Variant report

Variant	rs2047626
Chromosome Location	chr3:56845727-56845728
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:56845402..56847189-chr3:56872828..56874737,2	MCF-7	breast:
2	chr3:56843995..56846689-chr3:56863654..56866290,2	MCF-7	breast:
3	chr3:56833925..56836321-chr3:56845531..56847364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163947	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17057321	0.93[ASN][1000 genomes]
rs17216782	0.88[CHB][hapmap];0.87[JPT][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59475336	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59870621	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73833732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7433156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622820	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56836400-56845800	Weak transcription	Lung	lung
2	chr3:56836800-56846000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:56836800-56846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:56840800-56845800	Weak transcription	Esophagus	oesophagus
5	chr3:56840800-56845800	Weak transcription	Fetal Heart	heart
6	chr3:56840800-56847800	Weak transcription	Right Ventricle	heart
7	chr3:56840800-56861000	Weak transcription	Left Ventricle	heart
8	chr3:56841000-56847000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:56841000-56847200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:56841600-56845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:56841600-56845800	Weak transcription	Fetal Brain Female	brain
12	chr3:56844000-56846000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:56844000-56853000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:56844200-56847000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:56844200-56848000	Enhancers	Placenta	Placenta
16	chr3:56844200-56853400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:56844200-56853400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:56844400-56853000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:56844600-56846400	Enhancers	Dnd41	blood
20	chr3:56844600-56847000	Enhancers	Primary T cells from cord blood	blood
21	chr3:56844600-56847200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:56844600-56848800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:56844600-56853000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:56844800-56846800	Enhancers	Hela-S3	cervix
25	chr3:56844800-56847200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr3:56844800-56847600	Enhancers	Fetal Lung	lung
27	chr3:56844800-56848200	Enhancers	HMEC	breast
28	chr3:56844800-56848200	Enhancers	NHEK	skin
29	chr3:56844800-56848400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:56844800-56848600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:56844800-56848600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:56845000-56845800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:56845000-56846200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:56845000-56846400	Enhancers	Fetal Muscle Leg	muscle
35	chr3:56845000-56847000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:56845000-56848000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:56845000-56848000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:56845000-56848000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:56845000-56848200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr3:56845000-56848200	Enhancers	HepG2	liver
41	chr3:56845000-56848400	Enhancers	Fetal Thymus	thymus
42	chr3:56845200-56846600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:56845200-56847600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:56845200-56848200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:56845400-56845800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:56845400-56847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:56845400-56848000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:56845400-56857400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:56845600-56845800	Enhancers	Fetal Kidney	kidney
50	chr3:56845600-56846000	Enhancers	Brain Angular Gyrus	brain

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