Variant report

Variant	rs577299653
Chromosome Location	chr14:70233599-70233600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:441)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	ELF1	chr14:70233498-70234083	HepG2	liver:	n/a	chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
3	YY1	chr14:70233472-70234782	SK-N-SH_RA	brain:	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
4	TEAD4	chr14:70233502-70234875	K562	blood:	n/a	n/a
5	MAX	chr14:70233463-70234818	H1-hESC	embryonic stem cell:	n/a	chr14:70234517-70234527
6	EP300	chr14:70233547-70234099	T-47D	breast:	n/a	chr14:70233802-70233809
7	ETS1	chr14:70233500-70234399	GM12878	blood:	n/a	chr14:70233801-70233810 chr14:70233802-70233812 chr14:70233801-70233810
8	MYC	chr14:70233588-70234134	MCF-7	breast:	n/a	n/a
9	MYC	chr14:70233369-70234875	NB4	blood:	n/a	chr14:70234517-70234527
10	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
11	EBF1	chr14:70233406-70233986	GM12878	blood:	n/a	n/a
12	HNF4A	chr14:70233523-70234150	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr14:70233436-70234768	HCT-116	colon:	n/a	n/a
14	ZNF384	chr14:70233241-70234027	K562	blood:	n/a	n/a
15	CREB1	chr14:70233445-70234777	HepG2	liver:	n/a	n/a
16	ELK1	chr14:70233468-70234569	GM12878	blood:	n/a	n/a
17	TEAD4	chr14:70233521-70234640	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
19	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
20	SIX5	chr14:70233279-70234302	A549	lung:	n/a	n/a
21	CREB1	chr14:70233413-70234152	K562	blood:	n/a	n/a
22	NFIC	chr14:70233407-70234982	GM12878	blood:	n/a	n/a
23	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
24	TAF1	chr14:70233560-70234664	GM12892	blood:	n/a	n/a
25	TAF1	chr14:70233471-70234786	ECC-1	luminal epithelium:	n/a	n/a
26	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
27	POLR2A	chr14:70233440-70234807	GM12878	blood:	n/a	n/a
28	MBD4	chr14:70233419-70234519	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:70233421-70234987	GM19193	blood:	n/a	n/a
31	TAF1	chr14:70233459-70234681	H1-neurons	neurons:	n/a	n/a
32	TAF1	chr14:70233476-70234791	MCF-7	breast:	n/a	n/a
33	CEBPD	chr14:70233516-70234150	HepG2	liver:	n/a	n/a
34	TAF1	chr14:70233477-70234890	MCF-7	breast:	n/a	n/a
35	MAX	chr14:70233555-70234012	HepG2	liver:	n/a	n/a
36	HEY1	chr14:70233452-70234932	HepG2	liver:	n/a	n/a
37	ATF2	chr14:70233558-70234125	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:70233459-70234908	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr14:70233549-70233899	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr14:70233443-70234008	A549	lung:	n/a	chr14:70233950-70233957
41	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
42	SP1	chr14:70233489-70234078	GM12878	blood:	n/a	chr14:70233661-70233675 chr14:70233667-70233677
43	BRCA1	chr14:70233565-70234665	GM12878	blood:	n/a	n/a
44	GATA1	chr14:70233466-70235211	PBDE	blood:	n/a	n/a
45	ELF1	chr14:70233507-70234035	SK-N-SH	brain:	n/a	chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
46	EP300	chr14:70233495-70233984	HepG2	liver:	n/a	chr14:70233802-70233809
47	HEY1	chr14:70233437-70235979	K562	blood:	n/a	n/a
48	PAX5	chr14:70233565-70234039	GM12878	blood:	n/a	n/a
49	TEAD4	chr14:70233544-70234476	HepG2	liver:	n/a	n/a
50	RCOR1	chr14:70233296-70234854	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70233599-70233649	NHDF-neo	bronchial:	n/a
2	chr14:70233599-70233649	A549	lung:	n/a
3	chr14:70233599-70233649	SK-N-SH	brain:	n/a
4	chr14:70233599-70233649	HNPCEpiC	eye:	n/a
5	chr14:70233599-70233649	SAEC	small airway:	n/a
6	chr14:70233599-70233649	SK-N-MC	brain:	n/a
7	chr14:70233599-70233649	AoSMC	blood vessel:	n/a
8	chr14:70233599-70233649	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:70233599-70233649	CMK	blood:	n/a
10	chr14:70233599-70233649	K562	blood:	n/a
11	chr14:70233599-70233649	HL-60	blood:	n/a
12	chr14:70233599-70233649	AG09319	gingival:	n/a
13	chr14:70233599-70233649	SK-N-SH_RA	brain:	n/a
14	chr14:70233599-70233649	RPTEC	kidney:	n/a
15	chr14:70233599-70233649	LNCaP	prostate:	n/a
16	chr14:70233599-70233649	SKMC	muscle:	n/a
17	chr14:70233599-70233649	AG10803	skin:	n/a
18	chr14:70233599-70233649	HCT-116	colon:	n/a
19	chr14:70233599-70233649	AG04449	skin:	fetal
20	chr14:70233599-70233649	T-47D	breast:	n/a
21	chr14:70233599-70233649	NH-A	brain:	n/a
22	chr14:70233599-70233649	Jurkat	blood:	n/a
23	chr14:70233599-70233649	HCM	heart:	n/a
24	chr14:70233599-70233649	PFSK-1	brain:	n/a
25	chr14:70233599-70233649	GM12892	blood:	n/a
26	chr14:70233599-70233649	GM12891	blood:	n/a
27	chr14:70233599-70233649	AG09309	skin:	n/a
28	chr14:70233599-70233649	HIPEpiC	eye:	n/a
29	chr14:70233599-70233649	ovcar-3	ovarian:	n/a
30	chr14:70233599-70233649	HCF	heart:	n/a
31	chr14:70233599-70233649	NHBE	bronchial:	n/a
32	chr14:70233599-70233649	Caco-2	colon:	n/a
33	chr14:70233599-70233649	BE2_C	brain:	n/a
34	chr14:70233599-70233649	HEEpiC	esophagus:	n/a
35	chr14:70233599-70233649	H1-hESC	embryonic stem cell:	embryo
36	chr14:70233599-70233649	HAEpiC	amniotic membrane:	n/a
37	chr14:70233599-70233649	AG04450	lung:	fetal
38	chr14:70233599-70233649	NB4	blood:	n/a
39	chr14:70233599-70233649	ProgFib	skin:	n/a
40	chr14:70233599-70233649	HRE	kidney:	n/a
41	chr14:70233599-70233649	HCPEpiC	choroid plexus:	n/a
42	chr14:70233599-70233649	MCF-7	breast:	n/a
43	chr14:70233599-70233649	IMR90	lung:	fetal
44	chr14:70233599-70233649	GM12878	blood:	n/a
45	chr14:70233599-70233649	Hepatocyte	liver:	n/a
46	chr14:70233599-70233649	GM19239	blood:	n/a
47	chr14:70233599-70233649	GM06990	blood:	n/a
48	chr14:70233599-70233649	HRPEpiC	eye:	n/a
49	chr14:70233599-70233649	HMEC	breast:	n/a
50	chr14:70233599-70233649	Hela-S3	cervix:	n/a

