Variant report

Variant	rs572960421
Chromosome Location	chr14:64319391-64319392
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	CTCF	chr14:64319340-64319490	GM12873	blood:	n/a	n/a
2	POLR2A	chr14:64319381-64320478	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:64319390-64320239	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:64319380-64320412	GM19193	blood:	n/a	n/a
5	RAD21	chr14:64319385-64319858	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr14:64319339-64320052	ECC-1	luminal epithelium:	n/a	n/a
7	TFAP2A	chr14:64319340-64321304	Hela-S3	cervix:	n/a	chr14:64320796-64320806 chr14:64319654-64319669 chr14:64320112-64320123 chr14:64321241-64321255 chr14:64320384-64320392 chr14:64320160-64320175 chr14:64320384-64320392 chr14:64320384-64320392 chr14:64320796-64320806 chr14:64320468-64320479 chr14:64320796-64320806
8	ELF1	chr14:64319358-64320444	GM12878	blood:	n/a	chr14:64319655-64319667 chr14:64320057-64320069 chr14:64319645-64319657 chr14:64320177-64320189 chr14:64319644-64319653
9	MXI1	chr14:64319006-64320504	IMR90	lung:	n/a	n/a
10	TAF1	chr14:64319351-64320042	ECC-1	luminal epithelium:	n/a	n/a
11	KAP1	chr14:64319323-64319635	HEK293	kidney:	n/a	n/a
12	CTCF	chr14:64319262-64319818	IMR90	lung:	n/a	n/a
13	HA-E2F1	chr14:64318993-64320964	MCF-7	breast:	n/a	chr14:64320675-64320692 chr14:64320299-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319695-64319706 chr14:64319658-64319667 chr14:64319683-64319694 chr14:64319776-64319783 chr14:64320500-64320509
14	POLR2A	chr14:64319363-64320828	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr14:64319186-64319713	A549	lung:	n/a	n/a
16	POLR2A	chr14:64319293-64319937	HEK293	kidney:	n/a	n/a
17	TAF1	chr14:64319374-64320311	MCF-7	breast:	n/a	n/a
18	TBP	chr14:64319141-64319912	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr14:64319129-64321148	H1-hESC	embryonic stem cell:	n/a	chr14:64320377-64320390 chr14:64319716-64319727 chr14:64320334-64320345 chr14:64320189-64320198
20	TAF1	chr14:64319077-64319935	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr14:64319119-64319461	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:64318943-64320899	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr14:64318989-64319531	H1-hESC	embryonic stem cell:	n/a	chr14:64319460-64319469
24	POLR2A	chr14:64319348-64320834	GM18951	blood:	n/a	n/a
25	E2F4	chr14:64319250-64319864	MCF10A-Er-Src	breast:	n/a	chr14:64319654-64319663 chr14:64319658-64319670 chr14:64319658-64319667 chr14:64319776-64319783
26	MAX	chr14:64319380-64319899	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr14:64319144-64320055	SK-N-MC	brain:	n/a	n/a
28	GTF2F1	chr14:64319061-64319530	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr14:64319201-64319821	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr14:64319388-64320349	GM18505	blood:	n/a	n/a
31	RCOR1	chr14:64319266-64319601	HepG2	liver:	n/a	n/a
32	MXI1	chr14:64319212-64319869	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:64319379-64320465	GM12878	blood:	n/a	n/a
34	E2F4	chr14:64319388-64320488	Hela-S3	cervix:	n/a	chr14:64320299-64320306 chr14:64320298-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319658-64319667 chr14:64319776-64319783
35	POLR2A	chr14:64319356-64320471	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:64319365-64319925	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr14:64319116-64321344	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:64319189-64319928	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr14:64319197-64319522	H1-hESC	embryonic stem cell:	n/a	n/a
40	GTF2F1	chr14:64319387-64319705	H1-hESC	embryonic stem cell:	n/a	n/a
41	RUNX3	chr14:64319147-64319902	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:64319322-64321174	Raji	blood:	n/a	n/a
43	HA-E2F1	chr14:64319365-64320626	Hela-S3	cervix:	n/a	chr14:64320299-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319695-64319706 chr14:64319658-64319667 chr14:64319683-64319694 chr14:64319776-64319783 chr14:64320500-64320509
44	CTBP2	chr14:64319088-64319839	H1-hESC	embryonic stem cell:	n/a	n/a
45	GATA2	chr14:64319139-64319597	SH-SY5Y	brain:	n/a	n/a
46	CTCF	chr14:64319260-64319410	HUVEC	blood vessel:	n/a	n/a
47	MAX	chr14:64319241-64321006	A549	lung:	n/a	chr14:64320760-64320770 chr14:64320431-64320441
48	MAX	chr14:64319353-64320580	HepG2	liver:	n/a	chr14:64320431-64320441
49	POLR2A	chr14:64319339-64320878	GM19099	blood:	n/a	n/a
