Variant report

Variant	rs575467818
Chromosome Location	chr14:64971224-64971225
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	CEBPB	chr14:64971105-64971861	K562	blood:	n/a	n/a
2	MTA3	chr14:64971201-64971715	GM12878	blood:	n/a	n/a
3	CTCF	chr14:64971180-64971330	GM12872	blood:	n/a	n/a
4	RUNX3	chr14:64970092-64972417	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:64969879-64972187	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr14:64969976-64971919	A549	lung:	n/a	n/a
7	POLR2A	chr14:64969503-64972569	K562	blood:	n/a	n/a
8	POLR2A	chr14:64968377-64972910	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:64969316-64972674	GM19099	blood:	n/a	n/a
10	HEY1	chr14:64970201-64971921	K562	blood:	n/a	chr14:64971747-64971762 chr14:64971550-64971565 chr14:64971541-64971556 chr14:64970386-64970401 chr14:64971775-64971790
11	TAF1	chr14:64969837-64972292	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr14:64969997-64972209	HepG2	liver:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531 chr14:64971960-64971970
13	TAF7	chr14:64970025-64972364	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr14:64970069-64972297	HepG2	liver:	n/a	chr14:64971747-64971762 chr14:64971550-64971565 chr14:64971541-64971556 chr14:64970386-64970401 chr14:64971775-64971790
15	TCF12	chr14:64969694-64972843	A549	lung:	n/a	chr14:64971169-64971178
16	TAF1	chr14:64970045-64971877	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:64969977-64972610	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:64970058-64972742	K562	blood:	n/a	n/a
19	ELF1	chr14:64969596-64972421	MCF-7	breast:	n/a	chr14:64971558-64971570 chr14:64970689-64970702 chr14:64971556-64971565
20	EP300	chr14:64971213-64972230	GM12878	blood:	n/a	chr14:64972052-64972068 chr14:64972041-64972057
21	POLR2A	chr14:64969881-64972349	Hela-S3	cervix:	n/a	n/a
22	POU2F2	chr14:64970123-64971772	GM12891	blood:	n/a	chr14:64970971-64970983 chr14:64970415-64970427 chr14:64970255-64970267 chr14:64970895-64970907 chr14:64971561-64971573 chr14:64970135-64970147
23	EGR1	chr14:64971088-64971640	ECC-1	luminal epithelium:	n/a	chr14:64971347-64971361 chr14:64971350-64971363 chr14:64971350-64971364 chr14:64971363-64971377 chr14:64971349-64971364 chr14:64971350-64971363 chr14:64971354-64971364
24	POLR2A	chr14:64969736-64972686	K562	blood:	n/a	n/a
25	ELK1	chr14:64970298-64971489	Hela-S3	cervix:	n/a	n/a
26	CTBP2	chr14:64970014-64971617	H1-hESC	embryonic stem cell:	n/a	n/a
27	GTF2F1	chr14:64969666-64972611	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:64969348-64972728	GM12892	blood:	n/a	n/a
29	CEBPB	chr14:64970364-64972182	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr14:64971200-64971350	HCPEpiC	choroid plexus:	n/a	n/a
31	ELF1	chr14:64970574-64971588	A549	lung:	n/a	chr14:64971558-64971570 chr14:64970689-64970702 chr14:64971556-64971565
32	EGR1	chr14:64971102-64971571	GM12878	blood:	n/a	chr14:64971347-64971361 chr14:64971350-64971363 chr14:64971350-64971364 chr14:64971363-64971377 chr14:64971349-64971364 chr14:64971350-64971363 chr14:64971354-64971364
33	ETS1	chr14:64971177-64971833	GM12878	blood:	n/a	chr14:64971556-64971567 chr14:64971774-64971787 chr14:64971474-64971483
34	POLR2A	chr14:64971089-64972035	K562	blood:	n/a	n/a
35	ZNF143	chr14:64971109-64971563	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr14:64971071-64971819	SK-N-SH_RA	brain:	n/a	chr14:64971548-64971562 chr14:64971452-64971463 chr14:64971738-64971752 chr14:64971556-64971565
37	POLR2A	chr14:64968214-64972761	Hela-S3	cervix:	n/a	n/a
38	FOXA2	chr14:64970148-64971593	A549	lung:	n/a	n/a
39	POLR2A	chr14:64969901-64972295	K562	blood:	n/a	n/a
40	TCF12	chr14:64969884-64972583	MCF-7	breast:	n/a	chr14:64971169-64971178
41	PBX3	chr14:64970014-64972553	SK-N-SH	brain:	n/a	n/a
42	TEAD4	chr14:64970122-64971253	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr14:64970030-64971727	MCF-7	breast:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531
44	MYC	chr14:64971188-64971533	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr14:64970227-64972036	HepG2	liver:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531 chr14:64971960-64971970
