Variant report

Variant	rs562250392
Chromosome Location	chr14:105533083-105533084
allele	A/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	MAX	chr14:105532726-105533296	GM12878	blood:	n/a	chr14:105532881-105532891
2	POLR2A	chr14:105529893-105533288	GM12891	blood:	n/a	n/a
3	EP300	chr14:105532770-105533138	GM12878	blood:	n/a	chr14:105532896-105532912 chr14:105532899-105532915
4	YY1	chr14:105532755-105533172	GM12878	blood:	n/a	chr14:105532806-105532828 chr14:105532804-105532823
5	RAD21	chr14:105532729-105533092	ECC-1	luminal epithelium:	n/a	chr14:105532899-105532909 chr14:105532834-105532848 chr14:105532833-105532852 chr14:105532898-105532911 chr14:105533069-105533079
6	POLR2A	chr14:105530960-105534026	GM18526	blood:	n/a	n/a
7	POLR2A	chr14:105524383-105533160	GM12891	blood:	n/a	n/a
8	POLR2A	chr14:105530869-105533961	GM12878	blood:	n/a	n/a
9	CTCF	chr14:105532960-105533110	WERI-Rb-1	eye:	n/a	n/a
10	YY1	chr14:105530915-105533143	GM12892	blood:	n/a	chr14:105532806-105532828 chr14:105532343-105532354 chr14:105531133-105531147 chr14:105531647-105531658 chr14:105532804-105532823 chr14:105531582-105531592
11	ATF2	chr14:105532672-105533249	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:105530997-105533349	GM15510	blood:	n/a	n/a
13	POLR2A	chr14:105531060-105533127	GM10847	blood:	n/a	n/a
14	EGR1	chr14:105532862-105533096	GM12878	blood:	n/a	chr14:105532961-105532975 chr14:105532961-105532972
15	CHD2	chr14:105531069-105533914	GM12878	blood:	n/a	n/a
16	TCF12	chr14:105532717-105533242	GM12878	blood:	n/a	n/a
17	EBF1	chr14:105532784-105534042	GM12878	blood:	n/a	chr14:105533066-105533077 chr14:105533497-105533507 chr14:105533498-105533507
18	POLR2A	chr14:105530908-105533385	GM12878	blood:	n/a	n/a
19	RELA	chr14:105531087-105533174	GM15510	blood:	n/a	chr14:105532993-105533002 chr14:105532993-105533002
20	RCOR1	chr14:105532890-105534082	GM12878	blood:	n/a	n/a
21	MXI1	chr14:105530967-105533083	GM12878	blood:	n/a	chr14:105532882-105532891
22	POLR2A	chr14:105530946-105533188	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:105529905-105534031	GM19099	blood:	n/a	n/a
24	TBL1XR1	chr14:105530937-105533233	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:105524037-105534209	GM12878	blood:	n/a	n/a
26	NFIC	chr14:105530912-105533262	GM12878	blood:	n/a	n/a
27	TCF12	chr14:105532761-105533098	GM12878	blood:	n/a	n/a
28	USF2	chr14:105532846-105533177	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:105529890-105533114	GM12891	blood:	n/a	n/a
30	POLR2A	chr14:105532652-105533201	MCF-7	breast:	n/a	n/a
31	POU2F2	chr14:105530808-105533350	GM12878	blood:	n/a	chr14:105532074-105532086 chr14:105532310-105532322 chr14:105531682-105531694 chr14:105532237-105532249
32	PAX5	chr14:105532780-105533201	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:105530913-105533126	GM12878	blood:	n/a	n/a
34	EBF1	chr14:105532130-105533321	GM12878	blood:	n/a	chr14:105533066-105533077
35	STAT5A	chr14:105530796-105534132	GM12878	blood:	n/a	chr14:105533482-105533493 chr14:105532716-105532728 chr14:105533824-105533831 chr14:105532312-105532324
36	PML	chr14:105530805-105533371	GM12878	blood:	n/a	chr14:105531304-105531312 chr14:105532462-105532470
37	MAZ	chr14:105530979-105533386	GM12878	blood:	n/a	chr14:105532562-105532571 chr14:105531208-105531217 chr14:105531206-105531219 chr14:105531208-105531217 chr14:105531208-105531217
38	RUNX3	chr14:105530869-105533246	GM12878	blood:	n/a	chr14:105531819-105531828 chr14:105531819-105531828
39	CTCF	chr14:105532777-105533087	GM12892	blood:	n/a	chr14:105532835-105532848 chr14:105532832-105532850 chr14:105532899-105532912
40	BCL3	chr14:105532742-105533181	GM12878	blood:	n/a	chr14:105532994-105533003
41	RUNX3	chr14:105532625-105533256	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:105529865-105534212	GM12892	blood:	n/a	n/a
43	ZNF143	chr14:105532641-105533207	GM12878	blood:	n/a	n/a
44	TCF3	chr14:105532638-105533483	GM12878	blood:	n/a	n/a
45	EBF1	chr14:105532762-105533275	GM12878	blood:	n/a	chr14:105533066-105533077
46	BHLHE40	chr14:105530959-105534300	GM12878	blood:	n/a	chr14:105533847-105533868 chr14:105531209-105531218 chr14:105533852-105533861 chr14:105533853-105533862 chr14:105531206-105531219 chr14:105533854-105533863 chr14:105533690-105533706 chr14:105531208-105531217 chr14:105531207-105531216 chr14:105531202-105531223 chr14:105531987-105532003 chr14:105533853-105533862 chr14:105531208-105531217 chr14:105533851-105533864
47	BCLAF1	chr14:105531564-105533180	GM12878	blood:	n/a	chr14:105532204-105532213 chr14:105532994-105533003
48	RAD21	chr14:105532783-105533093	GM12878	blood:	n/a	chr14:105532899-105532909 chr14:105532834-105532848 chr14:105532833-105532852 chr14:105532898-105532911 chr14:105533069-105533079