50	ZBTB7A	chr14:64319265-64319873	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64319297..64320096-chr2:74425675..74426285,2	Hela-S3	cervix:
2	chr14:64318775..64319715-chr6:26156466..26157229,2	Hela-S3	cervix:
3	chr14:64319297..64319918-chr6:86352603..86353316,2	Hela-S3	cervix:
4	chr14:64319166..64320923-chr14:64328806..64331982,4	MCF-7	breast:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000202182	TF binding region
ENSG00000054654	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3416242	chr14:64263248-64321769	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3368767	chr14:64268248-64321769	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3355344	chr14:64268248-64323934	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3341450	chr14:64318649-64321797	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3439844	chr14:64318824-64321372	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3421724	chr14:64319224-64321772	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64318800-64319400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr14:64318800-64319600	Active TSS	Fetal Lung	lung
3	chr14:64318800-64321000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:64318800-64321200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:64318800-64321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:64318800-64321800	Active TSS	Fetal Kidney	kidney
7	chr14:64318800-64322600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:64319000-64319400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:64319000-64319400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:64319000-64319400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:64319000-64319400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:64319000-64319400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:64319000-64319400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr14:64319000-64319400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr14:64319000-64319400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:64319000-64319400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:64319000-64319400	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr14:64319000-64319400	Enhancers	Esophagus	oesophagus
19	chr14:64319000-64319400	Flanking Active TSS	Fetal Heart	heart
20	chr14:64319000-64319400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr14:64319000-64319400	Flanking Active TSS	Fetal Stomach	stomach
22	chr14:64319000-64319400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr14:64319000-64319400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:64319000-64319400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr14:64319000-64319400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr14:64319000-64319400	Flanking Active TSS	GM12878-XiMat	blood
27	chr14:64319000-64319400	Flanking Active TSS	Hela-S3	cervix
28	chr14:64319000-64319400	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr14:64319000-64319400	Flanking Bivalent TSS/Enh	Osteobl	bone
30	chr14:64319000-64319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:64319000-64319600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:64319000-64319600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:64319000-64319600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:64319000-64319600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:64319000-64319600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr14:64319000-64319600	Enhancers	Fetal Brain Male	brain
37	chr14:64319000-64319600	Flanking Active TSS	Dnd41	blood
38	chr14:64319000-64319600	Flanking Active TSS	NHEK	skin
39	chr14:64319000-64320800	Active TSS	Brain Hippocampus Middle	brain
40	chr14:64319000-64320800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:64319000-64320800	Active TSS	Colonic Mucosa	Colon
42	chr14:64319000-64321000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:64319000-64321000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:64319000-64321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:64319000-64321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:64319000-64321000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:64319000-64321000	Active TSS	Brain Anterior Caudate	brain
48	chr14:64319000-64321000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:64319000-64321000	Active TSS	Colon Smooth Muscle	Colon
50	chr14:64319000-64321000	Active TSS	Duodenum Mucosa	Duodenum

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