Variant report

Variant	rs73854765
Chromosome Location	chr3:119750642-119750643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119744282..119747842-chr3:119748743..119751582,3	K562	blood:
2	chr3:119743278..119746755-chr3:119748847..119751492,3	MCF-7	breast:
3	chr3:119749048..119751712-chr3:119760033..119762668,2	K562	blood:
4	chr3:119748542..119750844-chr3:119754043..119755748,2	K562	blood:

Variant related genes	Relation type
ENSG00000241546	Chromatin interaction
ENSG00000239835	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55695126	1.00[AMR][1000 genomes]
rs55954491	1.00[AMR][1000 genomes]
rs56198526	1.00[AMR][1000 genomes]
rs58540702	1.00[AMR][1000 genomes]
rs6771503	1.00[AMR][1000 genomes]
rs6804704	1.00[AMR][1000 genomes]
rs73854728	1.00[AMR][1000 genomes]
rs73854729	1.00[AMR][1000 genomes]
rs73854739	1.00[AMR][1000 genomes]
rs73854744	1.00[AMR][1000 genomes]
rs73854747	1.00[AMR][1000 genomes]
rs73854749	1.00[AMR][1000 genomes]
rs73854751	1.00[AMR][1000 genomes]
rs73854753	1.00[AMR][1000 genomes]
rs73854755	1.00[AMR][1000 genomes]
rs73854757	1.00[AMR][1000 genomes]
rs73854762	1.00[AMR][1000 genomes]
rs73854767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7626888	1.00[AFR][1000 genomes];1.00[AMR][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:57 , 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	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:119735000-119751600	Weak transcription	Primary B cells from cord blood	blood
4	chr3:119737000-119751800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:119737400-119751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:119737400-119754000	Weak transcription	Small Intestine	intestine
7	chr3:119737800-119757200	Weak transcription	A549	lung
8	chr3:119739400-119756000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:119740000-119758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:119740800-119753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:119741000-119758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:119741200-119758400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:119741800-119753600	Weak transcription	Thymus	Thymus
14	chr3:119742000-119754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:119742000-119758000	Weak transcription	NHDF-Ad	bronchial
16	chr3:119742600-119752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:119742600-119757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:119744200-119758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:119744400-119758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:119744800-119751600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:119744800-119753600	Weak transcription	Fetal Thymus	thymus
22	chr3:119744800-119758000	Weak transcription	NHEK	skin
23	chr3:119745000-119751800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:119745000-119757000	Weak transcription	Dnd41	blood
25	chr3:119745200-119758400	Weak transcription	HepG2	liver
26	chr3:119745400-119751800	Weak transcription	Primary T cells from cord blood	blood
27	chr3:119745400-119758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:119747400-119756200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:119747600-119758400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:119747800-119757000	Weak transcription	Lung	lung
31	chr3:119747800-119757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:119747800-119757200	Weak transcription	Ovary	ovary
33	chr3:119747800-119758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:119748000-119758000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:119748400-119756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:119748600-119755800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:119748800-119753600	Weak transcription	Left Ventricle	heart
38	chr3:119748800-119754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:119748800-119756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:119748800-119757800	Weak transcription	Right Ventricle	heart
41	chr3:119749000-119753000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:119749000-119758400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:119749200-119753600	Weak transcription	Psoas Muscle	Psoas
44	chr3:119749400-119755200	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:119749600-119758000	Weak transcription	HSMM	muscle
46	chr3:119749800-119753200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:119750000-119753400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:119750200-119750800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:119750200-119757000	Weak transcription	Esophagus	oesophagus
50	chr3:119750400-119752600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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