46	FOXA1	chr14:64971040-64971250	ECC-1	luminal epithelium:	n/a	n/a
47	REST	chr14:64971023-64971856	HepG2	liver:	n/a	chr14:64971518-64971531
48	POLR2A	chr14:64969803-64972551	U87	brain:	n/a	n/a
49	POLR2A	chr14:64969916-64972553	GM12891	blood:	n/a	n/a
50	MXI1	chr14:64970176-64972170	HepG2	liver:	n/a	chr14:64970522-64970531

No.	Distal block	Cell Line	Cell type
1	chr14:64970708..64971228-chr17:41465181..41465706,2	NB4	blood:
2	chr14:64969427..64972228-chr3:73158451..73161611,4	MCF-7	breast:
3	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
4	chr11:62608639..62609223-chr14:64970728..64971228,4	Hela-S3	cervix:
5	chr14:64970239..64971228-chr17:41465633..41466586,2	Hela-S3	cervix:
6	chr14:64970708..64972228-chr17:41464182..41466216,3	K562	blood:
7	chr11:62607696..62610617-chr14:64970708..64972228,2	K562	blood:
8	chr11:62608620..62609197-chr14:64970708..64971228,3	NB4	blood:
9	chr14:64970440..64971228-chr16:2517861..2518844,2	Hela-S3	cervix:
10	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
11	chr14:64969193..64971407-chr14:65001217..65003397,2	K562	blood:
12	chr14:64907421..64910240-chr14:64969717..64972065,2	MCF-7	breast:
13	chr11:62608627..62609217-chr14:64970708..64971228,5	MCF-7	breast:
14	chr14:64906156..64910833-chr14:64968657..64972449,4	MCF-7	breast:
15	chr11:62608627..62609153-chr14:64970708..64971228,5	HCT-116	colon:
16	chr14:64970728..64971431-chr8:120867862..120868689,2	HCT-116	colon:
17	chr14:64927965..64930102-chr14:64970842..64972801,2	K562	blood:
18	chr14:64970303..64972355-chr14:65568366..65570387,2	K562	blood:
19	chr14:24701214..24702005-chr14:64970681..64971370,2	Hela-S3	cervix:
20	chr14:64970502..64971228-chr16:57836072..57836901,2	NB4	blood:
21	chr14:64969164..64972149-chr14:65189834..65193113,3	MCF-7	breast:
22	chr11:62608620..62609217-chr14:64970708..64971228,2	MCF-7	breast:
23	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
24	chr14:64970276..64971264-chr17:73150276..73150857,2	HCT-116	colon:
25	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
26	chr14:61788720..61790610-chr14:64970781..64973173,2	MCF-7	breast:
27	chr14:64969344..64972127-chr20:45983965..45986034,2	MCF-7	breast:
28	chr14:64682929..64685902-chr14:64969733..64972022,2	MCF-7	breast:
29	chr14:64970728..64971278-chr6:35887063..35888020,2	Hela-S3	cervix:
30	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
31	chr14:64970728..64971228-chr17:41465211..41466167,2	HCT-116	colon:
32	chr14:64853142..64856847-chr14:64968558..64973163,8	K562	blood:
33	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
34	chr14:64969626..64971943-chr14:103799593..103802271,2	MCF-7	breast:
35	chr14:64970339..64971228-chr15:72523918..72524433,2	Hela-S3	cervix:
36	chr14:64955531..64957276-chr14:64970390..64972716,2	K562	blood:
37	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
38	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
39	chr14:64759697..64762213-chr14:64970276..64972019,2	MCF-7	breast:
40	chr14:64970883..64971882-chr4:17616141..17616657,2	Hela-S3	cervix:
41	chr10:103124106..103124632-chr14:64970708..64971228,2	HCT-116	colon:
42	chr14:64970690..64971415-chr6:26056192..26057172,2	Hela-S3	cervix:
43	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
44	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
45	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
46	chr14:64853000..64857077-chr14:64970157..64972159,5	MCF-7	breast:
47	chr11:832073..835054-chr14:64970216..64972170,2	MCF-7	breast:
48	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
49	chr14:64930987..64933079-chr14:64967526..64973126,5	K562	blood:
50	chr10:105156018..105156791-chr14:64970909..64971688,2	NB4	blood:

Variant related genes	Relation type
ZBTB25	TF binding region
ZBTB1	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000027075	Chromatin interaction
ENSG00000136982	Chromatin interaction
ENSG00000272909	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000259895	Chromatin interaction
ENSG00000259160	Chromatin interaction
