Variant report

Variant	rs2295305
Chromosome Location	chr14:24765994-24765995
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	EBF1	chr14:24765845-24766687	GM12878	blood:	n/a	n/a
2	RAD21	chr14:24765863-24766434	HepG2	liver:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
3	STAT3	chr14:24765961-24766508	GM12878	blood:	n/a	n/a
4	BATF	chr14:24765900-24766317	GM12878	blood:	n/a	chr14:24766131-24766142
5	RAD21	chr14:24765966-24766440	Hela-S3	cervix:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
6	RAD21	chr14:24765825-24766622	HepG2	liver:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
7	CTCF	chr14:24765945-24766481	GM12878	blood:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
8	MAX	chr14:24765955-24766388	K562	blood:	n/a	n/a
9	CTCF	chr14:24765949-24766496	HCT-116	colon:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
10	MBD4	chr14:24765655-24767231	HepG2	liver:	n/a	n/a
11	JUND	chr14:24765978-24766369	K562	blood:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
12	CTCF	chr14:24765692-24767247	A549	lung:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
13	YY1	chr14:24765971-24766380	GM12892	blood:	n/a	chr14:24766207-24766226 chr14:24766213-24766221
14	FOXM1	chr14:24765823-24766737	GM12878	blood:	n/a	n/a
15	EBF1	chr14:24765838-24766330	GM12878	blood:	n/a	n/a
16	YY1	chr14:24765967-24766369	GM12878	blood:	n/a	chr14:24766207-24766226 chr14:24766213-24766221
17	CTCF	chr14:24765952-24766413	HepG2	liver:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
18	CTCF	chr14:24765992-24766453	H1-hESC	embryonic stem cell:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
19	CTCF	chr14:24765880-24766030	HEK293	kidney:	n/a	n/a
20	FOS	chr14:24765929-24766378	MCF10A-Er-Src	breast:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
21	CTCF	chr14:24765900-24766050	SAEC	small airway:	n/a	n/a
22	FOXM1	chr14:24765829-24766461	GM12878	blood:	n/a	n/a
23	RUNX3	chr14:24765813-24766746	GM12878	blood:	n/a	n/a
24	MYC	chr14:24765943-24766373	MCF10A-Er-Src	breast:	n/a	n/a
25	MAZ	chr14:24765971-24766465	GM12878	blood:	n/a	n/a
26	CEBPB	chr14:24765916-24766539	GM12878	blood:	n/a	n/a
27	ELK1	chr14:24765898-24766401	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:24765967-24766424	K562	blood:	n/a	n/a
29	FOS	chr14:24765922-24766370	MCF10A-Er-Src	breast:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
30	ATF2	chr14:24765907-24766336	GM12878	blood:	n/a	n/a
31	MTA3	chr14:24765611-24766892	GM12878	blood:	n/a	n/a
32	FOS	chr14:24765966-24766307	MCF10A-Er-Src	breast:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
33	POLR2A	chr14:24765907-24766444	HUVEC	blood vessel:	n/a	n/a
34	RAD21	chr14:24765821-24766631	MCF-7	breast:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
35	SP1	chr14:24765914-24766304	GM12878	blood:	n/a	n/a
36	MYBL2	chr14:24765782-24767282	HepG2	liver:	n/a	n/a
37	CTCF	chr14:24765958-24766469	A549	lung:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
38	RCOR1	chr14:24765865-24766459	GM12878	blood:	n/a	n/a
39	EP300	chr14:24765989-24766268	GM12878	blood:	n/a	chr14:24766130-24766139
40	CTCF	chr14:24765682-24767410	SK-N-SH	brain:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
41	MXI1	chr14:24765985-24766374	GM12878	blood:	n/a	n/a
42	EP300	chr14:24765977-24766442	GM12878	blood:	n/a	chr14:24766130-24766139
43	NFATC1	chr14:24765826-24766550	GM12878	blood:	n/a	n/a
44	RELA	chr14:24765952-24766585	GM18951	blood:	n/a	n/a
45	EBF1	chr14:24765864-24766290	GM12878	blood:	n/a	n/a
46	RAD21	chr14:24765873-24766512	IMR90	lung:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
47	ATF2	chr14:24765811-24766573	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:24765862-24766466	GM12892	blood:	n/a	n/a
49	JUND	chr14:24765983-24766372	HepG2	liver:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
50	RAD21	chr14:24765840-24766560	HCT-116	colon:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240

No.	Distal block	Cell Line	Cell type
1	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
2	chr14:24684803..24685769-chr14:24765772..24766682,4	K562	blood:
3	chr14:24677987..24679713-chr14:24763984..24766313,2	K562	blood:
4	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
5	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
6	chr14:24732047..24734778-chr14:24764163..24766085,2	K562	blood:
7	chr14:24748117..24749826-chr14:24765905..24766674,5	MCF-7	breast:
8	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
9	chr14:24745018..24746771-chr14:24765412..24768322,2	K562	blood:
10	chr14:24717480..24720084-chr14:24765245..24767667,2	K562	blood:
11	chr14:24764989..24768278-chr14:24895035..24897150,3	K562	blood:
12	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
13	chr14:24763977..24766424-chr14:24767437..24769642,2	K562	blood:
14	chr14:24617565..24619359-chr14:24765168..24767839,2	K562	blood:
15	chr14:24711747..24713361-chr14:24764963..24767066,22	MCF-7	breast:
16	chr14:24711567..24712777-chr14:24765600..24767078,6	K562	blood:
17	chr14:24710819..24712965-chr14:24764278..24766988,3	K562	blood:
18	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
19	chr14:24651098..24653035-chr14:24763980..24766397,2	K562	blood:
20	chr14:24748208..24749586-chr14:24765690..24766775,9	MCF-7	breast:

Variant related genes	Relation type
DHRS1	TF binding region
NOP9	TF binding region
ENSG00000092098	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100938	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11574512	1.00[MEX][hapmap]
rs2229660	1.00[MEX][hapmap]
rs2855009	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
4	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
5	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
6	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
8	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
9	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
11	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:24758600-24766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:24758600-24766000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr14:24758600-24766000	Strong transcription	Placenta	Placenta
15	chr14:24758800-24766000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:24759400-24766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:24759800-24766000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:24759800-24766600	Genic enhancers	Liver	Liver
19	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:24761600-24767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:24761800-24768400	Weak transcription	Small Intestine	intestine
23	chr14:24762000-24766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:24762000-24768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:24762000-24768000	Weak transcription	Right Ventricle	heart
26	chr14:24763800-24766000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:24763800-24766000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:24764000-24766000	Strong transcription	Colonic Mucosa	Colon
29	chr14:24764200-24766000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:24764400-24766000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:24764600-24766000	Strong transcription	Colon Smooth Muscle	Colon
32	chr14:24764600-24766000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:24764800-24766000	Strong transcription	Primary T cells from cord blood	blood
34	chr14:24764800-24766000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr14:24764800-24766000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr14:24764800-24766200	Strong transcription	Ovary	ovary
37	chr14:24764800-24766200	Strong transcription	Spleen	Spleen
38	chr14:24765000-24766000	Strong transcription	Fetal Lung	lung
39	chr14:24765000-24768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:24765200-24766000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:24765200-24766600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:24765400-24766000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:24765400-24766000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:24765400-24766200	Genic enhancers	Primary B cells from cord blood	blood
45	chr14:24765400-24766200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:24765400-24766200	Genic enhancers	NHEK	skin
47	chr14:24765400-24768000	Weak transcription	Brain Germinal Matrix	brain
48	chr14:24765400-24768200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:24765600-24766000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:24765600-24766000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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