 genomes]
rs1154597	0.97[ASN][1000 genomes]
rs11921053	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12494560	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13312998	0.97[ASN][1000 genomes]
rs13314595	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1579031	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1626696	0.88[ASN][1000 genomes]
rs16830683	0.91[ASN][1000 genomes]
rs16830689	0.82[EUR][1000 genomes]
rs1719888	0.88[ASN][1000 genomes]
rs1719889	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1719895	0.94[ASN][1000 genomes]
rs1732165	0.94[ASN][1000 genomes]
rs1732169	0.94[ASN][1000 genomes]
rs182839	0.91[ASN][1000 genomes]
rs2037547	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2461827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28516957	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3108749	0.94[ASN][1000 genomes]
rs334534	0.91[ASN][1000 genomes]
rs334535	0.82[EUR][1000 genomes]
rs334536	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334551	0.83[ASN][1000 genomes]
rs334552	0.91[ASN][1000 genomes]
rs334554	0.91[ASN][1000 genomes]
rs334559	0.82[EUR][1000 genomes]
rs334560	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334561	0.88[ASN][1000 genomes]
rs334566	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3853592	0.97[ASN][1000 genomes]
rs4072520	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4438691	0.94[ASN][1000 genomes]
rs4450859	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4605584	0.88[ASN][1000 genomes]
rs4688043	0.94[ASN][1000 genomes]
rs56126162	0.81[ASN][1000 genomes]
rs58043853	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60272712	0.97[ASN][1000 genomes]
rs6438554	0.97[ASN][1000 genomes]
rs6438555	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6762640	0.97[ASN][1000 genomes]
rs6769435	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6770314	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6771023	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6774693	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6775397	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6779828	0.82[EUR][1000 genomes]
rs6784239	0.97[ASN][1000 genomes]
rs6785050	0.97[ASN][1000 genomes]
rs6790751	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6795874	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6797689	0.91[ASN][1000 genomes]
rs6802301	0.83[EUR][1000 genomes]
rs6805931	0.91[ASN][1000 genomes]
rs6807868	0.97[ASN][1000 genomes]
rs7613197	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7617372	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7620750	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7624540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7628426	0.91[ASN][1000 genomes]
rs7635604	0.97[ASN][1000 genomes]
rs7636600	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7649661	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7650554	0.91[ASN][1000 genomes]
rs7652172	0.82[EUR][1000 genomes]
rs9289138	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs968824	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9784393	0.82[ASN][1000 genomes]
rs9851174	0.84[EUR][1000 genomes]
rs9859778	0.82[EUR][1000 genomes]
rs9879992	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	esv3505316	chr3:119654062-119658060	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3505317	chr3:119654512-119657910	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3489267	chr3:119657212-119658447	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3489268	chr3:119657212-119658447	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
6	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
7	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
8	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
9	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
10	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
11	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
15	chr3:119635400-119664600	Weak transcription	HMEC	breast
16	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:119640600-119664400	Weak transcription	HSMM	muscle
19	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:119640600-119672400	Weak transcription	Osteobl	bone
21	chr3:119640800-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
23	chr3:119641000-119661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:119641000-119662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:119641000-119663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
28	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
29	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:119641200-119666400	Weak transcription	HepG2	liver
31	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:119644400-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
35	chr3:119650200-119660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:119650200-119660800	Weak transcription	A549	lung
37	chr3:119650200-119669800	Weak transcription	Liver	Liver
38	chr3:119650400-119669600	Weak transcription	Left Ventricle	heart
39	chr3:119653400-119661600	Weak transcription	NHDF-Ad	bronchial
40	chr3:119653600-119669600	Weak transcription	Ovary	ovary
41	chr3:119654400-119657400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:119654800-119657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:119655200-119658000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:119655600-119657400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:119655600-119658200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:119655800-119657600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:119656000-119658200	Enhancers	Dnd41	blood
48	chr3:119656200-119657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:119656200-119658800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:119656200-119663400	Weak transcription	Duodenum Mucosa	Duodenum

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