Variant report

Variant	rs3219495
Chromosome Location	chr1:45796115-45796116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45794537..45798205-chr1:45802201..45806836,5	MCF-7	breast:
2	chr1:45791057..45793075-chr1:45795554..45797177,2	MCF-7	breast:
3	chr1:45240561..45242696-chr1:45794444..45796919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264294	Chromatin interaction
ENSG00000186603	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132773	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28472700	0.81[AFR][1000 genomes]
rs3893383	0.85[LWK][hapmap]
rs55786026	0.81[AFR][1000 genomes]
rs56015816	0.97[AFR][1000 genomes]
rs56328440	0.87[AFR][1000 genomes]
rs59831088	0.81[AFR][1000 genomes]
rs6692066	0.88[AFR][1000 genomes]
rs72890585	0.82[AFR][1000 genomes]
rs72890600	0.81[AFR][1000 genomes]
rs7519633	0.82[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45787200-45796600	Weak transcription	HepG2	liver
2	chr1:45792400-45800600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45792800-45804800	Weak transcription	Fetal Kidney	kidney
4	chr1:45792800-45805000	Weak transcription	HSMMtube	muscle
5	chr1:45793000-45796800	Weak transcription	HSMM	muscle
6	chr1:45793200-45796200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:45793200-45796600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:45793200-45796800	Weak transcription	Osteobl	bone
9	chr1:45793200-45797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:45793200-45804800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:45793400-45796600	Weak transcription	Right Ventricle	heart
12	chr1:45793400-45796800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:45793400-45796800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:45793400-45796800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:45793400-45803800	Weak transcription	Small Intestine	intestine
16	chr1:45793400-45804000	Weak transcription	HMEC	breast
17	chr1:45793400-45805000	Weak transcription	Right Atrium	heart
18	chr1:45793600-45796600	Weak transcription	Primary B cells from cord blood	blood
19	chr1:45793600-45796600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:45793600-45796800	Weak transcription	Fetal Lung	lung
21	chr1:45793600-45797200	Weak transcription	Left Ventricle	heart
22	chr1:45793600-45797200	Enhancers	Stomach Mucosa	stomach
23	chr1:45793600-45800600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:45793600-45800800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:45793600-45803600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:45793600-45803600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:45793600-45804200	Weak transcription	Fetal Brain Male	brain
28	chr1:45793800-45796200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:45793800-45796800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:45793800-45796800	Weak transcription	Colonic Mucosa	Colon
31	chr1:45793800-45799800	Weak transcription	HUVEC	blood vessel
32	chr1:45793800-45803800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:45794000-45796200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:45794000-45796200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:45794000-45796800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:45794000-45796800	Strong transcription	Spleen	Spleen
37	chr1:45794000-45796800	Weak transcription	NHLF	lung
38	chr1:45794000-45799600	Weak transcription	Fetal Heart	heart
39	chr1:45794000-45800000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:45794000-45800200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:45794000-45800600	Strong transcription	Fetal Stomach	stomach
42	chr1:45794200-45799800	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:45794400-45799600	Strong transcription	Brain Substantia Nigra	brain
44	chr1:45794400-45799800	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:45794400-45799800	Strong transcription	Lung	lung
46	chr1:45794400-45800000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:45794400-45800200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:45794400-45800400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:45794400-45800600	Strong transcription	Aorta	Aorta
50	chr1:45794400-45800800	Strong transcription	Fetal Brain Female	brain

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