Variant report

Variant	esv3384183
Chromosome Location	chr14:20647423-20665695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:20653018-20653080	K562	blood:	n/a	n/a
2	CEBPB	chr14:20659063-20659394	HepG2	liver:	n/a	chr14:20659228-20659241 chr14:20659229-20659240 chr14:20659227-20659244
3	CEBPB	chr14:20659170-20659372	K562	blood:	n/a	chr14:20659228-20659241 chr14:20659229-20659240 chr14:20659227-20659244
4	CEBPB	chr14:20652454-20652480	HepG2	liver:	n/a	n/a
5	CHD2	chr14:20662444-20662449	GM12878	blood:	n/a	n/a
6	CTCF	chr14:20664173-20664381	LNCaP	prostate:	n/a	n/a
7	CTCF	chr14:20663911-20664541	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr14:20664184-20664356	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr14:20664220-20664370	HepG2	liver:	n/a	n/a
10	CTCF	chr14:20664160-20664310	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:20664241-20664344	ProgFib	skin:	n/a	n/a
12	CTCF	chr14:20664209-20664369	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:20664200-20664350	HCFaa	heart:	n/a	n/a
14	CTCF	chr14:20664182-20664339	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr14:20664300-20664450	HCT-116	colon:	n/a	n/a
16	CTCF	chr14:20664119-20664447	GM12878	blood:	n/a	n/a
17	CTCF	chr14:20664194-20664358	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:20664160-20664310	HPF	lung:	n/a	n/a
19	CTCF	chr14:20664200-20664350	GM12864	blood:	n/a	n/a
20	CTCF	chr14:20664180-20664330	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr14:20664160-20664310	HL-60	blood:	n/a	n/a
22	CTCF	chr14:20664220-20664370	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:20658599-20658709	K562	blood:	n/a	n/a
24	CTCF	chr14:20664001-20664467	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:20664180-20664330	K562	blood:	n/a	n/a
26	CTCF	chr14:20664080-20664230	HCT-116	colon:	n/a	n/a
27	CTCF	chr14:20664280-20664430	BE2_C	brain:	n/a	n/a
28	CTCF	chr14:20664220-20664370	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr14:20664180-20664330	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr14:20664232-20664277	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr14:20664260-20664410	K562	blood:	n/a	n/a
32	CTCF	chr14:20664078-20664471	K562	blood:	n/a	n/a
33	CTCF	chr14:20664177-20664360	LNCaP	prostate:	n/a	n/a
34	CTCF	chr14:20658580-20658730	NB4	blood:	n/a	n/a
35	CTCF	chr14:20664169-20664172	LNCaP	prostate:	n/a	n/a
36	CTCF	chr14:20664148-20664387	K562	blood:	n/a	n/a
37	CTCF	chr14:20664260-20664410	BE2_C	brain:	n/a	n/a
38	CTCF	chr14:20664140-20664290	HMEC	breast:	n/a	n/a
39	CTCF	chr14:20664180-20664330	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:20664213-20664339	HepG2	liver:	n/a	n/a
41	CTCF	chr14:20664200-20664350	NB4	blood:	n/a	n/a
42	CTCF	chr14:20658542-20658731	K562	blood:	n/a	n/a
43	CTCF	chr14:20664300-20664450	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr14:20664120-20664270	HepG2	liver:	n/a	n/a
45	CTCF	chr14:20664160-20664310	MCF-7	breast:	n/a	n/a
46	CTCF	chr14:20664200-20664350	GM12873	blood:	n/a	n/a
47	CTCF	chr14:20664192-20664359	HepG2	liver:	n/a	n/a
48	CTCF	chr14:20664206-20664358	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr14:20664248-20664331	Fibrobl	skin:	n/a	n/a
50	CTCF	chr14:20664200-20664350	GM12865	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20664580-20664630	AoSMC	blood vessel:	n/a
2	chr14:20664580-20664630	HUVEC	blood vessel:	n/a
3	chr14:20664580-20664630	K562	blood:	n/a
4	chr14:20664580-20664630	HPAEpiC	pulmonary alveolar:	n/a
5	chr14:20664021-20664071	NB4	blood:	n/a
6	chr14:20664021-20664071	HCM	heart:	n/a
7	chr14:20664021-20664071	AG10803	skin:	n/a
8	chr14:20664580-20664630	T-47D	breast:	n/a
9	chr14:20664021-20664071	GM12878	blood:	n/a
10	chr14:20664021-20664071	Hepatocyte	liver:	n/a
11	chr14:20664580-20664630	CMK	blood:	n/a
12	chr14:20664580-20664630	SK-N-SH	brain:	n/a
13	chr14:20664580-20664630	ECC-1	luminal epithelium:	n/a
14	chr14:20664580-20664630	HEK293	kidney:	embryo
15	chr14:20664021-20664071	ECC-1	luminal epithelium:	n/a
16	chr14:20664021-20664071	HL-60	blood:	n/a
17	chr14:20664580-20664630	IMR90	lung:	fetal
18	chr14:20664021-20664071	BE2_C	brain:	n/a
19	chr14:20664580-20664630	MCF-7	breast:	n/a
20	chr14:20664580-20664630	HAEpiC	amniotic membrane:	n/a
21	chr14:20664580-20664630	NHBE	bronchial:	n/a
22	chr14:20664021-20664071	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:20664021-20664071	SK-N-MC	brain:	n/a
24	chr14:20664580-20664630	PrEC	prostate:	n/a
25	chr14:20664580-20664630	GM06990	blood:	n/a
26	chr14:20664580-20664630	SAEC	small airway:	n/a
27	chr14:20664021-20664071	GM12892	blood:	n/a
28	chr14:20664580-20664630	HepG2	liver:	n/a
29	chr14:20664021-20664071	AG09319	gingival:	n/a
30	chr14:20664580-20664630	BJ	skin:	n/a
31	chr14:20664021-20664071	HNPCEpiC	eye:	n/a
32	chr14:20664021-20664071	HRE	kidney:	n/a
33	chr14:20664021-20664071	HCPEpiC	choroid plexus:	n/a
34	chr14:20664580-20664630	HCF	heart:	n/a
35	chr14:20664021-20664071	Caco-2	colon:	n/a
36	chr14:20664580-20664630	SK-N-MC	brain:	n/a
37	chr14:20664021-20664071	AoSMC	blood vessel:	n/a
38	chr14:20664021-20664071	MCF10A-Er-Src	breast:	n/a
39	chr14:20664580-20664630	HRE	kidney:	n/a
40	chr14:20664021-20664071	NT2-D1	testis:	n/a
41	chr14:20664021-20664071	HepG2	liver:	n/a
42	chr14:20664580-20664630	AG09309	skin:	n/a
43	chr14:20664580-20664630	NT2-D1	testis:	n/a
44	chr14:20664580-20664630	HMEC	breast:	n/a
45	chr14:20664580-20664630	U87	brain:	n/a
46	chr14:20664580-20664630	AG04450	lung:	fetal
47	chr14:20664021-20664071	HMEC	breast:	n/a
48	chr14:20664580-20664630	HNPCEpiC	eye:	n/a
49	chr14:20664580-20664630	AG09319	gingival:	n/a
50	chr14:20664021-20664071	AG04449	skin:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
2	chr14:20653650..20655621-chr14:20656798..20658985,2	K562	blood:
3	chr14:20645666..20648683-chr14:20649468..20653312,5	K562	blood:
4	chr14:20583619..20586533-chr14:20649310..20650931,2	K562	blood:
5	chr14:20649377..20653239-chr14:20653513..20656414,3	K562	blood:
6	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
7	chr14:20645875..20648132-chr14:20651152..20653312,3	K562	blood:
8	chr14:20653650..20655621-chr14:20656798..20658985,2	K562	blood:
9	chr14:20653449..20656373-chr14:20661305..20663533,2	MCF-7	breast:
10	chr14:20653449..20656373-chr14:20661305..20663533,2	MCF-7	breast:
11	chr14:20649377..20653239-chr14:20653513..20656414,3	K562	blood:

