Variant report

Variant	rs543713909
Chromosome Location	chr14:35450385-35450386
allele	-/ACACAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35449987-35452510	HepG2	liver:	n/a	n/a
2	MAFF	chr14:35449897-35450833	HepG2	liver:	n/a	chr14:35450167-35450185
3	MAX	chr14:35450382-35452619	NB4	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
4	FOXA2	chr14:35450004-35450820	HepG2	liver:	n/a	chr14:35450466-35450478
5	EP300	chr14:35450030-35450808	K562	blood:	n/a	n/a
6	KAP1	chr14:35449869-35452510	HEK293	kidney:	n/a	n/a
7	TBL1XR1	chr14:35450228-35450471	K562	blood:	n/a	n/a
8	CEBPB	chr14:35450038-35450400	HepG2	liver:	n/a	n/a
9	MAX	chr14:35450160-35450836	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:35449933-35452777	HepG2	liver:	n/a	n/a
11	FOXA1	chr14:35450055-35450788	HepG2	liver:	n/a	chr14:35450466-35450478
12	MAX	chr14:35450156-35450767	K562	blood:	n/a	n/a
13	KAP1	chr14:35449989-35450704	U2OS	brain:	n/a	n/a
14	SIN3AK20	chr14:35450013-35450993	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:35450030-35452656	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr14:35450333-35452894	HepG2	liver:	n/a	n/a
17	MYC	chr14:35450311-35452803	NB4	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
18	REST	chr14:35449921-35451016	HepG2	liver:	n/a	n/a
19	YY1	chr14:35450031-35450516	HepG2	liver:	n/a	n/a
20	RXRA	chr14:35449949-35450828	HepG2	liver:	n/a	n/a
21	MAFK	chr14:35449893-35450948	HepG2	liver:	n/a	chr14:35450168-35450183
22	SMC3	chr14:35450090-35452393	Hela-S3	cervix:	n/a	n/a
23	GTF2F1	chr14:35450085-35451116	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr14:35449795-35452720	IMR90	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
25	SIN3AK20	chr14:35449975-35452799	MCF-7	breast:	n/a	n/a
26	HNF4A	chr14:35450246-35450951	HepG2	liver:	n/a	chr14:35450636-35450651
27	TCF12	chr14:35449937-35452667	A549	lung:	n/a	n/a
28	MAX	chr14:35449917-35452682	A549	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
29	MBD4	chr14:35449651-35453338	HepG2	liver:	n/a	n/a
30	MAX	chr14:35449789-35453237	HepG2	liver:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
31	POLR2A	chr14:35450368-35450394	MCF10A-Er-Src	breast:	n/a	n/a
32	TBP	chr14:35450295-35452517	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:35450058-35453345	HepG2	liver:	n/a	n/a
34	MYBL2	chr14:35449780-35453391	HepG2	liver:	n/a	n/a
35	CEBPB	chr14:35450083-35450803	HepG2	liver:	n/a	n/a
36	CEBPD	chr14:35449998-35450839	HepG2	liver:	n/a	n/a
37	MBD4	chr14:35449705-35452854	HepG2	liver:	n/a	n/a
38	TEAD4	chr14:35449669-35453202	HepG2	liver:	n/a	n/a
39	EP300	chr14:35449935-35452574	HepG2	liver:	n/a	n/a
40	ARID3A	chr14:35449799-35452898	HepG2	liver:	n/a	chr14:35452584-35452600
41	TCF7L2	chr14:35450134-35450818	Hela-S3	cervix:	n/a	n/a
42	MYC	chr14:35450223-35450813	K562	blood:	n/a	n/a
43	FOXA1	chr14:35449991-35450867	HepG2	liver:	n/a	chr14:35450466-35450478
44	NFIC	chr14:35449742-35452575	HepG2	liver:	n/a	n/a
45	HDAC2	chr14:35449893-35452822	HepG2	liver:	n/a	n/a
46	MXI1	chr14:35450055-35452668	Hela-S3	cervix:	n/a	n/a
47	ELF1	chr14:35450004-35450765	HepG2	liver:	n/a	n/a
48	RCOR1	chr14:35450094-35452480	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr14:35450018-35450826	HepG2	liver:	n/a	n/a
50	CEBPB	chr14:35450096-35450845	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
2	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
3	chr14:35023701..35025768-chr14:35449276..35451419,2	K562	blood:
4	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
5	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
6	chr14:35450376..35452323-chr14:35627573..35629639,2	K562	blood:
7	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
8	chr14:35450245..35452169-chr14:35590215..35593362,3	MCF-7	breast:
9	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
10	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
11	chr14:35450019..35452754-chr14:35591061..35594828,4	K562	blood:
12	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
13	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-1	chr14:35449441-35452103	NONHSAT036355

No data

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000258790	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000259090	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000100890	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	nsv84623	chr14:35450381-35450398	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
3	chr14:35425800-35450600	Weak transcription	Ovary	ovary
4	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:35426000-35450800	Weak transcription	Gastric	stomach
6	chr14:35449600-35450400	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:35449600-35450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:35449600-35450400	Enhancers	Fetal Heart	heart
9	chr14:35449600-35452800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:35449600-35453000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:35449800-35450400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:35449800-35450400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:35449800-35450400	Active TSS	Duodenum Mucosa	Duodenum
14	chr14:35449800-35450400	Enhancers	Fetal Brain Male	brain
15	chr14:35449800-35451000	Flanking Active TSS	Dnd41	blood
16	chr14:35449800-35452800	Active TSS	Hela-S3	cervix
17	chr14:35449800-35453000	Active TSS	NHEK	skin
18	chr14:35449800-35453000	Active TSS	Osteobl	bone
19	chr14:35449800-35453200	Active TSS	NHDF-Ad	bronchial
20	chr14:35449800-35453400	Active TSS	GM12878-XiMat	blood
21	chr14:35449800-35453600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35449800-35453600	Active TSS	NHLF	lung
23	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:35450000-35450400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:35450000-35450400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:35450000-35450400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:35450000-35450400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:35450000-35450400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr14:35450000-35450400	Enhancers	Primary B cells from cord blood	blood
30	chr14:35450000-35450400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:35450000-35450400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:35450000-35450400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:35450000-35450400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:35450000-35450400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:35450000-35450400	Enhancers	Adipose Nuclei	Adipose
36	chr14:35450000-35450400	Active TSS	Brain Anterior Caudate	brain
37	chr14:35450000-35450400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:35450000-35450400	Enhancers	Fetal Muscle Leg	muscle
39	chr14:35450000-35450400	Enhancers	Lung	lung
40	chr14:35450000-35450400	Flanking Active TSS	Pancreas	Pancrea
41	chr14:35450000-35450400	Enhancers	Spleen	Spleen
42	chr14:35450000-35450400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:35450000-35450600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:35450000-35450600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:35450000-35450600	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:35450000-35450600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:35450000-35450600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:35450000-35450600	Enhancers	Brain Substantia Nigra	brain
49	chr14:35450000-35450600	Enhancers	Left Ventricle	heart
50	chr14:35450000-35450600	Enhancers	Right Ventricle	heart

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