Variant report

Variant	rs587622247
Chromosome Location	chr14:105559237-105559238
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	BCL3	chr14:105557664-105559598	A549	lung:	n/a	chr14:105558706-105558719 chr14:105559120-105559133
2	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
3	MYC	chr14:105556712-105559367	A549	lung:	n/a	chr14:105558119-105558129 chr14:105558711-105558721 chr14:105558880-105558895 chr14:105559297-105559307 chr14:105558887-105558897
4	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
5	POLR2A	chr14:105557226-105561146	A549	lung:	n/a	n/a
6	BCL3	chr14:105556352-105559650	A549	lung:	n/a	chr14:105559601-105559614 chr14:105558706-105558719 chr14:105559120-105559133
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	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
9	TCF3	chr14:105559022-105559310	GM12878	blood:	n/a	n/a
10	E2F6	chr14:105557679-105559822	A549	lung:	n/a	chr14:105559639-105559648 chr14:105559574-105559583 chr14:105559645-105559654 chr14:105559790-105559797 chr14:105559118-105559128
11	YY1	chr14:105558994-105559776	ECC-1	luminal epithelium:	n/a	n/a
12	TCF7L2	chr14:105558880-105559764	HCT-116	colon:	n/a	n/a
13	POLR2A	chr14:105557763-105560968	A549	lung:	n/a	n/a
14	POLR2A	chr14:105557708-105560589	HCT-116	colon:	n/a	n/a
15	POLR2A	chr14:105557554-105560595	A549	lung:	n/a	n/a
16	BACH1	chr14:105559035-105559660	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr14:105559134-105559727	ECC-1	luminal epithelium:	n/a	n/a
18	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
19	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
20	ZBTB7A	chr14:105556759-105561147	ECC-1	luminal epithelium:	n/a	chr14:105559442-105559450 chr14:105557003-105557012
21	JUND	chr14:105557310-105559380	A549	lung:	n/a	chr14:105558659-105558673 chr14:105559299-105559308
22	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
23	ZBTB7A	chr14:105558922-105560907	ECC-1	luminal epithelium:	n/a	chr14:105559442-105559450
24	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
25	POLR2A	chr14:105557654-105559803	HCT-116	colon:	n/a	n/a
26	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
27	POLR2A	chr14:105557741-105560748	ECC-1	luminal epithelium:	n/a	n/a
28	ETS1	chr14:105557711-105559732	A549	lung:	n/a	chr14:105559572-105559583 chr14:105558854-105558865 chr14:105559297-105559308 chr14:105558263-105558276
29	MXI1	chr14:105558216-105560432	IMR90	lung:	n/a	n/a
30	E2F6	chr14:105558271-105559248	A549	lung:	n/a	chr14:105559118-105559128
31	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
32	FOSL2	chr14:105557664-105559409	A549	lung:	n/a	chr14:105558659-105558673 chr14:105559299-105559308
33	TAF1	chr14:105557902-105559705	A549	lung:	n/a	n/a
34	POLR2A	chr14:105556570-105561156	ECC-1	luminal epithelium:	n/a	n/a
35	REST	chr14:105558982-105559648	A549	lung:	n/a	chr14:105559566-105559584
36	TCF12	chr14:105557581-105559237	A549	lung:	n/a	chr14:105558705-105558715 chr14:105558506-105558516 chr14:105558328-105558335 chr14:105558295-105558305
37	GATA3	chr14:105556487-105560938	A549	lung:	n/a	chr14:105558243-105558250
38	ZNF263	chr14:105558931-105559500	HEK293-T-REx	kidney:	n/a	chr14:105559236-105559245 chr14:105559097-105559118
39	TAF1	chr14:105557830-105559865	ECC-1	luminal epithelium:	n/a	n/a
40	NFIC	chr14:105556703-105559874	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr14:105558920-105560650	HUVEC	blood vessel:	n/a	n/a
42	ELF1	chr14:105559018-105559773	GM12878	blood:	n/a	n/a
43	MAX	chr14:105557808-105560496	A549	lung:	n/a	chr14:105558119-105558129 chr14:105558711-105558721 chr14:105558880-105558895 chr14:105559297-105559307 chr14:105559437-105559447 chr14:105558887-105558897
44	POLR2A	chr14:105556515-105561171	A549	lung:	n/a	n/a
45	MTA3	chr14:105559063-105559653	GM12878	blood:	n/a	n/a
46	SIX5	chr14:105556454-105559680	A549	lung:	n/a	n/a
47	YY1	chr14:105559013-105559702	A549	lung:	n/a	n/a
48	SP1	chr14:105556399-105559803	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
49	NFIC	chr14:105556702-105559782	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr14:105559122-105559726	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105541940..105543448-chr14:105558104..105559608,2	K562	blood:
2	chr14:105478025..105480499-chr14:105557134..105559367,2	MCF-7	breast:
3	chr14:105556660..105559437-chr14:105588253..105590015,2	MCF-7	breast:
4	chr14:105559128..105559804-chr4:53578465..53579113,2	HCT-116	colon:
5	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:
6	chr14:105433754..105435630-chr14:105557991..105559597,2	MCF-7	breast:
7	chr14:105444294..105445839-chr14:105557247..105559531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257556	TF binding region
ENSG00000184916	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000226950	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105556400-105559600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:105556400-105559800	Enhancers	Spleen	Spleen
3	chr14:105556600-105559800	Enhancers	Fetal Heart	heart
4	chr14:105556800-105560000	Enhancers	Liver	Liver
5	chr14:105557000-105559400	Enhancers	Brain Anterior Caudate	brain
6	chr14:105557000-105559600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr14:105557200-105559400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:105557200-105559400	Enhancers	HSMMtube	muscle
9	chr14:105557400-105559400	Flanking Active TSS	Hela-S3	cervix
10	chr14:105557400-105559600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:105557400-105559800	Enhancers	Fetal Brain Male	brain
12	chr14:105557600-105559600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:105557800-105561000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr14:105557800-105561000	Flanking Active TSS	HMEC	breast
15	chr14:105558000-105559400	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr14:105558000-105559600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:105558000-105559600	Flanking Active TSS	NHEK	skin
18	chr14:105558200-105559600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:105558400-105559400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr14:105558400-105559400	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr14:105558400-105559400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr14:105558400-105559400	Flanking Active TSS	Osteobl	bone
23	chr14:105558400-105559600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:105558400-105559600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:105558400-105559600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:105558400-105559600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr14:105558600-105559400	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr14:105558600-105559400	Flanking Active TSS	Lung	lung
29	chr14:105558600-105559600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:105558600-105559600	Enhancers	HepG2	liver
31	chr14:105558600-105560800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:105558800-105559400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:105558800-105559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:105558800-105559400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:105558800-105559400	Enhancers	K562	blood
36	chr14:105558800-105559600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:105558800-105559600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:105558800-105560000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr14:105558800-105560400	Active TSS	Fetal Brain Female	brain
40	chr14:105559000-105559400	Enhancers	Primary B cells from cord blood	blood
41	chr14:105559000-105559400	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:105559000-105559400	Enhancers	Primary T cells from cord blood	blood
43	chr14:105559000-105559400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105559000-105559400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr14:105559000-105559400	Flanking Active TSS	Fetal Lung	lung
46	chr14:105559000-105559400	Flanking Active TSS	Left Ventricle	heart
47	chr14:105559000-105559400	Flanking Active TSS	NH-A	brain
48	chr14:105559000-105559600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:105559000-105559600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:105559000-105559600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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