Variant report

Variant	rs6696675
Chromosome Location	chr1:45308409-45308410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
2	chr1:45306094..45308477-chr1:45314879..45317391,2	K562	blood:
3	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
4	chr1:45194535..45197095-chr1:45307118..45309179,4	K562	blood:
5	chr1:45195257..45196854-chr1:45307118..45309179,2	K562	blood:
6	chr1:45307699..45310286-chr1:45986112..45988725,2	K562	blood:
7	chr1:45185746..45188870-chr1:45307191..45310438,4	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158188	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211046	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211047	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573543	0.94[ASN][1000 genomes]
rs11584031	0.80[EUR][1000 genomes]
rs12059964	0.83[ASN][1000 genomes]
rs12094007	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118515	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12120470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144803	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1226572	0.84[ASN][1000 genomes]
rs12408818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568071	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568279	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273940	0.93[EUR][1000 genomes]
rs263956	0.83[ASN][1000 genomes]
rs263962	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263965	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs263966	0.82[ASN][1000 genomes]
rs263975	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263977	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263980	0.82[ASN][1000 genomes]
rs263987	0.84[ASN][1000 genomes]
rs264005	0.82[ASN][1000 genomes]
rs264009	0.82[ASN][1000 genomes]
rs3121173	0.82[ASN][1000 genomes]
rs36107413	0.82[ASN][1000 genomes]
rs3795720	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs438493	0.82[ASN][1000 genomes]
rs452989	0.82[ASN][1000 genomes]
rs6429548	0.82[ASN][1000 genomes]
rs6688465	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698951	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514741	0.92[EUR][1000 genomes]
rs7525308	0.93[EUR][1000 genomes]
rs7526786	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7545808	0.93[EUR][1000 genomes]
rs7554177	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932691	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429058	0.82[ASN][1000 genomes]
rs9645347	0.93[EUR][1000 genomes]
rs9988451	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
9	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45307400-45308600	Flanking Active TSS	Fetal Brain Female	brain
2	chr1:45307400-45308600	Flanking Active TSS	HepG2	liver
3	chr1:45307600-45308600	Flanking Active TSS	Fetal Brain Male	brain
4	chr1:45307600-45309400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:45307600-45309400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:45307800-45309200	Active TSS	Fetal Stomach	stomach
7	chr1:45307800-45309200	Active TSS	Ovary	ovary
8	chr1:45307800-45309400	Active TSS	Fetal Kidney	kidney
9	chr1:45308000-45309200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:45308000-45309200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:45308000-45309400	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:45308200-45308600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:45308200-45308600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr1:45308200-45308600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:45308200-45308600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:45308200-45308600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:45308200-45308600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:45308200-45308600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:45308200-45308600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:45308200-45308600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:45308200-45308600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr1:45308200-45308600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr1:45308200-45308600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr1:45308200-45308600	Flanking Active TSS	Fetal Lung	lung
25	chr1:45308200-45308600	Enhancers	Placenta	Placenta
26	chr1:45308200-45308600	Enhancers	Gastric	stomach
27	chr1:45308200-45308600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
28	chr1:45308200-45308600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:45308200-45308600	Flanking Active TSS	K562	blood
30	chr1:45308200-45308600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr1:45308200-45308800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:45308200-45308800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:45308200-45308800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:45308200-45308800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:45308200-45308800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:45308200-45308800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:45308200-45308800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:45308200-45308800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:45308200-45308800	Flanking Bivalent TSS/Enh	Dnd41	blood
40	chr1:45308200-45308800	Flanking Active TSS	Osteobl	bone
41	chr1:45308200-45309000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:45308200-45309000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr1:45308200-45309000	Enhancers	Lung	lung
44	chr1:45308200-45309200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:45308200-45309200	Active TSS	Primary T cells from cord blood	blood
46	chr1:45308200-45309400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:45308200-45309400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:45308200-45309400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr1:45308200-45309400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:45308200-45309400	Active TSS	Pancreatic Islets	Pancreatic Islet

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