No data

Variant related genes	Relation type
OR11G2	TF binding region
OR11G2	CpG island
ENSG00000258468	chromatin interactions
ENSG00000176230	chromatin interactions

Extended variants
information (count: 370 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557376423	chr14:20647440-20647441	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575657670	chr14:20647445-20647446	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371941073	chr14:20647461-20647462	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560941449	chr14:20647473-20647474	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563389817	chr14:20647474-20647475	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572928720	chr14:20647517-20647518	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187321511	chr14:20647529-20647530	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564849764	chr14:20647556-20647557	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530898698	chr14:20647586-20647587	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376926795	chr14:20647604-20647605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531478482	chr14:20647622-20647623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562745268	chr14:20647631-20647632	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142453294	chr14:20647632-20647633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548294458	chr14:20647636-20647637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566462713	chr14:20647642-20647643	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12890531	chr14:20647690-20647691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547289534	chr14:20647702-20647703	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571975614	chr14:20647790-20647791	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570837031	chr14:20647805-20647806	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557259888	chr14:20647816-20647817	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542813042	chr14:20647842-20647843	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569479364	chr14:20647889-20647890	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536325046	chr14:20647913-20647914	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1188540	chr14:20647920-20647921	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1188541	chr14:20647955-20647956	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190233050	chr14:20647965-20647966	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558383789	chr14:20647983-20647984	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148550192	chr14:20648036-20648037	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544543857	chr14:20648039-20648040	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142925850	chr14:20648047-20648048	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151109508	chr14:20648050-20648051	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541915226	chr14:20648057-20648058	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560314853	chr14:20648124-20648125	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59636197	chr14:20648149-20648150	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141004846	chr14:20648159-20648160	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144952784	chr14:20648171-20648172	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147875091	chr14:20648265-20648266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373913987	chr14:20648267-20648268	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs36034491	chr14:20648292-20648293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551282708	chr14:20648376-20648377	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141584431	chr14:20648474-20648475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376150401	chr14:20648510-20648511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150512047	chr14:20648556-20648557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374072105	chr14:20648558-20648559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554615391	chr14:20648578-20648579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566628229	chr14:20648587-20648588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547393944	chr14:20648616-20648617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565605358	chr14:20648699-20648700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558525471	chr14:20648701-20648702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577197181	chr14:20648702-20648703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20646000-20648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:20646000-20649000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:20646400-20648400	Enhancers	K562	blood
4	chr14:20647000-20647800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:20647400-20647600	ZNF genes & repeats	Pancreas	Pancrea
6	chr14:20647400-20648200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:20647400-20648400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr14:20647600-20648200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:20647600-20650400	Weak transcription	Pancreas	Pancrea
10	chr14:20647800-20648200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr14:20648000-20648400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:20648200-20649800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:20648400-20648800	Weak transcription	K562	blood
14	chr14:20648400-20648800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr14:20648800-20649000	Enhancers	K562	blood
16	chr14:20648800-20649200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:20649000-20650400	Weak transcription	K562	blood
18	chr14:20649200-20649600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:20650000-20650400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:20650400-20651000	Enhancers	K562	blood
21	chr14:20651000-20652400	Weak transcription	K562	blood
22	chr14:20652400-20653200	Enhancers	K562	blood
23	chr14:20663200-20664600	Enhancers	K562	blood
24	chr14:20664200-20666400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr14:20665600-20666400	Enhancers	Primary monocytes fromperipheralblood	blood

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