49	EP300	chr14:105532748-105533330	GM12878	blood:	n/a	chr14:105532896-105532912 chr14:105532899-105532915
50	POLR2A	chr14:105530939-105534080	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
2	chr14:105441607..105442989-chr14:105532142..105533415,5	MCF-7	breast:
3	chr14:105526612..105528156-chr14:105531987..105533882,2	MCF-7	breast:
4	chr14:105442748..105444564-chr14:105532745..105535377,2	MCF-7	breast:
5	chr14:105442222..105443029-chr14:105532523..105533452,3	MCF-7	breast:
6	chr14:105532364..105534497-chr14:105539681..105543125,3	K562	blood:

Variant related genes	Relation type
GPR132	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
15	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
18	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv983941	chr14:105485574-105534240	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv902426	chr14:105500760-105537476	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
24	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv902428	chr14:105531945-105555396	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats 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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105525600-105534200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr14:105525800-105533400	Weak transcription	Osteobl	bone
3	chr14:105528800-105542000	Weak transcription	Right Atrium	heart
4	chr14:105531000-105534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:105531000-105534600	Enhancers	Spleen	Spleen
6	chr14:105531400-105542800	Weak transcription	Gastric	stomach
7	chr14:105531600-105533600	Weak transcription	NHLF	lung
8	chr14:105531600-105534200	Enhancers	Fetal Muscle Leg	muscle
9	chr14:105531600-105536600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:105531600-105536600	Weak transcription	Pancreas	Pancrea
11	chr14:105531800-105533600	Weak transcription	A549	lung
12	chr14:105531800-105534200	Enhancers	Thymus	Thymus
13	chr14:105531800-105534200	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:105532000-105533200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:105532000-105533200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:105532000-105533200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:105532000-105533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:105532000-105533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:105532000-105533600	Weak transcription	HSMMtube	muscle
20	chr14:105532000-105534000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:105532000-105534200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr14:105532200-105533200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:105532200-105533200	Weak transcription	Stomach Mucosa	stomach
24	chr14:105532200-105534400	Enhancers	Fetal Thymus	thymus
25	chr14:105532200-105535200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:105532400-105533400	Weak transcription	Esophagus	oesophagus
27	chr14:105532400-105533600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:105532400-105533800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:105532400-105533800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:105532400-105534200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:105532400-105534200	Enhancers	Placenta	Placenta
32	chr14:105532400-105536600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:105532600-105533800	Enhancers	Primary T cells from cord blood	blood
34	chr14:105532600-105534400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:105532600-105534400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:105532600-105534600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr14:105532600-105538200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:105532600-105538400	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:105532600-105538800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:105532800-105533200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:105532800-105533200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:105532800-105533200	Weak transcription	NHEK	skin
43	chr14:105532800-105533400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:105532800-105533400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:105532800-105533600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:105532800-105533800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:105532800-105534400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:105532800-105534400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:105532800-105534400	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:105532800-105534600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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