Variant report

Variant	rs1951213
Chromosome Location	chr14:63945298-63945299
allele	C/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	RUNX3	chr14:63944601-63945640	GM12878	blood:	n/a	n/a
2	SMC3	chr14:63944711-63945515	GM12878	blood:	n/a	n/a
3	EBF1	chr14:63944613-63945678	GM12878	blood:	n/a	n/a
4	CUX1	chr14:63944666-63945568	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr14:63944740-63945482	GM12878	blood:	n/a	n/a
6	MXI1	chr14:63944613-63945479	GM12878	blood:	n/a	n/a
7	BATF	chr14:63945097-63945585	GM12878	blood:	n/a	n/a
8	CHD1	chr14:63944434-63945304	GM12878	blood:	n/a	n/a
9	FOXM1	chr14:63944676-63945627	GM12878	blood:	n/a	n/a
10	BHLHE40	chr14:63944700-63945510	GM12878	blood:	n/a	n/a
11	NFIC	chr14:63944609-63945584	GM12878	blood:	n/a	n/a
12	NFIC	chr14:63944567-63945705	GM12878	blood:	n/a	n/a
13	TBP	chr14:63944672-63945485	GM12878	blood:	n/a	n/a
14	CEBPB	chr14:63944606-63945626	GM12878	blood:	n/a	n/a
15	MTA3	chr14:63944574-63945619	GM12878	blood:	n/a	n/a
16	RCOR1	chr14:63944694-63945445	GM12878	blood:	n/a	n/a
17	IKZF1	chr14:63944688-63945545	GM12878	blood:	n/a	n/a
18	ATF2	chr14:63944593-63945608	GM12878	blood:	n/a	n/a
19	MAZ	chr14:63944658-63945378	GM12878	blood:	n/a	n/a
20	RELA	chr14:63944730-63945611	GM19099	blood:	n/a	n/a
21	IRF1	chr14:63944716-63945383	K562	blood:	n/a	chr14:63944958-63944971 chr14:63944958-63944971 chr14:63944984-63944991 chr14:63944988-63945001 chr14:63944960-63944970 chr14:63944960-63944974 chr14:63944988-63945001 chr14:63944988-63945001 chr14:63944958-63944972 chr14:63944956-63944970 chr14:63944957-63944971 chr14:63944960-63944971 chr14:63944958-63944971
22	JUND	chr14:63944723-63945536	GM12878	blood:	n/a	n/a
23	RUNX3	chr14:63945139-63945569	GM12878	blood:	n/a	n/a
24	EP300	chr14:63944699-63945545	GM12878	blood:	n/a	chr14:63944741-63944755
25	EP300	chr14:63944696-63945556	GM12878	blood:	n/a	chr14:63944741-63944755
26	JUND	chr14:63944756-63945609	GM12878	blood:	n/a	n/a
27	BCL3	chr14:63945156-63945553	GM12878	blood:	n/a	n/a
28	ATF2	chr14:63944713-63945607	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10129170	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10130074	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10132996	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10133014	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10137243	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10137259	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10137279	1.00[EUR][1000 genomes]
rs10138187	0.99[EUR][1000 genomes]
rs10138274	0.99[EUR][1000 genomes]
rs10138372	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10138832	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10139028	0.98[EUR][1000 genomes]
rs10139725	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs10140679	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10140710	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10140718	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10141179	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10144700	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10145422	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10146848	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10148185	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10149549	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10152067	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1033742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1033744	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1033745	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs1033747	0.93[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10483773	1.00[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158492	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11158493	0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11850626	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12323479	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs12433708	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs12434321	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1475040	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17093492	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17101205	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17101207	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17101238	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17101239	0.83[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17101242	0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17225252	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17225266	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17825105	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1951212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957045	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	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2064953	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2064954	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2180876	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28372244	0.98[EUR][1000 genomes]
rs28394515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28496722	0.97[EUR][1000 genomes]
rs28522688	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28560307	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28579385	0.98[EUR][1000 genomes]
rs28592209	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28620591	0.99[EUR][1000 genomes]
rs28683743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696283	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28711489	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28758626	0.98[EUR][1000 genomes]
rs3783741	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3783743	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs4391977	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899113	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs4902226	0.85[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes]
rs4902227	0.99[EUR][1000 genomes]
rs4902229	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902232	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55859128	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57760311	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60644154	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61627079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573517	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6573518	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6573519	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573520	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67442217	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140763	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7143816	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7144120	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7146069	0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147222	0.98[EUR][1000 genomes]
rs7152839	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs7153764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154559	0.97[EUR][1000 genomes]
rs7161634	0.99[EUR][1000 genomes]
rs72714239	0.98[EUR][1000 genomes]
rs72714243	0.81[EUR][1000 genomes]
rs72714258	0.96[EUR][1000 genomes]
rs72714280	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714283	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8003115	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8003144	0.98[EUR][1000 genomes]
rs8003246	0.99[EUR][1000 genomes]
rs8003647	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8003956	0.98[EUR][1000 genomes]
rs8004170	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8006981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007996	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014486	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8016306	0.83[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8017184	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018128	0.96[EUR][1000 genomes]
rs8018307	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8018721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
6	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:63938600-63948800	Weak transcription	HSMM	muscle
8	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
9	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:63938800-63958800	Weak transcription	Osteobl	bone
12	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:63939600-63945600	Weak transcription	Lung	lung
14	chr14:63939600-63949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:63939600-63950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:63939800-63950200	Weak transcription	Gastric	stomach
19	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:63940400-63947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:63940600-63948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:63940800-63950800	Weak transcription	NHEK	skin
23	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:63941000-63946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:63941000-63953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:63941000-63953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:63941200-63945600	Weak transcription	Stomach Mucosa	stomach
28	chr14:63941200-63946000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:63941200-63947400	Weak transcription	Hela-S3	cervix
30	chr14:63941200-63950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:63941400-63948800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:63941800-63945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
36	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
37	chr14:63942000-63949400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:63942000-63950200	Weak transcription	Aorta	Aorta
39	chr14:63942000-63950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:63942200-63945400	Weak transcription	Psoas Muscle	Psoas
41	chr14:63942200-63950000	Weak transcription	Left Ventricle	heart
42	chr14:63942200-63950000	Weak transcription	Right Ventricle	heart
43	chr14:63942600-63945600	Enhancers	Primary T cells from cord blood	blood
44	chr14:63942600-63946600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:63942800-63945600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:63943000-63946200	Weak transcription	HepG2	liver
47	chr14:63943000-63946600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:63943000-63950000	Weak transcription	Fetal Heart	heart
49	chr14:63943400-63946600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:63943400-63946600	Enhancers	Liver	Liver

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