Variant report

Variant	rs3007321
Chromosome Location	chr1:246893937-246893938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246892991..246894648-chr1:246905649..246907819,2	MCF-7	breast:
2	chr1:246892836..246895374-chr1:246896028..246898230,2	K562	blood:
3	chr1:246886185..246892082-chr1:246893127..246900077,11	K562	blood:

Variant related genes	Relation type
ENSG00000143653	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10732299	1.00[AMR][1000 genomes]
rs10924822	1.00[AMR][1000 genomes]
rs12040914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069175	1.00[AMR][1000 genomes]
rs12071299	1.00[AMR][1000 genomes]
rs1691257	1.00[AMR][1000 genomes]
rs1779973	1.00[AMR][1000 genomes]
rs1779976	1.00[AMR][1000 genomes]
rs2996552	1.00[AMR][1000 genomes]
rs3007320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3122533	1.00[AMR][1000 genomes]
rs4244625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244626	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244631	0.87[AFR][1000 genomes]
rs4511163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4532864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926463	1.00[AMR][1000 genomes]
rs6426335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663093	1.00[AMR][1000 genomes]
rs6696798	1.00[AMR][1000 genomes]
rs7416659	1.00[AMR][1000 genomes]
rs923972	1.00[AMR][1000 genomes]
rs9426266	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9426274	1.00[AMR][1000 genomes]

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:246888400-246900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:246888400-246902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:246888400-246903800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
6	chr1:246888600-246901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:246888800-246897400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:246888800-246904000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:246888800-246904800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
12	chr1:246889200-246900600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:246889400-246894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:246889600-246907000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:246890000-246894600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:246890000-246895000	Strong transcription	Fetal Kidney	kidney
17	chr1:246890200-246894000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:246890200-246895000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:246890200-246895000	Strong transcription	HUVEC	blood vessel
20	chr1:246890200-246895400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:246890200-246896400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:246890200-246896400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:246890200-246897800	Strong transcription	Fetal Lung	lung
24	chr1:246890200-246898200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:246890200-246898200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:246890200-246901000	Strong transcription	Osteobl	bone
27	chr1:246890200-246901200	Strong transcription	Fetal Brain Female	brain
28	chr1:246890200-246901200	Strong transcription	HSMMtube	muscle
29	chr1:246890200-246901600	Strong transcription	Fetal Thymus	thymus
30	chr1:246890200-246901600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:246890200-246902800	Strong transcription	Left Ventricle	heart
32	chr1:246890200-246905000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:246890200-246906600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:246890200-246913200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:246890400-246894200	Strong transcription	Psoas Muscle	Psoas
36	chr1:246890400-246894600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:246890400-246895000	Strong transcription	NHDF-Ad	bronchial
38	chr1:246890400-246896600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:246890400-246896800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:246890400-246907400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:246890400-246909000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:246890600-246905000	Strong transcription	Brain Anterior Caudate	brain
43	chr1:246890600-246907600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:246890600-246914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:246890800-246894800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:246890800-246895000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:246890800-246895000	Strong transcription	Ovary	ovary
48	chr1:246890800-246895600	Strong transcription	NHLF	lung
49	chr1:246890800-246896200	Strong transcription	Colon Smooth Muscle	Colon
50	chr1:246890800-246897000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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