Variant report

Variant	rs72725730
Chromosome Location	chr14:70233433-70233434
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	TAF1	chr14:70233375-70234643	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr14:70233369-70234875	NB4	blood:	n/a	chr14:70234517-70234527
3	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
4	EBF1	chr14:70233406-70233986	GM12878	blood:	n/a	n/a
5	ZNF384	chr14:70233241-70234027	K562	blood:	n/a	n/a
6	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
7	ELF1	chr14:70233175-70234820	HCT-116	colon:	n/a	chr14:70234514-70234526 chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
8	SIX5	chr14:70233279-70234302	A549	lung:	n/a	n/a
9	CREB1	chr14:70233413-70234152	K562	blood:	n/a	n/a
10	NFIC	chr14:70233407-70234982	GM12878	blood:	n/a	n/a
11	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
12	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
13	MBD4	chr14:70233419-70234519	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:70233421-70234987	GM19193	blood:	n/a	n/a
16	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
17	RCOR1	chr14:70233296-70234854	GM12878	blood:	n/a	n/a
18	CREB1	chr14:70233402-70234781	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:70233158-70234924	Hela-S3	cervix:	n/a	n/a
20	ZBTB33	chr14:70233408-70234119	GM12878	blood:	n/a	n/a
21	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:70233423-70234783	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr14:70233224-70234993	K562	blood:	n/a	n/a
24	SP1	chr14:70233315-70234804	A549	lung:	n/a	chr14:70233661-70233675 chr14:70233667-70233677
25	TBL1XR1	chr14:70233333-70235272	GM12878	blood:	n/a	n/a
26	TBP	chr14:70233417-70234774	K562	blood:	n/a	n/a
27	YY1	chr14:70233428-70234746	H1-hESC	embryonic stem cell:	n/a	chr14:70234600-70234611 chr14:70233823-70233833 chr14:70234390-70234412 chr14:70234425-70234439 chr14:70234393-70234401 chr14:70234514-70234528 chr14:70234390-70234400 chr14:70234390-70234400 chr14:70233823-70233845
28	POLR2A	chr14:70233370-70234809	GM12892	blood:	n/a	n/a
29	MAX	chr14:70233208-70234966	MCF-7	breast:	n/a	chr14:70234517-70234527
30	E2F6	chr14:70233417-70234781	K562	blood:	n/a	chr14:70234432-70234441 chr14:70233950-70233957
31	PML	chr14:70233401-70234790	MCF-7	breast:	n/a	n/a
32	RFX5	chr14:70233376-70234634	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:70233202-70235953	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:70233418-70234830	HEK293	kidney:	n/a	n/a
35	UBTF	chr14:70233413-70234884	K562	blood:	n/a	n/a
36	POLR2A	chr14:70233339-70235861	GM12892	blood:	n/a	n/a
37	NFATC1	chr14:70233338-70234939	GM12878	blood:	n/a	n/a
38	RFX5	chr14:70233312-70234630	GM12878	blood:	n/a	n/a
39	IRF1	chr14:70233255-70234625	K562	blood:	n/a	n/a
40	POLR2A	chr14:70233373-70249048	K562	blood:	n/a	n/a
41	MAX	chr14:70233278-70234056	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr14:70233192-70234785	GM18951	blood:	n/a	n/a
43	MAX	chr14:70233433-70234798	A549	lung:	n/a	chr14:70234517-70234527
44	POLR2A	chr14:70233355-70236056	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:70233089-70236021	IMR90	lung:	n/a	n/a
46	MAX	chr14:70233314-70234862	A549	lung:	n/a	chr14:70234517-70234527
47	GABPA	chr14:70233097-70234841	MCF-7	breast:	n/a	chr14:70234431-70234445 chr14:70234531-70234540 chr14:70234431-70234442
48	MAX	chr14:70233227-70234769	NB4	blood:	n/a	chr14:70234517-70234527
49	POLR2A	chr14:70233329-70235191	GM12892	blood:	n/a	n/a
50	POLR2A	chr14:70233407-70234909	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149859447..149860157-chr14:70233392..70234268,2	Hela-S3	cervix:
2	chr14:70233418..70234082-chr7:117823597..117824354,2	Hela-S3	cervix:
3	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
4	chr14:70233420..70235715-chr14:70270936..70274519,3	MCF-7	breast:
5	chr14:70233425..70234321-chr16:4474694..4475687,2	Hela-S3	cervix:
6	chr14:70233225..70234196-chr7:91569475..91570354,2	NB4	blood:
7	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
8	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
9	chr1:16840420..16841033-chr14:70233408..70233938,2	Hela-S3	cervix:
10	chr14:70233270..70234247-chr5:140044089..140044815,2	NB4	blood:
11	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
12	chr1:27319886..27320740-chr14:70233328..70234203,2	HCT-116	colon:
13	chr1:207494727..207495520-chr14:70232723..70233666,2	Hela-S3	cervix:
14	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
15	chr14:70233401..70234259-chr9:19380030..19380759,2	NB4	blood:
16	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
17	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
18	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
19	chr14:70077972..70078597-chr14:70233346..70233919,2	HCT-116	colon:
20	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
21	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
22	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
23	chr14:70233253..70234211-chr3:132440841..132441369,2	Hela-S3	cervix:
24	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
25	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
26	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
27	chr14:70232711..70233593-chr17:8058943..8059803,2	Hela-S3	cervix:
28	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
29	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A1-1	chr14:70233000-70234430	NONHSAT037537

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000128534	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000179094	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000127914	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000120314	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000253368	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000262246	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000188229	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3425903	chr14:70232649-70235147	Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70232600-70233800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:70232800-70233600	Flanking Active TSS	Dnd41	blood
5	chr14:70232800-70233800	Weak transcription	Spleen	Spleen
6	chr14:70233000-70233600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:70233000-70233600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:70233000-70233600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:70233000-70233600	Flanking Active TSS	Liver	Liver
10	chr14:70233000-70233600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr14:70233000-70233600	Flanking Active TSS	Hela-S3	cervix
12	chr14:70233000-70233800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:70233000-70234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70233000-70234600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70233000-70234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:70233000-70234800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:70233000-70234800	Active TSS	Brain Anterior Caudate	brain
21	chr14:70233000-70234800	Active TSS	Brain Hippocampus Middle	brain
22	chr14:70233000-70234800	Active TSS	GM12878-XiMat	blood
23	chr14:70233000-70234800	Active TSS	HSMM	muscle
24	chr14:70233000-70235000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:70233000-70235000	Active TSS	Colonic Mucosa	Colon
26	chr14:70233000-70235000	Active TSS	HSMMtube	muscle
27	chr14:70233200-70233600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:70233200-70233600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:70233200-70233600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr14:70233200-70233600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr14:70233200-70233600	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr14:70233200-70233600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:70233200-70233600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:70233200-70233600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr14:70233200-70233600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr14:70233200-70233600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:70233200-70233600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr14:70233200-70233600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:70233200-70233600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr14:70233200-70233600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:70233200-70233600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr14:70233200-70233600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:70233200-70233600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:70233200-70233600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr14:70233200-70233600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr14:70233200-70233600	Flanking Active TSS	Fetal Brain Female	brain
47	chr14:70233200-70233600	Flanking Active TSS	Fetal Heart	heart
48	chr14:70233200-70233600	Flanking Active TSS	Fetal Kidney	kidney
49	chr14:70233200-70233600	Flanking Active TSS	Fetal Lung	lung
50	chr14:70233200-70233600	Flanking Active TSS	Fetal Muscle Leg	muscle

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