Variant report

Variant	rs8006981
Chromosome Location	chr14:63944593-63944594
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	E2F4	chr14:63944582-63944669	MCF10A-Er-Src	breast:	n/a	n/a
2	CHD1	chr14:63944434-63945304	GM12878	blood:	n/a	n/a
3	TAL1	chr14:63944280-63944623	K562	blood:	n/a	chr14:63944433-63944451 chr14:63944432-63944440
4	NFIC	chr14:63944567-63945705	GM12878	blood:	n/a	n/a
5	MTA3	chr14:63944574-63945619	GM12878	blood:	n/a	n/a
6	ATF2	chr14:63944593-63945608	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252800	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1012145	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10129170	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10130074	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10132996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10133014	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137243	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10137259	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10137279	0.99[EUR][1000 genomes]
rs10138187	1.00[EUR][1000 genomes]
rs10138274	1.00[EUR][1000 genomes]
rs10138372	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10138832	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10139028	0.99[EUR][1000 genomes]
rs10139725	1.00[EUR][1000 genomes]
rs10140710	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140718	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10141179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10144700	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145422	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10146848	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10148185	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10149549	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10152067	0.99[EUR][1000 genomes]
rs1033742	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1033744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1033745	0.98[EUR][1000 genomes]
rs1033747	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483773	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158492	0.97[EUR][1000 genomes]
rs11158493	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11850626	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12323479	1.00[EUR][1000 genomes]
rs12433708	0.82[EUR][1000 genomes]
rs12434321	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1475040	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17093492	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101205	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101207	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17101239	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17101242	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17225252	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17225266	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825105	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1951212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951213	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957045	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016629	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2064953	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2064954	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180876	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28372244	0.99[EUR][1000 genomes]
rs28394515	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28496722	0.98[EUR][1000 genomes]
rs28522688	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28560307	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579385	0.99[EUR][1000 genomes]
rs28592209	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28620591	1.00[EUR][1000 genomes]
rs28683743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28696283	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28711489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28758626	0.99[EUR][1000 genomes]
rs3783741	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3783743	1.00[EUR][1000 genomes]
rs4391977	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4899113	1.00[EUR][1000 genomes]
rs4902226	1.00[EUR][1000 genomes]
rs4902227	1.00[EUR][1000 genomes]
rs4902229	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902232	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55859128	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57760311	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60644154	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61627079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573517	0.82[EUR][1000 genomes]
rs6573518	0.99[EUR][1000 genomes]
rs6573519	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6573520	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573521	0.81[EUR][1000 genomes]
rs67442217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140763	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143816	0.99[EUR][1000 genomes]
rs7144120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146069	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7147222	0.99[EUR][1000 genomes]
rs7152839	1.00[EUR][1000 genomes]
rs7153764	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154559	0.98[EUR][1000 genomes]
rs7161634	1.00[EUR][1000 genomes]
rs72714239	0.99[EUR][1000 genomes]
rs72714243	0.82[EUR][1000 genomes]
rs72714258	0.97[EUR][1000 genomes]
rs72714280	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72714283	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003115	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8003144	0.99[EUR][1000 genomes]
rs8003246	1.00[EUR][1000 genomes]
rs8003647	0.99[EUR][1000 genomes]
rs8003956	0.99[EUR][1000 genomes]
rs8004170	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007996	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014486	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8016306	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017184	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8018107	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8018128	0.97[EUR][1000 genomes]
rs8018307	0.99[EUR][1000 genomes]
rs8018721	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63921000-63944600	Weak transcription	Dnd41	blood
2	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
8	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:63938600-63944600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:63938600-63945200	Weak transcription	NHDF-Ad	bronchial
11	chr14:63938600-63948800	Weak transcription	HSMM	muscle
12	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
13	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:63938800-63958800	Weak transcription	Osteobl	bone
16	chr14:63939000-63944800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:63939400-63944800	Weak transcription	NHLF	lung
19	chr14:63939600-63945600	Weak transcription	Lung	lung
20	chr14:63939600-63949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:63939600-63950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:63939800-63944600	Weak transcription	Adipose Nuclei	Adipose
25	chr14:63939800-63950200	Weak transcription	Gastric	stomach
26	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:63940400-63947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:63940600-63948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:63940800-63944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:63940800-63950800	Weak transcription	NHEK	skin
31	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:63941000-63946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:63941000-63953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:63941000-63953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:63941200-63945600	Weak transcription	Stomach Mucosa	stomach
36	chr14:63941200-63946000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:63941200-63947400	Weak transcription	Hela-S3	cervix
38	chr14:63941200-63950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:63941400-63944800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:63941400-63948800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:63941600-63945200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:63941800-63944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:63941800-63945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
47	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
48	chr14:63942000-63949400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:63942000-63950200	Weak transcription	Aorta	Aorta
50	chr14:63942000-63950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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