Variant report

Variant	rs59870288
Chromosome Location	chr14:105528155-105528156
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	CUX1	chr14:105528010-105528382	GM12878	blood:	n/a	n/a
2	MTA3	chr14:105527824-105528488	GM12878	blood:	n/a	n/a
3	TCF3	chr14:105527483-105528414	GM12878	blood:	n/a	chr14:105527708-105527723 chr14:105527710-105527720 chr14:105527711-105527720 chr14:105527731-105527747
4	BCLAF1	chr14:105527682-105528628	GM12878	blood:	n/a	chr14:105528226-105528235 chr14:105528439-105528448
5	MAX	chr14:105527816-105528651	GM12878	blood:	n/a	chr14:105528568-105528578 chr14:105528512-105528522 chr14:105528078-105528088
6	PBX3	chr14:105528014-105528260	GM12878	blood:	n/a	n/a
7	RUNX3	chr14:105526934-105528778	GM12878	blood:	n/a	n/a
8	RUNX3	chr14:105527601-105528610	GM12878	blood:	n/a	n/a
9	FOXM1	chr14:105527690-105528401	GM12878	blood:	n/a	n/a
10	TCF3	chr14:105527710-105528345	GM12878	blood:	n/a	chr14:105527710-105527720 chr14:105527711-105527720 chr14:105527731-105527747
11	ATF2	chr14:105527799-105528595	GM12878	blood:	n/a	n/a
12	STAT5A	chr14:105527930-105528465	GM12878	blood:	n/a	chr14:105528224-105528235
13	POLR2A	chr14:105524383-105533160	GM12891	blood:	n/a	n/a
14	POLR2A	chr14:105526427-105528790	GM12892	blood:	n/a	n/a
15	NFATC1	chr14:105527025-105528527	GM12878	blood:	n/a	chr14:105527889-105527903
16	PAX5	chr14:105528127-105528385	GM12878	blood:	n/a	chr14:105528226-105528235
17	TBL1XR1	chr14:105527470-105528691	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:105527030-105528775	GM18526	blood:	n/a	n/a
19	TAF1	chr14:105528026-105528400	GM12878	blood:	n/a	n/a
20	MAZ	chr14:105527140-105528520	GM12878	blood:	n/a	chr14:105527381-105527388 chr14:105527380-105527389 chr14:105528078-105528088 chr14:105527380-105527389 chr14:105527380-105527390
21	ATF2	chr14:105527777-105528339	GM12878	blood:	n/a	n/a
22	YY1	chr14:105528114-105528708	GM12892	blood:	n/a	n/a
23	MTA3	chr14:105526409-105528898	GM12878	blood:	n/a	n/a
24	SP1	chr14:105528047-105528420	GM12878	blood:	n/a	n/a
25	USF2	chr14:105527988-105528728	GM12878	blood:	n/a	n/a
26	YY1	chr14:105528008-105528405	GM12878	blood:	n/a	n/a
27	EP300	chr14:105527692-105528591	GM12878	blood:	n/a	chr14:105527836-105527852
28	POLR2A	chr14:105528073-105528614	GM12878	blood:	n/a	n/a
29	IRF4	chr14:105527855-105528469	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:105526644-105528671	GM18951	blood:	n/a	n/a
31	RELA	chr14:105527791-105528663	GM19099	blood:	n/a	n/a
32	STAT5A	chr14:105527414-105528806	GM12878	blood:	n/a	chr14:105528224-105528235
33	POLR2A	chr14:105527006-105528794	GM12878	blood:	n/a	n/a
34	WRNIP1	chr14:105528036-105528828	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:105524037-105534209	GM12878	blood:	n/a	n/a
36	PAX5	chr14:105526989-105528817	GM12878	blood:	n/a	chr14:105528226-105528235 chr14:105527180-105527189 chr14:105528412-105528431
37	PML	chr14:105528022-105528243	GM12878	blood:	n/a	n/a
38	ELF1	chr14:105527639-105528423	GM12878	blood:	n/a	n/a
39	SMC3	chr14:105527722-105528188	GM12878	blood:	n/a	n/a
40	EBF1	chr14:105527714-105528506	GM12878	blood:	n/a	chr14:105527990-105528000 chr14:105527991-105528000
41	POLR2A	chr14:105526901-105528807	GM19099	blood:	n/a	n/a
42	POLR2A	chr14:105527099-105528674	GM15510	blood:	n/a	n/a
43	POLR2A	chr14:105524804-105528827	GM12891	blood:	n/a	n/a
44	ELF1	chr14:105526978-105528737	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:105526316-105528765	HL-60	blood:	n/a	n/a
46	BHLHE40	chr14:105527062-105528447	GM12878	blood:	n/a	chr14:105527217-105527233
47	BCL3	chr14:105527850-105528355	GM12878	blood:	n/a	chr14:105528226-105528235
48	IRF4	chr14:105527919-105528359	GM12878	blood:	n/a	n/a
49	EP300	chr14:105527812-105528305	GM12878	blood:	n/a	chr14:105527836-105527852
50	TCF12	chr14:105528007-105528403	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105525277..105528806-chr14:105530865..105534039,3	K562	blood:
2	chr14:105522574..105524801-chr14:105525749..105528494,2	K562	blood:
3	chr14:105526612..105528156-chr14:105531987..105533882,2	MCF-7	breast:
4	chr14:105516320..105518452-chr14:105527074..105529358,2	MCF-7	breast:
5	chr14:105526681..105528779-chr14:105538234..105540945,2	K562	blood:

