Variant report

Variant	rs59703574
Chromosome Location	chr3:119786542-119786543
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	chr3:119786075..119788213-chr3:119810511..119815525,4	MCF-7	breast:
2	chr3:119786174..119787681-chr3:119792376..119794178,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1037974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13322562	0.86[ASN][1000 genomes]
rs1579032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17246730	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17246737	0.86[ASN][1000 genomes]
rs1903764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28821007	0.86[ASN][1000 genomes]
rs34002644	0.86[ASN][1000 genomes]
rs4491944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57027844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57132942	0.86[ASN][1000 genomes]
rs58299321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58371446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58991487	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59368677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60049973	0.86[ASN][1000 genomes]
rs60325644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60675046	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60993278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61188334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61511292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61566983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6796550	0.86[ASN][1000 genomes]
rs72548703	0.81[AFR][1000 genomes]
rs922337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9812149	0.86[ASN][1000 genomes]
rs9834346	0.86[ASN][1000 genomes]
rs9843795	0.86[ASN][1000 genomes]
rs9865193	0.86[ASN][1000 genomes]
rs9867915	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119760200-119805400	Weak transcription	HMEC	breast
2	chr3:119764600-119812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:119768800-119792800	Weak transcription	Fetal Stomach	stomach
4	chr3:119769200-119804400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:119771400-119809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:119771800-119805400	Weak transcription	NHEK	skin
7	chr3:119773200-119807600	Weak transcription	Right Ventricle	heart
8	chr3:119773800-119787800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:119774000-119789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:119775800-119790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:119775800-119796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:119775800-119797600	Weak transcription	Fetal Thymus	thymus
13	chr3:119778800-119787800	Weak transcription	Primary B cells from cord blood	blood
14	chr3:119778800-119791200	Weak transcription	Fetal Brain Female	brain
15	chr3:119778800-119796000	Weak transcription	NHDF-Ad	bronchial
16	chr3:119778800-119796400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:119779000-119788200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:119779200-119789200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:119779200-119789200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:119779200-119789200	Weak transcription	A549	lung
21	chr3:119779400-119789200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:119779400-119804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:119779400-119807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:119779600-119787800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:119779600-119789200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:119779600-119789600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:119779600-119789800	Weak transcription	Small Intestine	intestine
28	chr3:119779600-119793000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:119779600-119800200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:119779600-119807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:119779800-119793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:119780000-119788200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:119780600-119807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:119781800-119788000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:119782000-119789800	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:119782800-119790200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:119783600-119789600	Weak transcription	HepG2	liver
38	chr3:119783800-119789200	Weak transcription	Brain Anterior Caudate	brain
39	chr3:119784400-119789200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:119784400-119796400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:119784400-119797200	Weak transcription	Thymus	Thymus
42	chr3:119784800-119789400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:119785200-119787800	Weak transcription	GM12878-XiMat	blood
44	chr3:119785200-119789400	Weak transcription	Primary T cells from cord blood	blood
45	chr3:119785200-119792000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:119785400-119796800	Weak transcription	Dnd41	blood
47	chr3:119785600-119787000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:119786000-119786600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:119786000-119786600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr3:119786000-119786600	Enhancers	Pancreatic Islets	Pancreatic Islet

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