Variant report

Variant	rs1957045
Chromosome Location	chr14:63942074-63942075
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	POLR2A	chr14:63942029-63942166	ProgFib	skin:	n/a	n/a
2	USF1	chr14:63941907-63942154	K562	blood:	n/a	chr14:63942051-63942060 chr14:63942050-63942063 chr14:63942052-63942061

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63934904..63936738-chr14:63941732..63944394,2	MCF-7	breast:
2	chr14:63941924..63943433-chr14:63948646..63951523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252800	TF binding region
RNU6-852P	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1012145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10129170	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10130074	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10132996	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10133014	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10137243	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137259	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10137279	0.99[EUR][1000 genomes]
rs10138187	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10138274	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10138372	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10138832	0.98[EUR][1000 genomes]
rs10139028	0.99[EUR][1000 genomes]
rs10139725	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs10140679	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10140710	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140718	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10141179	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144700	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10145422	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10146848	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148185	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs10149549	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10152067	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1033742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1033744	0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1033745	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1033747	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483773	1.00[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158492	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11158493	0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11850626	0.93[EUR][1000 genomes]
rs12323479	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12433708	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12434321	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475040	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17093492	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17101205	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17101207	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17101238	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17101239	0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17101242	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17225252	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17225266	1.00[EUR][1000 genomes]
rs17825105	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1951212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016629	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2064953	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2064954	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2180876	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28372244	0.99[EUR][1000 genomes]
rs28394515	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28496722	0.98[EUR][1000 genomes]
rs28522688	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28560307	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579385	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28592209	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28620591	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28683743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696283	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28711489	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28758626	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3783741	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.98[EUR][1000 genomes]
rs3783743	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs4391977	1.00[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4899113	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902226	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902227	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902229	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902232	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55859128	0.89[EUR][1000 genomes]
rs57760311	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60644154	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61627079	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573517	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs6573518	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6573519	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6573520	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573521	0.81[EUR][1000 genomes]
rs67442217	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140763	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143816	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7144120	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146069	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes]
rs7147222	0.99[EUR][1000 genomes]
rs7152839	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154559	0.98[EUR][1000 genomes]
rs7161634	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72714239	0.99[EUR][1000 genomes]
rs72714243	0.82[EUR][1000 genomes]
rs72714258	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714280	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72714283	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003115	0.99[EUR][1000 genomes]
rs8003144	0.99[EUR][1000 genomes]
rs8003246	1.00[EUR][1000 genomes]
rs8003647	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs8003956	0.99[EUR][1000 genomes]
rs8004170	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8006981	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007996	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014486	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8016306	0.81[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017184	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018128	0.97[EUR][1000 genomes]
rs8018307	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs8018721	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:91 , 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	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
7	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:63937600-63942400	Enhancers	K562	blood
9	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
10	chr14:63938000-63943200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:63938200-63942200	Enhancers	Right Ventricle	heart
12	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:63938600-63942600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:63938600-63942800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:63938600-63943000	Enhancers	HepG2	liver
16	chr14:63938600-63944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:63938600-63944600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:63938600-63945200	Weak transcription	NHDF-Ad	bronchial
19	chr14:63938600-63948800	Weak transcription	HSMM	muscle
20	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
21	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:63938800-63944000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:63938800-63958800	Weak transcription	Osteobl	bone
25	chr14:63939000-63942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:63939000-63944800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:63939200-63942200	Enhancers	Thymus	Thymus
29	chr14:63939200-63943000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:63939400-63942800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:63939400-63944800	Weak transcription	NHLF	lung
32	chr14:63939600-63942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:63939600-63945600	Weak transcription	Lung	lung
34	chr14:63939600-63949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:63939600-63950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:63939800-63942400	Weak transcription	Brain Anterior Caudate	brain
39	chr14:63939800-63944600	Weak transcription	Adipose Nuclei	Adipose
40	chr14:63939800-63950200	Weak transcription	Gastric	stomach
41	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
42	chr14:63940000-63943600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:63940200-63942400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:63940400-63943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:63940400-63947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:63940600-63942200	Enhancers	Fetal Thymus	thymus
47	chr14:63940600-63942800	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:63940600-63942800	Weak transcription	Fetal Heart	heart
49	chr14:63940600-63944000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:63940600-63948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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