Variant report

Variant	rs548617401
Chromosome Location	chr14:65170539-65170540
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	CHD1	chr14:65170208-65171187	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr14:65170454-65170796	MCF10A-Er-Src	breast:	n/a	n/a
3	HA-E2F1	chr14:65169675-65172166	MCF-7	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109 chr14:65169782-65169791
4	SIN3AK20	chr14:65169607-65171579	HCT-116	colon:	n/a	n/a
5	FOXM1	chr14:65169581-65171381	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr14:65170439-65173969	A549	lung:	n/a	chr14:65173325-65173341 chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
7	MAX	chr14:65170495-65172967	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
8	MYC	chr14:65170015-65171235	MCF10A-Er-Src	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
9	TAF1	chr14:65170521-65171315	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr14:65170412-65170665	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:65170456-65171992	H1-neurons	neurons:	n/a	n/a
12	MAX	chr14:65170539-65171616	H1-hESC	embryonic stem cell:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
13	MYC	chr14:65170431-65171637	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
14	SIN3A	chr14:65169247-65172845	H1-hESC	embryonic stem cell:	n/a	chr14:65170757-65170768 chr14:65171026-65171039 chr14:65171772-65171781
15	MAX	chr14:65170463-65171579	HCT-116	colon:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
16	POLR2A	chr14:65170346-65171617	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:65170373-65172927	HCT-116	colon:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
18	TAF1	chr14:65170493-65172096	ECC-1	luminal epithelium:	n/a	n/a
19	FOXM1	chr14:65169663-65170573	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr14:65170468-65172596	ECC-1	luminal epithelium:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
21	EP300	chr14:65169537-65172188	ECC-1	luminal epithelium:	n/a	chr14:65170968-65170977 chr14:65171022-65171031
22	POLR2A	chr14:65169213-65172105	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr14:65170484-65171721	H1-neurons	neurons:	n/a	n/a
24	MAX	chr14:65170509-65172661	HepG2	liver:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
25	SIN3AK20	chr14:65170514-65171640	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr14:65169786-65172685	MCF-7	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
27	REST	chr14:65170225-65172797	H1-neurons	neurons:	n/a	chr14:65171938-65171948
28	ELF1	chr14:65170534-65173200	MCF-7	breast:	n/a	chr14:65170695-65170707 chr14:65171838-65171847 chr14:65170967-65170976 chr14:65170969-65170981 chr14:65170773-65170785 chr14:65171019-65171031 chr14:65171480-65171492
29	POLR2A	chr14:65169627-65171518	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr14:65170022-65172720	SK-N-SH	brain:	n/a	n/a
31	MAX	chr14:65170512-65172711	MCF-7	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
32	POLR2A	chr14:65170504-65171023	H1-hESC	embryonic stem cell:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTB-1	chr14:65170511-65170621	XLOC_011052

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000185009	Chromatin interaction
ENSG00000156110	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126822	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65163200-65170600	Weak transcription	Right Ventricle	heart
2	chr14:65163400-65170600	Weak transcription	Right Atrium	heart
3	chr14:65167800-65170600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:65167800-65170600	Enhancers	Brain Angular Gyrus	brain
5	chr14:65168400-65170600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:65169000-65170800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:65169200-65170600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
8	chr14:65169200-65171200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr14:65169400-65170600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:65169400-65170800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr14:65169400-65170800	Enhancers	Lung	lung
13	chr14:65169400-65171000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr14:65169400-65171000	Flanking Active TSS	HMEC	breast
15	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr14:65169600-65170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65169600-65170600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr14:65169600-65170800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:65169600-65170800	Flanking Active TSS	Placenta	Placenta
22	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
23	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr14:65169600-65171000	Flanking Active TSS	NHEK	skin
27	chr14:65169600-65171200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:65169600-65171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr14:65169600-65172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:65169800-65170600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:65169800-65170600	Active TSS	Pancreas	Pancrea
32	chr14:65169800-65170800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:65169800-65170800	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr14:65169800-65171000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr14:65169800-65171200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr14:65169800-65172200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr14:65169800-65172200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:65169800-65172400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:65169800-65172600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr14:65169800-65173600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr14:65170000-65170600	Enhancers	Liver	Liver
42	chr14:65170000-65170600	Weak transcription	Esophagus	oesophagus
43	chr14:65170000-65170600	Bivalent Enhancer	Thymus	Thymus
44	chr14:65170000-65170600	Enhancers	Spleen	Spleen
45	chr14:65170000-65170800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr14:65170000-65170800	Flanking Active TSS	Fetal Heart	heart
47	chr14:65170000-65171000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:65170000-65171200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr14:65170000-65172600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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