ENSG00000173915	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000140859	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000249502	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000247287	Chromatin interaction
ENSG00000271511	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000148843	Chromatin interaction
ENSG00000125952	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000272828	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000177697	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000118579	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000255108	Chromatin interaction
ENSG00000196374	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	esv3387679	chr14:64970224-64973172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv3391197	chr14:64971114-64971358	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64967800-64974200	Active TSS	GM12878-XiMat	blood
2	chr14:64968000-64973400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr14:64968800-64974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:64969000-64972600	Active TSS	Esophagus	oesophagus
5	chr14:64969000-64973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:64969200-64973600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:64969200-64973800	Active TSS	Aorta	Aorta
8	chr14:64969200-64974000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:64969400-64972600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:64969400-64972600	Active TSS	Brain Angular Gyrus	brain
11	chr14:64969400-64972600	Active TSS	A549	lung
12	chr14:64969400-64972800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:64969400-64972800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:64969400-64972800	Active TSS	Lung	lung
15	chr14:64969400-64973200	Active TSS	Thymus	Thymus
16	chr14:64969400-64973400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:64969400-64973400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:64969400-64973400	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:64969400-64973600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:64969600-64972200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:64969600-64972200	Active TSS	Brain Hippocampus Middle	brain
22	chr14:64969600-64972200	Active TSS	Fetal Thymus	thymus
23	chr14:64969600-64972400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64969600-64972400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr14:64969600-64972400	Active TSS	Liver	Liver
26	chr14:64969600-64972400	Active TSS	Brain Anterior Caudate	brain
27	chr14:64969600-64972400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:64969600-64972400	Active TSS	Hela-S3	cervix
29	chr14:64969600-64972600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64969600-64972600	Active TSS	Fetal Intestine Large	intestine
31	chr14:64969600-64972600	Active TSS	Fetal Intestine Small	intestine
32	chr14:64969600-64972600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr14:64969600-64972600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr14:64969600-64972600	Active TSS	Small Intestine	intestine
35	chr14:64969600-64972600	Active TSS	NHEK	skin
36	chr14:64969600-64972800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr14:64969600-64972800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:64969600-64972800	Active TSS	Fetal Muscle Trunk	muscle
39	chr14:64969600-64972800	Active TSS	Fetal Stomach	stomach
40	chr14:64969600-64972800	Active TSS	Gastric	stomach
41	chr14:64969600-64972800	Active TSS	Left Ventricle	heart
42	chr14:64969600-64972800	Active TSS	Ovary	ovary
43	chr14:64969600-64972800	Active TSS	Pancreas	Pancrea
44	chr14:64969600-64973000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:64969600-64973000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:64969600-64973000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:64969600-64973000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:64969600-64973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:64969600-64973200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:64969600-64973200	Active TSS	Primary T helper cells PMA-I stimulated	--

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