(count:34 , 50 per page) page: 1

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	chr14:70233506..70234030-chr7:16685746..16686707,2	Hela-S3	cervix:
9	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
10	chr14:70233460..70234283-chr8:101322288..101322904,2	Hela-S3	cervix:
11	chr1:16840420..16841033-chr14:70233408..70233938,2	Hela-S3	cervix:
12	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
13	chr14:70233270..70234247-chr5:140044089..140044815,2	NB4	blood:
14	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
15	chr1:27319886..27320740-chr14:70233328..70234203,2	HCT-116	colon:
16	chr1:207494727..207495520-chr14:70232723..70233666,2	Hela-S3	cervix:
17	chr12:124457291..124457854-chr14:70233492..70234347,2	Hela-S3	cervix:
18	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
19	chr14:70233401..70234259-chr9:19380030..19380759,2	NB4	blood:
20	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
21	chr14:70233478..70234112-chr21:46237606..46238371,2	Hela-S3	cervix:
22	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
23	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
24	chr14:70077972..70078597-chr14:70233346..70233919,2	HCT-116	colon:
25	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
26	chr1:27022189..27022928-chr14:70233571..70234313,2	HCT-116	colon:
27	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
28	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
29	chr14:70233253..70234211-chr3:132440841..132441369,2	Hela-S3	cervix:
30	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
31	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
32	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
33	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
34	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
SRSF5	TF binding region
SRSF5	CpG island
ENSG00000136261	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000127914	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000262246	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000120314	Chromatin interaction
ENSG00000034677	Chromatin interaction
ENSG00000117713	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000253368	Chromatin interaction
ENSG00000128534	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000133997	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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