Variant related genes	Relation type
GPR132	TF binding region
ENSG00000183484	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11846421	0.83[ASN][1000 genomes]
rs1583854	0.83[ASN][1000 genomes]
rs2819467	0.83[ASN][1000 genomes]
rs56879552	1.00[ASN][1000 genomes]
rs57029322	1.00[ASN][1000 genomes]
rs57510708	1.00[ASN][1000 genomes]
rs58571201	0.92[ASN][1000 genomes]
rs59889078	0.96[ASN][1000 genomes]
rs59917589	0.83[ASN][1000 genomes]
rs60317283	1.00[ASN][1000 genomes]
rs60664931	0.91[ASN][1000 genomes]
rs61274642	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105522800-105531000	Weak transcription	Brain Anterior Caudate	brain
2	chr14:105523000-105531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:105524600-105528800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr14:105524600-105530800	Enhancers	Placenta	Placenta
5	chr14:105524800-105528600	Enhancers	Fetal Muscle Leg	muscle
6	chr14:105524800-105528800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr14:105524800-105530600	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:105524800-105530800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:105525000-105528800	Enhancers	Right Ventricle	heart
10	chr14:105525000-105528800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr14:105525000-105529000	Enhancers	Lung	lung
12	chr14:105525000-105529000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:105525200-105528600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:105525600-105528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:105525600-105529800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr14:105525600-105530800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:105525600-105531000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:105525600-105534200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:105525800-105528400	Enhancers	Fetal Lung	lung
20	chr14:105525800-105528800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:105525800-105529800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr14:105525800-105530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:105525800-105531400	Weak transcription	HSMMtube	muscle
24	chr14:105525800-105533400	Weak transcription	Osteobl	bone
25	chr14:105526000-105528400	Enhancers	HUVEC	blood vessel
26	chr14:105526200-105528800	Enhancers	Left Ventricle	heart
27	chr14:105526200-105529600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:105526200-105531000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:105526400-105528800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:105526400-105528800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr14:105526400-105528800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:105526400-105531200	Weak transcription	Pancreas	Pancrea
33	chr14:105526400-105531200	Weak transcription	Small Intestine	intestine
34	chr14:105526400-105532800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr14:105526600-105528600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr14:105526600-105528600	Enhancers	Fetal Intestine Large	intestine
37	chr14:105526600-105528800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr14:105526600-105531400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:105526600-105531600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr14:105526800-105528800	Enhancers	Fetal Stomach	stomach
41	chr14:105526800-105529200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr14:105527000-105528200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:105527000-105528800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:105527000-105528800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:105527000-105528800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr14:105527000-105528800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr14:105527000-105529400	Enhancers	Fetal Intestine Small	intestine
48	chr14:105527000-105530600	Weak transcription	Liver	Liver
49	chr14:105527200-105528200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr14:105527200-105528800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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