Variant report

Variant	rs6426124
Chromosome Location	chr1:224624781-224624782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:224624700-224624850	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224620020..224622844-chr1:224624641..224626201,2	MCF-7	breast:

Variant related genes	Relation type
WDR26	TF binding region
ENSG00000143786	Chromatin interaction
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10733025	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10799575	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12078630	0.85[AMR][1000 genomes]
rs1573088	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2405045	0.85[AMR][1000 genomes]
rs2405048	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2897051	0.85[AMR][1000 genomes]
rs4233235	0.80[YRI][hapmap]
rs4233237	0.85[AMR][1000 genomes]
rs6426119	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426127	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6660212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675269	0.85[AMR][1000 genomes]
rs6687870	0.85[AMR][1000 genomes]
rs6692855	0.85[AMR][1000 genomes]
rs6694310	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538718	0.85[AMR][1000 genomes]
rs7544512	0.87[AFR][1000 genomes]
rs9970442	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224623200-224624800	Flanking Active TSS	GM12878-XiMat	blood
2	chr1:224623200-224626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224623200-224634800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:224623200-224644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224623400-224624800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:224623400-224624800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:224623400-224624800	Enhancers	Fetal Lung	lung
8	chr1:224623400-224625000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:224623400-224625200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:224623400-224626400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:224623400-224626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:224623400-224626800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:224623400-224628200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:224623400-224631600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:224623400-224633400	Weak transcription	Gastric	stomach
16	chr1:224623400-224634600	Weak transcription	Lung	lung
17	chr1:224623400-224634800	Weak transcription	Aorta	Aorta
18	chr1:224623400-224634800	Weak transcription	Left Ventricle	heart
19	chr1:224623400-224634800	Weak transcription	Ovary	ovary
20	chr1:224623400-224634800	Weak transcription	Right Atrium	heart
21	chr1:224623400-224638000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:224623400-224641000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:224623400-224643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:224623400-224644600	Weak transcription	Right Ventricle	heart
25	chr1:224623600-224624800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:224623600-224624800	Enhancers	Small Intestine	intestine
27	chr1:224623600-224625200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:224623600-224625200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:224623600-224625400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:224623600-224626800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:224623600-224627800	Weak transcription	Fetal Brain Female	brain
32	chr1:224623600-224627800	Weak transcription	Fetal Stomach	stomach
33	chr1:224623600-224628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:224623600-224628800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:224623600-224629800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:224623600-224630400	Weak transcription	Fetal Brain Male	brain
37	chr1:224623600-224635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:224623600-224635600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:224623600-224636200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:224623600-224637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:224623600-224642200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:224623600-224644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:224623600-224644600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:224623800-224624800	Enhancers	A549	lung
45	chr1:224623800-224625200	Enhancers	HepG2	liver
46	chr1:224623800-224626600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:224623800-224630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:224623800-224632600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:224623800-224634800	Weak transcription	Stomach Mucosa	stomach
50	chr1:224623800-224635000	Weak transcription	Monocytes-CD14+_RO01746	blood

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