Variant report

Variant	rs587609019
Chromosome Location	chr14:105559717-105559718
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	TCF12	chr14:105556669-105559848	ECC-1	luminal epithelium:	n/a	chr14:105558705-105558715 chr14:105556711-105556721 chr14:105558506-105558516 chr14:105558328-105558335 chr14:105556879-105556889 chr14:105556900-105556910 chr14:105558295-105558305 chr14:105557507-105557514
2	NRF1	chr14:105559146-105560604	SK-N-SH	brain:	n/a	chr14:105559638-105559649 chr14:105559640-105559649 chr14:105559598-105559607 chr14:105559638-105559652 chr14:105559635-105559649 chr14:105559574-105559583
3	POLR2A	chr14:105557226-105561146	A549	lung:	n/a	n/a
4	POLR2A	chr14:105559404-105559744	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:105559482-105560477	MCF10A-Er-Src	breast:	n/a	n/a
6	GABPA	chr14:105559359-105559758	K562	blood:	n/a	chr14:105559638-105559649 chr14:105559640-105559649 chr14:105559598-105559607 chr14:105559638-105559652 chr14:105559635-105559649 chr14:105559574-105559583
7	MAX	chr14:105556809-105559855	ECC-1	luminal epithelium:	n/a	chr14:105558119-105558129 chr14:105558711-105558721 chr14:105558880-105558895 chr14:105559297-105559307 chr14:105559437-105559447 chr14:105558887-105558897
8	POLR2A	chr14:105559345-105560313	GM12878	blood:	n/a	n/a
9	TCF12	chr14:105552661-105561002	A549	lung:	n/a	chr14:105555506-105555515 chr14:105554733-105554741 chr14:105554099-105554109 chr14:105560562-105560572 chr14:105558705-105558715 chr14:105556711-105556721 chr14:105560974-105560982 chr14:105558506-105558516 chr14:105555994-105556004 chr14:105558328-105558335 chr14:105556609-105556616 chr14:105556879-105556889 chr14:105556900-105556910 chr14:105558295-105558305 chr14:105557507-105557514
10	FOXP2	chr14:105559510-105559754	PFSK-1	brain:	n/a	n/a
11	ELF1	chr14:105559319-105559718	GM12878	blood:	n/a	n/a
12	E2F6	chr14:105557679-105559822	A549	lung:	n/a	chr14:105559639-105559648 chr14:105559574-105559583 chr14:105559645-105559654 chr14:105559790-105559797 chr14:105559118-105559128
13	YY1	chr14:105558994-105559776	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr14:105559419-105559762	SK-N-SH	brain:	n/a	chr14:105559437-105559447
15	POLR2A	chr14:105559536-105560378	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF7L2	chr14:105558880-105559764	HCT-116	colon:	n/a	n/a
17	POLR2A	chr14:105557763-105560968	A549	lung:	n/a	n/a
18	POLR2A	chr14:105557708-105560589	HCT-116	colon:	n/a	n/a
19	POLR2A	chr14:105557554-105560595	A549	lung:	n/a	n/a
20	YY1	chr14:105559134-105559727	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr14:105559517-105559729	K562	blood:	n/a	n/a
22	EP300	chr14:105556632-105561231	ECC-1	luminal epithelium:	n/a	chr14:105559405-105559421 chr14:105557498-105557514 chr14:105559121-105559137 chr14:105557385-105557401 chr14:105556882-105556898 chr14:105559636-105559652 chr14:105558269-105558285
23	TCF12	chr14:105556770-105559846	ECC-1	luminal epithelium:	n/a	chr14:105558705-105558715 chr14:105558506-105558516 chr14:105558328-105558335 chr14:105556879-105556889 chr14:105556900-105556910 chr14:105558295-105558305 chr14:105557507-105557514
24	ZBTB7A	chr14:105556759-105561147	ECC-1	luminal epithelium:	n/a	chr14:105559442-105559450 chr14:105557003-105557012
25	POLR2A	chr14:105559502-105560529	K562	blood:	n/a	n/a
26	POLR2A	chr14:105559357-105560423	GM18505	blood:	n/a	n/a
27	SP1	chr14:105556409-105559717	A549	lung:	n/a	chr14:105558852-105558866 chr14:105556553-105556562 chr14:105559432-105559446 chr14:105559068-105559078 chr14:105558120-105558129 chr14:105558467-105558481 chr14:105558084-105558096 chr14:105556549-105556563 chr14:105557021-105557030 chr14:105559300-105559309 chr14:105557838-105557852 chr14:105558179-105558189 chr14:105558118-105558130 chr14:105559573-105559585 chr14:105558118-105558130 chr14:105556552-105556564 chr14:105559068-105559082 chr14:105558886-105558898 chr14:105559067-105559079 chr14:105558851-105558864 chr14:105558886-105558898 chr14:105559575-105559584 chr14:105559068-105559077 chr14:105558119-105558129 chr14:105559069-105559078 chr14:105558887-105558897 chr14:105558119-105558128 chr14:105558856-105558865 chr14:105559068-105559078
28	POLR2A	chr14:105559435-105560373	GM15510	blood:	n/a	n/a
29	ZNF143	chr14:105559398-105559739	GM12878	blood:	n/a	n/a
30	MYC	chr14:105559546-105560357	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB7A	chr14:105558922-105560907	ECC-1	luminal epithelium:	n/a	chr14:105559442-105559450
32	EGR1	chr14:105559165-105560966	HCT-116	colon:	n/a	chr14:105560432-105560445 chr14:105560323-105560333 chr14:105560259-105560272 chr14:105560280-105560294 chr14:105560174-105560187 chr14:105559297-105559307 chr14:105560842-105560852 chr14:105560279-105560292 chr14:105560260-105560274 chr14:105559639-105559648 chr14:105559296-105559306
33	POLR2A	chr14:105557654-105559803	HCT-116	colon:	n/a	n/a
34	PML	chr14:105559297-105559722	GM12878	blood:	n/a	n/a
35	RCOR1	chr14:105559457-105559725	GM12878	blood:	n/a	n/a
36	EP300	chr14:105556277-105559811	A549	lung:	n/a	chr14:105559405-105559421 chr14:105557498-105557514 chr14:105559121-105559137 chr14:105557385-105557401 chr14:105556882-105556898 chr14:105559636-105559652 chr14:105558269-105558285
37	POLR2A	chr14:105559462-105560311	GM19193	blood:	n/a	n/a
