Variant report

Variant	rs922337
Chromosome Location	chr3:119747403-119747404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119745451..119747987-chr3:119811711..119814390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1037974	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13322562	1.00[ASN][1000 genomes]
rs1579032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17246730	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17246737	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1903764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28821007	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34002644	1.00[ASN][1000 genomes]
rs3732358	1.00[AMR][1000 genomes]
rs3755556	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs4491944	1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57027844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57132942	1.00[ASN][1000 genomes]
rs58299321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58371446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58991487	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59368677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59703574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60049973	1.00[ASN][1000 genomes]
rs60325644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs61188334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61511292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61566983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6796550	1.00[ASN][1000 genomes]
rs72548703	0.81[AFR][1000 genomes]
rs9812149	1.00[ASN][1000 genomes]
rs9834346	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9843795	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9849889	1.00[JPT][hapmap]
rs9853463	1.00[JPT][hapmap]
rs9865193	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9867915	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9872321	1.00[JPT][hapmap]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119731400-119752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:119732200-119747600	Weak transcription	Right Ventricle	heart
3	chr3:119732600-119748400	Weak transcription	Brain Angular Gyrus	brain
4	chr3:119732600-119748600	Weak transcription	HSMM	muscle
5	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:119732800-119749200	Weak transcription	Fetal Stomach	stomach
7	chr3:119734800-119750000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:119735000-119751600	Weak transcription	Primary B cells from cord blood	blood
9	chr3:119737000-119749400	Weak transcription	Stomach Mucosa	stomach
10	chr3:119737000-119751800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:119737400-119751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:119737400-119754000	Weak transcription	Small Intestine	intestine
13	chr3:119737800-119757200	Weak transcription	A549	lung
14	chr3:119739400-119756000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:119739600-119749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:119740000-119747600	Weak transcription	Pancreas	Pancrea
17	chr3:119740000-119758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:119740600-119748400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:119740800-119753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:119741000-119758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:119741200-119748400	Weak transcription	HSMMtube	muscle
22	chr3:119741200-119758400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:119741600-119749000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:119741800-119747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:119741800-119753600	Weak transcription	Thymus	Thymus
26	chr3:119742000-119748400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:119742000-119754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:119742000-119758000	Weak transcription	NHDF-Ad	bronchial
29	chr3:119742400-119747600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:119742600-119752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:119742600-119757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:119743200-119747600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:119744200-119747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:119744200-119748400	Weak transcription	Spleen	Spleen
35	chr3:119744200-119758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:119744400-119758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:119744800-119751600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:119744800-119753600	Weak transcription	Fetal Thymus	thymus
39	chr3:119744800-119758000	Weak transcription	NHEK	skin
40	chr3:119745000-119748000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:119745000-119750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:119745000-119751800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:119745000-119757000	Weak transcription	Dnd41	blood
44	chr3:119745200-119747600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:119745200-119748400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:119745200-119750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:119745200-119758400	Weak transcription	HepG2	liver
48	chr3:119745400-119748400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:119745400-119751800	Weak transcription	Primary T cells from cord blood	blood
50	chr3:119745400-119758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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