Variant report

Variant	rs3007319
Chromosome Location	chr1:246892826-246892827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246890586..246893581-chr1:246920009..246921935,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12085330	1.00[YRI][hapmap]
rs12122102	1.00[YRI][hapmap]
rs3007322	1.00[YRI][hapmap]
rs3007324	1.00[YRI][hapmap]
rs7416239	1.00[YRI][hapmap]
rs9426218	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv870294	chr1:246877043-246927940	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:246888400-246896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:246888400-246900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:246888400-246902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:246888400-246903800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
7	chr1:246888600-246893400	Weak transcription	Primary B cells from cord blood	blood
8	chr1:246888600-246901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246888800-246897400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:246888800-246904000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:246888800-246904800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:246889000-246893400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:246889000-246893400	Weak transcription	A549	lung
15	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
16	chr1:246889200-246900600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:246889400-246893600	Weak transcription	Fetal Brain Male	brain
18	chr1:246889400-246894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:246889600-246907000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:246890000-246894600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:246890000-246895000	Strong transcription	Fetal Kidney	kidney
22	chr1:246890200-246894000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr1:246890200-246895000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:246890200-246895000	Strong transcription	HUVEC	blood vessel
25	chr1:246890200-246895400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:246890200-246896400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:246890200-246896400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:246890200-246897800	Strong transcription	Fetal Lung	lung
29	chr1:246890200-246898200	Strong transcription	Primary T cells from cord blood	blood
30	chr1:246890200-246898200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:246890200-246901000	Strong transcription	Osteobl	bone
32	chr1:246890200-246901200	Strong transcription	Fetal Brain Female	brain
33	chr1:246890200-246901200	Strong transcription	HSMMtube	muscle
34	chr1:246890200-246901600	Strong transcription	Fetal Thymus	thymus
35	chr1:246890200-246901600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:246890200-246902800	Strong transcription	Left Ventricle	heart
37	chr1:246890200-246905000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:246890200-246906600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:246890200-246913200	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:246890400-246894200	Strong transcription	Psoas Muscle	Psoas
41	chr1:246890400-246894600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:246890400-246895000	Strong transcription	NHDF-Ad	bronchial
43	chr1:246890400-246896600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:246890400-246896800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:246890400-246907400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:246890400-246909000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:246890600-246893600	Strong transcription	Fetal Intestine Large	intestine
48	chr1:246890600-246905000	Strong transcription	Brain Anterior Caudate	brain
49	chr1:246890600-246907600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:246890600-246914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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