38	POLR2A	chr14:105557741-105560748	ECC-1	luminal epithelium:	n/a	n/a
39	TEAD4	chr14:105559250-105559896	ECC-1	luminal epithelium:	n/a	n/a
40	ETS1	chr14:105557711-105559732	A549	lung:	n/a	chr14:105559572-105559583 chr14:105558854-105558865 chr14:105559297-105559308 chr14:105558263-105558276
41	POLR2A	chr14:105559422-105559791	GM12878	blood:	n/a	n/a
42	MXI1	chr14:105558216-105560432	IMR90	lung:	n/a	n/a
43	NRF1	chr14:105559344-105559832	GM12878	blood:	n/a	chr14:105559638-105559649 chr14:105559640-105559649 chr14:105559598-105559607 chr14:105559638-105559652 chr14:105559635-105559649 chr14:105559574-105559583
44	MAX	chr14:105557289-105560967	ECC-1	luminal epithelium:	n/a	chr14:105558119-105558129 chr14:105560838-105560848 chr14:105558711-105558721 chr14:105558880-105558895 chr14:105559297-105559307 chr14:105559437-105559447 chr14:105558887-105558897
45	E2F6	chr14:105559445-105559737	K562	blood:	n/a	chr14:105559639-105559648 chr14:105559574-105559583 chr14:105559645-105559654
46	SIN3AK20	chr14:105559247-105559805	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr14:105556570-105561156	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr14:105559258-105559833	HUVEC	blood vessel:	n/a	n/a
49	E2F6	chr14:105559530-105559734	K562	blood:	n/a	chr14:105559639-105559648 chr14:105559574-105559583 chr14:105559645-105559654
50	POLR2A	chr14:105559378-105559842	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105559128..105559804-chr4:53578465..53579113,2	HCT-116	colon:
2	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257556	TF binding region
ENSG00000264585	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000184916	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3353199	chr14:105558957-105560855	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr14:105556400-105559800	Enhancers	Spleen	Spleen
2	chr14:105556600-105559800	Enhancers	Fetal Heart	heart
3	chr14:105556800-105560000	Enhancers	Liver	Liver
4	chr14:105557400-105559800	Enhancers	Fetal Brain Male	brain
5	chr14:105557800-105561000	Flanking Active TSS	Colonic Mucosa	Colon
6	chr14:105557800-105561000	Flanking Active TSS	HMEC	breast
7	chr14:105558600-105560800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:105558800-105560000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr14:105558800-105560400	Active TSS	Fetal Brain Female	brain
10	chr14:105559000-105559800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:105559000-105559800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:105559000-105560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:105559000-105560000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr14:105559000-105560000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:105559000-105560400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:105559000-105560400	Active TSS	Aorta	Aorta
17	chr14:105559000-105560400	Active TSS	A549	lung
18	chr14:105559000-105560600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:105559000-105560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:105559000-105560800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:105559000-105560800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:105559000-105561200	Flanking Active TSS	Dnd41	blood
23	chr14:105559200-105560400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr14:105559200-105560400	Active TSS	Gastric	stomach
25	chr14:105559200-105560400	Active TSS	Small Intestine	intestine
26	chr14:105559200-105560600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:105559200-105560600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr14:105559200-105560600	Bivalent/Poised TSS	Thymus	Thymus
29	chr14:105559200-105560800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:105559200-105560800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:105559200-105560800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:105559200-105560800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:105559200-105560800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:105559400-105560000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:105559400-105560000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:105559400-105560200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr14:105559400-105560200	Active TSS	Fetal Lung	lung
38	chr14:105559400-105560400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:105559400-105560400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:105559400-105560400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:105559400-105560400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:105559400-105560400	Active TSS	Primary T cells from cord blood	blood
43	chr14:105559400-105560400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:105559400-105560400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:105559400-105560400	Active TSS	Brain Anterior Caudate	brain
46	chr14:105559400-105560400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr14:105559400-105560400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:105559400-105560400	Active TSS	Colon Smooth Muscle	Colon
49	chr14:105559400-105560400	Active TSS	Duodenum Mucosa	Duodenum
50	chr14:105559400-105560400	Active TSS	Fetal Intestine Large	intestine

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