Variant report

Variant	rs186935013
Chromosome Location	chr14:69444223-69444224
allele	A/C/T
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	RAD21	chr14:69444142-69445598	SK-N-SH_RA	brain:	n/a	chr14:69444648-69444658
2	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:69444036-69444342	K562	blood:	n/a	n/a
4	FOS	chr14:69444217-69444362	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:69443926-69446789	ProgFib	skin:	n/a	n/a
6	ESR1	chr14:69444109-69444377	ECC-1	luminal epithelium:	n/a	chr14:69444244-69444259
7	POLR2A	chr14:69444061-69446941	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:69443144-69445570	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
10	EP300	chr14:69444217-69444801	SK-N-SH_RA	brain:	n/a	n/a
11	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
12	MAX	chr14:69443875-69446589	MCF-7	breast:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
13	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
14	POLR2A	chr14:69444071-69444296	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr14:69444213-69446438	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:69444127-69444448	U87	brain:	n/a	n/a
17	MYC	chr14:69444046-69446434	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
18	SRF	chr14:69444133-69444794	ECC-1	luminal epithelium:	n/a	chr14:69444444-69444458 chr14:69444443-69444456 chr14:69444441-69444458 chr14:69444440-69444458
19	MAX	chr14:69443999-69446446	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
20	ZNF143	chr14:69444157-69444356	Hela-S3	cervix:	n/a	n/a
21	EP300	chr14:69444197-69447183	ECC-1	luminal epithelium:	n/a	chr14:69445444-69445460 chr14:69444809-69444825 chr14:69446463-69446477 chr14:69445133-69445142 chr14:69445465-69445481 chr14:69445645-69445661 chr14:69446770-69446786
22	POLR2A	chr14:69443295-69445595	U87	brain:	n/a	n/a
23	POLR2A	chr14:69444097-69447251	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr14:69444091-69446477	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:69444021-69444325	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr14:69443979-69445111	SK-N-SH	brain:	n/a	chr14:69444809-69444825
27	POLR2A	chr14:69443765-69446483	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:69443683-69446499	HepG2	liver:	n/a	n/a
29	MAZ	chr14:69442284-69447004	IMR90	lung:	n/a	chr14:69442450-69442457 chr14:69442448-69442459 chr14:69446258-69446267 chr14:69446222-69446232 chr14:69442447-69442460 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69442449-69442459 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430 chr14:69442449-69442458
30	POLR2A	chr14:69444066-69444401	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:69444081-69444254	HepG2	liver:	n/a	n/a
32	RXRA	chr14:69444042-69445034	SK-N-SH	brain:	n/a	chr14:69444642-69444662
33	CHD1	chr14:69444077-69444440	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr14:69444105-69444399	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr14:69444155-69446808	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:69444017-69444361	HUVEC	blood vessel:	n/a	n/a
37	STAT3	chr14:69444199-69444584	MCF10A-Er-Src	breast:	n/a	chr14:69444518-69444530
38	POLR2A	chr14:69443792-69444448	U87	brain:	n/a	n/a
39	TCF12	chr14:69443978-69445630	A549	lung:	n/a	chr14:69445102-69445112 chr14:69445172-69445182
40	TCF7L2	chr14:69444121-69444412	PANC-1	pancreas:	n/a	n/a
41	SIN3A	chr14:69444076-69444251	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:69441592-69445621	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr14:69444141-69445214	SK-N-SH	brain:	n/a	chr14:69444518-69444528 chr14:69445035-69445045
44	RAD21	chr14:69444219-69444834	SK-N-SH_RA	brain:	n/a	chr14:69444648-69444658
45	SRF	chr14:69444182-69444617	H1-hESC	embryonic stem cell:	n/a	chr14:69444444-69444458 chr14:69444443-69444456 chr14:69444441-69444458 chr14:69444440-69444458
46	POLR2A	chr14:69443929-69446974	Hela-S3	cervix:	n/a	n/a
47	TBP	chr14:69444213-69444806	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:69444152-69444335	K562	blood:	n/a	n/a
49	MYC	chr14:69444200-69444727	MCF10A-Er-Src	breast:	n/a	chr14:69444518-69444528
50	POLR2A	chr14:69443989-69444327	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr11:95523122..95523849-chr14:69444207..69445109,2	Hela-S3	cervix:
3	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
4	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
5	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
6	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:
7	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:
8	chr14:69442124..69444502-chr20:46130530..46133122,2	MCF-7	breast:

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ENSG00000139990	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000166037	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000077458	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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3449858	chr14:69443549-69447697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3409047	chr14:69444224-69447072	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
3	chr14:69440600-69444400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:69441200-69445200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:69441400-69444400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:69441600-69444400	Transcr. at gene 5' and 3'	HMEC	breast
7	chr14:69441800-69444400	Transcr. at gene 5' and 3'	Osteobl	bone
8	chr14:69441800-69444600	Enhancers	Spleen	Spleen
9	chr14:69441800-69445200	Transcr. at gene 5' and 3'	A549	lung
10	chr14:69442000-69444400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr14:69442200-69445200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:69442400-69444400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr14:69442400-69444400	Flanking Active TSS	HepG2	liver
14	chr14:69442400-69444600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:69442600-69444400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr14:69442600-69444400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:69442800-69444400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr14:69443000-69444400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr14:69443000-69444800	Enhancers	Fetal Brain Male	brain
20	chr14:69443200-69444400	Flanking Active TSS	HUVEC	blood vessel
21	chr14:69443200-69444400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:69443200-69445200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:69443200-69447000	Active TSS	Aorta	Aorta
24	chr14:69443400-69444400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr14:69443400-69444400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:69443400-69444400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr14:69443400-69444400	Flanking Active TSS	Fetal Heart	heart
28	chr14:69443400-69444400	Flanking Active TSS	K562	blood
29	chr14:69443400-69445000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr14:69443600-69444400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:69443600-69444400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr14:69443600-69444400	Transcr. at gene 5' and 3'	NH-A	brain
33	chr14:69443600-69444600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:69443600-69444600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr14:69443600-69444600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:69443600-69444600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr14:69443600-69444600	Enhancers	Small Intestine	intestine
38	chr14:69443600-69445000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69443600-69445400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr14:69443600-69446800	Active TSS	Esophagus	oesophagus
41	chr14:69443600-69447200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:69443800-69444400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:69443800-69444400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr14:69443800-69444400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:69443800-69444400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:69443800-69444400	Flanking Active TSS	Hela-S3	cervix
47	chr14:69443800-69444600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:69443800-69445000	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:69443800-69445600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr14:69443800-69446800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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