Variant report

Variant	rs72711565
Chromosome Location	chr14:105766324-105766325
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	HCFC1	chr14:105765946-105768196	Hela-S3	cervix:	n/a	n/a
2	TRIM28	chr14:105765874-105766344	K562	blood:	n/a	n/a
3	MTA3	chr14:105765789-105767734	GM12878	blood:	n/a	n/a
4	MXI1	chr14:105766108-105768085	GM12878	blood:	n/a	n/a
5	RFX5	chr14:105766044-105766573	Hela-S3	cervix:	n/a	n/a
6	EBF1	chr14:105765929-105766487	GM12878	blood:	n/a	chr14:105766192-105766203
7	RUNX3	chr14:105765930-105768251	GM12878	blood:	n/a	chr14:105766729-105766746
8	MAX	chr14:105766228-105768274	A549	lung:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
9	MAX	chr14:105766191-105768391	A549	lung:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
10	SMARCB1	chr14:105766236-105768140	Hela-S3	cervix:	n/a	chr14:105768058-105768067
11	ELF1	chr14:105766198-105768338	GM12878	blood:	n/a	chr14:105767705-105767717 chr14:105767826-105767838 chr14:105766983-105766995 chr14:105767917-105767929
12	CTCF	chr14:105766240-105766390	GM12873	blood:	n/a	n/a
13	RUNX3	chr14:105765971-105766525	GM12878	blood:	n/a	n/a
14	MAX	chr14:105765877-105768272	MCF-7	breast:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
15	PML	chr14:105766312-105767837	GM12878	blood:	n/a	n/a
16	KAP1	chr14:105765873-105767650	HEK293	kidney:	n/a	n/a
17	MAZ	chr14:105766139-105768291	IMR90	lung:	n/a	chr14:105767652-105767662 chr14:105767916-105767926 chr14:105767844-105767854 chr14:105767708-105767718 chr14:105766553-105766562 chr14:105767751-105767761 chr14:105767785-105767795
18	TCF12	chr14:105766007-105766361	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:105766268-105766450	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:105766274-105767986	Hela-S3	cervix:	n/a	n/a
21	HDAC2	chr14:105765834-105768245	MCF-7	breast:	n/a	n/a
22	REST	chr14:105766074-105768203	H1-neurons	neurons:	n/a	chr14:105767705-105767718 chr14:105766536-105766549 chr14:105767649-105767662 chr14:105767775-105767788 chr14:105768070-105768083 chr14:105767916-105767929
23	EBF1	chr14:105765978-105766434	GM12878	blood:	n/a	chr14:105766192-105766203
24	POLR2A	chr14:105766252-105767847	H1-neurons	neurons:	n/a	n/a
25	TAF1	chr14:105766209-105766864	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr14:105766321-105766562	GM12878	blood:	n/a	n/a
27	WRNIP1	chr14:105765976-105766462	GM12878	blood:	n/a	n/a
28	CTCF	chr14:105766200-105766350	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
2	chr14:105766164..105768024-chr14:105938486..105941026,2	MCF-7	breast:
3	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
4	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
5	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
6	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
7	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000179364	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000185347	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1008629	0.95[EUR][1000 genomes]
rs4270098	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs45527637	0.95[EUR][1000 genomes]
rs4572314	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56776600	0.95[EUR][1000 genomes]
rs58705971	0.95[EUR][1000 genomes]
rs67308076	0.95[EUR][1000 genomes]
rs67426629	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs67502922	0.95[EUR][1000 genomes]
rs67579680	0.95[EUR][1000 genomes]
rs67936859	0.95[EUR][1000 genomes]
rs7149185	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72709737	0.95[EUR][1000 genomes]
rs72711555	0.95[EUR][1000 genomes]
rs72711562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73353763	0.95[EUR][1000 genomes]
rs8015997	0.95[EUR][1000 genomes]
rs8016364	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
20	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	nsv566187	chr14:105756485-105780704	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
22	esv3420807	chr14:105764707-105769605	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105765600-105766400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:105765600-105766400	Flanking Active TSS	Hela-S3	cervix
3	chr14:105765600-105766600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:105765600-105766600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:105765600-105766600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:105765600-105766600	Flanking Active TSS	Fetal Brain Female	brain
7	chr14:105765600-105766600	Flanking Active TSS	Dnd41	blood
8	chr14:105765600-105766600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105765600-105767000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:105765600-105768400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:105765800-105766400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:105765800-105766400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:105765800-105766400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105765800-105766400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr14:105765800-105766400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr14:105765800-105766400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:105765800-105766400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr14:105765800-105766400	Flanking Active TSS	Fetal Lung	lung
21	chr14:105765800-105766400	Flanking Active TSS	K562	blood
22	chr14:105765800-105766400	Flanking Active TSS	NHEK	skin
23	chr14:105765800-105766600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:105765800-105766600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr14:105765800-105766600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr14:105765800-105766600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:105765800-105766600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr14:105765800-105766600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr14:105765800-105766600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:105765800-105766600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:105765800-105766600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr14:105765800-105766600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:105765800-105766600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr14:105765800-105766600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr14:105765800-105766600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:105765800-105766600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr14:105765800-105766600	Flanking Active TSS	HMEC	breast
38	chr14:105765800-105766600	Flanking Active TSS	HUVEC	blood vessel
39	chr14:105765800-105766600	Flanking Active TSS	Osteobl	bone
40	chr14:105765800-105766800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:105765800-105766800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:105765800-105766800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:105765800-105766800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr14:105765800-105766800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:105765800-105766800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:105765800-105766800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:105765800-105766800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:105765800-105768400	Active TSS	A549	lung
49	chr14:105766000-105766400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr14:105766000-105766400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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