Variant report

Variant	rs59889078
Chromosome Location	chr14:105526726-105526727
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	POLR2A	chr14:105524383-105533160	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:105526546-105526893	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:105526427-105528790	GM12892	blood:	n/a	n/a
4	PAX5	chr14:105526460-105526802	GM12878	blood:	n/a	chr14:105526632-105526650
5	PAX5	chr14:105526393-105526831	GM12892	blood:	n/a	chr14:105526632-105526650
6	MTA3	chr14:105526409-105528898	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:105526644-105528671	GM18951	blood:	n/a	n/a
8	PAX5	chr14:105526568-105526747	GM12878	blood:	n/a	chr14:105526632-105526650
9	POLR2A	chr14:105524037-105534209	GM12878	blood:	n/a	n/a
10	PAX5	chr14:105526334-105526941	GM12878	blood:	n/a	chr14:105526632-105526650
11	POLR2A	chr14:105526624-105528149	HL-60	blood:	n/a	n/a
12	PAX5	chr14:105526469-105526833	GM12878	blood:	n/a	chr14:105526632-105526650
13	POLR2A	chr14:105526274-105526902	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:105524804-105528827	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:105526316-105528765	HL-60	blood:	n/a	n/a
16	POLR2A	chr14:105526233-105528822	GM18505	blood:	n/a	n/a
17	POLR2A	chr14:105524257-105534197	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:105524755-105529852	GM12892	blood:	n/a	n/a
19	POLR2A	chr14:105524856-105529737	GM12891	blood:	n/a	n/a
20	POLR2A	chr14:105524880-105534106	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:105526230-105529741	GM12892	blood:	n/a	n/a
22	POLR2A	chr14:105524006-105534458	GM12892	blood:	n/a	n/a
23	POLR2A	chr14:105526367-105528818	GM19193	blood:	n/a	n/a
24	POLR2A	chr14:105526291-105528799	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:105524819-105528835	GM12891	blood:	n/a	n/a
26	POLR2A	chr14:105524513-105534115	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:105526399-105528819	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	chr14:105526681..105528779-chr14:105538234..105540945,2	K562	blood:
5	chr14:105525277..105527273-chr14:105531148..105532800,2	K562	blood:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56879552	0.96[ASN][1000 genomes]
rs57029322	0.96[ASN][1000 genomes]
rs57510708	0.96[ASN][1000 genomes]
rs58571201	0.88[ASN][1000 genomes]
rs59870288	0.96[ASN][1000 genomes]
rs60317283	0.96[ASN][1000 genomes]
rs60664931	0.87[ASN][1000 genomes]
rs61274642	1.00[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105517400-105527000	Weak transcription	Fetal Intestine Small	intestine
2	chr14:105518400-105527400	Weak transcription	Gastric	stomach
3	chr14:105522800-105531000	Weak transcription	Brain Anterior Caudate	brain
4	chr14:105523000-105531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105524400-105526800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:105524600-105528800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr14:105524600-105530800	Enhancers	Placenta	Placenta
8	chr14:105524800-105527000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:105524800-105527200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:105524800-105528600	Enhancers	Fetal Muscle Leg	muscle
11	chr14:105524800-105528800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:105524800-105530600	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:105524800-105530800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:105525000-105526800	Enhancers	Adipose Nuclei	Adipose
15	chr14:105525000-105526800	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr14:105525000-105526800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr14:105525000-105527000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105525000-105527200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:105525000-105527200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr14:105525000-105527400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:105525000-105527400	Enhancers	Fetal Thymus	thymus
22	chr14:105525000-105527400	Enhancers	Stomach Smooth Muscle	stomach
23	chr14:105525000-105528800	Enhancers	Right Ventricle	heart
24	chr14:105525000-105528800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr14:105525000-105529000	Enhancers	Lung	lung
26	chr14:105525000-105529000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:105525200-105526800	Enhancers	Colonic Mucosa	Colon
28	chr14:105525200-105528600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr14:105525400-105527200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:105525400-105527600	Enhancers	Spleen	Spleen
31	chr14:105525400-105528000	Enhancers	Thymus	Thymus
32	chr14:105525600-105527000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:105525600-105527200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:105525600-105528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:105525600-105529800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr14:105525600-105530800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr14:105525600-105531000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:105525600-105534200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:105525800-105527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105525800-105528400	Enhancers	Fetal Lung	lung
41	chr14:105525800-105528800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:105525800-105529800	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr14:105525800-105530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:105525800-105531400	Weak transcription	HSMMtube	muscle
45	chr14:105525800-105533400	Weak transcription	Osteobl	bone
46	chr14:105526000-105527600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:105526000-105527800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr14:105526000-105528400	Enhancers	HUVEC	blood vessel
49	chr14:105526200-105527000	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:105526200-105527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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