Variant report

Variant	rs143063585
Chromosome Location	chr14:65170838-65170839
allele	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	POLR2A	chr14:65170801-65171400	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:65170820-65171364	SK-N-MC	brain:	n/a	n/a
3	EGR1	chr14:65170778-65171315	ECC-1	luminal epithelium:	n/a	chr14:65171019-65171029
4	MAX	chr14:65170738-65171499	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
5	TCF12	chr14:65170555-65172728	A549	lung:	n/a	chr14:65172656-65172666 chr14:65171088-65171096
6	CHD1	chr14:65170208-65171187	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:65170828-65171255	A549	lung:	n/a	n/a
8	KAP1	chr14:65170738-65170999	U2OS	brain:	n/a	n/a
9	BHLHE40	chr14:65170725-65170999	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:65170775-65171573	Gliobla	brain:	n/a	n/a
11	ZBTB7A	chr14:65170572-65172154	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr14:65170674-65172313	IMR90	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
13	RCOR1	chr14:65170706-65171512	HepG2	liver:	n/a	n/a
14	MXI1	chr14:65170555-65171559	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:65170694-65172055	MCF-7	breast:	n/a	n/a
16	MXI1	chr14:65170716-65171254	HepG2	liver:	n/a	n/a
17	SRF	chr14:65170826-65171372	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr14:65170629-65172582	HepG2	liver:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
19	HA-E2F1	chr14:65169675-65172166	MCF-7	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109 chr14:65169782-65169791
20	MYC	chr14:65170813-65170911	MCF-7	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
21	SIN3AK20	chr14:65169607-65171579	HCT-116	colon:	n/a	n/a
22	POLR2A	chr14:65170633-65171741	SK-N-MC	brain:	n/a	n/a
23	E2F6	chr14:65170716-65172196	A549	lung:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109
24	USF1	chr14:65170758-65171046	A549	lung:	n/a	n/a
25	ZBTB7A	chr14:65170663-65172156	ECC-1	luminal epithelium:	n/a	n/a
26	FOXM1	chr14:65169581-65171381	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr14:65170699-65171498	A549	lung:	n/a	n/a
28	MYC	chr14:65170719-65170961	HepG2	liver:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
29	MAX	chr14:65170677-65171377	SK-N-SH	brain:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
30	ESR1	chr14:65170828-65171208	ECC-1	luminal epithelium:	n/a	n/a
31	NR2F2	chr14:65170570-65171844	MCF-7	breast:	n/a	n/a
32	MAX	chr14:65170439-65173969	A549	lung:	n/a	chr14:65173325-65173341 chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
33	POLR2A	chr14:65170804-65171498	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr14:65170741-65170930	GM12878	blood:	n/a	n/a
35	MAX	chr14:65170495-65172967	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
36	EP300	chr14:65170818-65171302	H1-hESC	embryonic stem cell:	n/a	chr14:65170968-65170977 chr14:65171022-65171031
37	MAX	chr14:65170580-65172620	ECC-1	luminal epithelium:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
38	JUND	chr14:65170646-65171386	A549	lung:	n/a	n/a
39	FOXA2	chr14:65170760-65171399	A549	lung:	n/a	n/a
40	EP300	chr14:65170707-65171281	A549	lung:	n/a	chr14:65170968-65170977 chr14:65171022-65171031
41	MYC	chr14:65170015-65171235	MCF10A-Er-Src	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
42	GATA3	chr14:65170555-65171637	A549	lung:	n/a	chr14:65171452-65171462 chr14:65171453-65171462 chr14:65171453-65171460 chr14:65171453-65171460 chr14:65171453-65171460 chr14:65171446-65171467 chr14:65170574-65170585
43	TAF1	chr14:65170521-65171315	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr14:65170720-65171430	ECC-1	luminal epithelium:	n/a	chr14:65170968-65170977 chr14:65171022-65171031
45	TBP	chr14:65170734-65171493	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr14:65170560-65170937	H1-hESC	embryonic stem cell:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
47	MYC	chr14:65170732-65171240	MCF-7	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
48	E2F6	chr14:65170546-65171462	H1-hESC	embryonic stem cell:	n/a	chr14:65170968-65170978
49	TEAD4	chr14:65170790-65171325	A549	lung:	n/a	n/a
50	POLR2A	chr14:65170730-65171366	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr10:75910632..75911387-chr14:65170334..65171284,2	HCT-116	colon:
4	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
5	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
8	chr14:65170634..65173219-chr14:65206307..65208864,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTB-1	chr14:65170749-65170923	XLOC_011052

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000185009	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000156110	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3437023	chr14:65170024-65173072	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65169200-65171200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65169400-65171000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr14:65169400-65171000	Flanking Active TSS	HMEC	breast
5	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
7	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr14:65169600-65171000	Flanking Active TSS	NHEK	skin
11	chr14:65169600-65171200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:65169600-65171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr14:65169600-65172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:65169800-65171000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr14:65169800-65171200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr14:65169800-65172200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:65169800-65172200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:65169800-65172400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:65169800-65172600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr14:65169800-65173600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr14:65170000-65171000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:65170000-65171200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr14:65170000-65172600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:65170200-65171000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:65170200-65171000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:65170200-65171000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr14:65170200-65171000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr14:65170200-65171000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr14:65170200-65171000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:65170200-65171000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:65170200-65171000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:65170200-65172200	Active TSS	Small Intestine	intestine
34	chr14:65170200-65172600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:65170400-65171000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
36	chr14:65170400-65171000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:65170400-65171000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:65170400-65171000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr14:65170400-65171000	Flanking Active TSS	Hela-S3	cervix
40	chr14:65170400-65171000	Flanking Active TSS	NH-A	brain
41	chr14:65170400-65172400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:65170400-65172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:65170400-65172600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:65170400-65172800	Active TSS	Brain Cingulate Gyrus	brain
45	chr14:65170600-65171000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:65170600-65171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:65170600-65171000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:65170600-65171000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr14:65170600-65171000	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
50	chr14:65170600-65171000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood

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