Variant report

Variant	esv3408966
Chromosome Location	chr4:3571854-3576152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:3576042-3576167	HepG2	liver:	n/a	chr4:3576093-3576104
2	CHD2	chr4:3575147-3575242	HepG2	liver:	n/a	n/a
3	CTCF	chr4:3574160-3574310	K562	blood:	n/a	n/a
4	CTCF	chr4:3574320-3574470	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr4:3575913-3576104	K562	blood:	n/a	n/a
6	CTCF	chr4:3572162-3572183	Lung_OC	lung:	n/a	n/a
7	CTCF	chr4:3574237-3574423	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:3574280-3574430	AG09309	skin:	n/a	n/a
9	CTCF	chr4:3574271-3574364	MCF-7	breast:	n/a	n/a
10	CTCF	chr4:3575797-3575851	GM10248	blood:	n/a	n/a
11	CTCF	chr4:3575560-3575710	GM12872	blood:	n/a	n/a
12	CTCF	chr4:3574020-3574170	GM12871	blood:	n/a	n/a
13	CTCF	chr4:3574220-3574370	HAc	cerebellar:	n/a	n/a
14	CTCF	chr4:3574160-3574310	AG10803	skin:	n/a	n/a
15	CTCF	chr4:3574320-3574470	AG04449	skin:	n/a	n/a
16	CTCF	chr4:3574244-3574370	HepG2	liver:	n/a	n/a
17	CTCF	chr4:3574240-3574390	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr4:3574200-3574350	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:3574260-3574410	HCT-116	colon:	n/a	n/a
20	CTCF	chr4:3574340-3574490	BJ	skin:	n/a	n/a
21	CTCF	chr4:3574226-3574438	K562	blood:	n/a	n/a
22	CTCF	chr4:3574140-3574290	HEK293	kidney:	n/a	n/a
23	CTCF	chr4:3574296-3574344	GM12878	blood:	n/a	n/a
24	CTCF	chr4:3574260-3574410	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr4:3574220-3574370	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr4:3574260-3574410	K562	blood:	n/a	n/a
27	CTCF	chr4:3574280-3574430	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr4:3574240-3574390	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr4:3574280-3574430	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr4:3574240-3574390	HepG2	liver:	n/a	n/a
31	CTCF	chr4:3574186-3574425	K562	blood:	n/a	n/a
32	CTCF	chr4:3574296-3574353	LNCaP	prostate:	n/a	n/a
33	CTCF	chr4:3574200-3574350	HepG2	liver:	n/a	n/a
34	CTCF	chr4:3574173-3574378	HepG2	liver:	n/a	n/a
35	CTCF	chr4:3574280-3574430	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr4:3574354-3574358	LNCaP	prostate:	n/a	n/a
37	CTCF	chr4:3574140-3574290	A549	lung:	n/a	n/a
38	CTCF	chr4:3574220-3574370	BE2_C	brain:	n/a	n/a
39	CTCF	chr4:3574100-3574250	HFF	foreskin:	n/a	n/a
40	CTCF	chr4:3574123-3574508	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:3574240-3574390	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr4:3574154-3574493	HepG2	liver:	n/a	n/a
43	CTCF	chr4:3574279-3574389	K562	blood:	n/a	n/a
44	CTCF	chr4:3574121-3574490	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:3574117-3574473	K562	blood:	n/a	n/a
46	GABPA	chr4:3574140-3574500	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr4:3574530-3574582	NB4	blood:	n/a	chr4:3574566-3574573 chr4:3574565-3574574
48	MAX	chr4:3575279-3575782	K562	blood:	n/a	n/a
49	NR3C1	chr4:3575908-3576122	A549	lung:	n/a	n/a
50	RAD21	chr4:3574177-3574496	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3572794-3572844	HCM	heart:	n/a
2	chr4:3572794-3572844	IMR90	lung:	fetal
3	chr4:3571857-3571907	MCF-7	breast:	n/a
4	chr4:3572794-3572844	AoSMC	blood vessel:	n/a
5	chr4:3571919-3571969	GM06990	blood:	n/a
6	chr4:3571857-3571907	K562	blood:	n/a
7	chr4:3571919-3571969	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:3572794-3572844	GM12878	blood:	n/a
9	chr4:3571857-3571907	AG04449	skin:	fetal
10	chr4:3572794-3572844	CMK	blood:	n/a
11	chr4:3571857-3571907	GM12878	blood:	n/a
12	chr4:3571919-3571969	U87	brain:	n/a
13	chr4:3571919-3571969	ProgFib	skin:	n/a
14	chr4:3571857-3571907	HRPEpiC	eye:	n/a
15	chr4:3571919-3571969	HEEpiC	esophagus:	n/a
16	chr4:3571857-3571907	BE2_C	brain:	n/a
17	chr4:3571857-3571907	Jurkat	blood:	n/a
18	chr4:3572794-3572844	H1-hESC	embryonic stem cell:	embryo
19	chr4:3571857-3571907	HEK293	kidney:	embryo
20	chr4:3571919-3571969	AoSMC	blood vessel:	n/a
21	chr4:3571919-3571969	SK-N-SH	brain:	n/a
22	chr4:3572794-3572844	AG09319	gingival:	n/a
23	chr4:3571857-3571907	Hela-S3	cervix:	n/a
24	chr4:3572794-3572844	SK-N-SH_RA	brain:	n/a
25	chr4:3572794-3572844	NHBE	bronchial:	n/a
26	chr4:3571919-3571969	RPTEC	kidney:	n/a
27	chr4:3571857-3571907	NH-A	brain:	n/a
28	chr4:3571919-3571969	SKMC	muscle:	n/a
29	chr4:3572794-3572844	SKMC	muscle:	n/a
30	chr4:3572794-3572844	ProgFib	skin:	n/a
31	chr4:3572794-3572844	RPTEC	kidney:	n/a
32	chr4:3572794-3572844	LNCaP	prostate:	n/a
33	chr4:3572794-3572844	HL-60	blood:	n/a
34	chr4:3572794-3572844	AG04449	skin:	fetal
35	chr4:3571857-3571907	BJ	skin:	n/a
36	chr4:3571919-3571969	AG04450	lung:	fetal
37	chr4:3571857-3571907	GM12892	blood:	n/a
38	chr4:3572794-3572844	HCT-116	colon:	n/a
39	chr4:3572794-3572844	AG10803	skin:	n/a
40	chr4:3571857-3571907	ProgFib	skin:	n/a
41	chr4:3571857-3571907	U87	brain:	n/a
42	chr4:3571857-3571907	ECC-1	luminal epithelium:	n/a
43	chr4:3572794-3572844	HMEC	breast:	n/a
44	chr4:3571919-3571969	IMR90	lung:	fetal
45	chr4:3571857-3571907	HNPCEpiC	eye:	n/a
46	chr4:3571857-3571907	RPTEC	kidney:	n/a
47	chr4:3571919-3571969	Jurkat	blood:	n/a
48	chr4:3572794-3572844	BE2_C	brain:	n/a
49	chr4:3571919-3571969	HCPEpiC	choroid plexus:	n/a
50	chr4:3572794-3572844	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3532775..3535041-chr4:3574379..3576145,2	K562	blood:
2	chr4:3574894..3577613-chr4:3578076..3580368,2	K562	blood:
3	chr4:3573176..3575691-chr4:3650301..3652396,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00955	TF binding region
LINC00955	CpG island
ENSG00000163956	chromatin interactions
ENSG00000216560	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:352 , 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	rs562444615	chr4:3571857-3571858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200866810	chr4:3571859-3571860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527973935	chr4:3571905-3571906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201433834	chr4:3571906-3571907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35571101	chr4:3571917-3571918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199912020	chr4:3571922-3571923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541443893	chr4:3571935-3571936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1741561	chr4:3571936-3571937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369894956	chr4:3571939-3571940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533481113	chr4:3571961-3571962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185963031	chr4:3571981-3571982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192084494	chr4:3572030-3572031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181072533	chr4:3572033-3572034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373086177	chr4:3572044-3572045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113567046	chr4:3572058-3572059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570122049	chr4:3572059-3572060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531496630	chr4:3572062-3572063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548076127	chr4:3572071-3572072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1730800	chr4:3572087-3572088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533826446	chr4:3572091-3572092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553743517	chr4:3572108-3572109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181821997	chr4:3572125-3572126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186056578	chr4:3572159-3572160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555797479	chr4:3572182-3572183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575722253	chr4:3572195-3572196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536092983	chr4:3572201-3572202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57624889	chr4:3572229-3572230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140956840	chr4:3572270-3572271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572733299	chr4:3572274-3572275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142272482	chr4:3572293-3572294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71180202	chr4:3572295-3572296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541329892	chr4:3572305-3572306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4110466	chr4:3572312-3572313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12643800	chr4:3572339-3572340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4110465	chr4:3572344-3572345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578038679	chr4:3572358-3572359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190470940	chr4:3572360-3572361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12651553	chr4:3572373-3572374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529405705	chr4:3572460-3572461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548396181	chr4:3572475-3572476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4110464	chr4:3572484-3572485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561694797	chr4:3572486-3572487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182747387	chr4:3572494-3572495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547326425	chr4:3572504-3572505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572299364	chr4:3572510-3572511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58317230	chr4:3572511-3572512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539086369	chr4:3572540-3572541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200221443	chr4:3572544-3572545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549363214	chr4:3572560-3572561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71636724	chr4:3572578-3572579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3558800-3574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:3571800-3572000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3572000-3573000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3572800-3573600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:3573000-3573400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:3573000-3575600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:3573000-3580200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:3573800-3574200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr4:3573800-3574800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:3573800-3578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:3574000-3574400	ZNF genes & repeats	Spleen	Spleen
13	chr4:3574200-3574600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:3574200-3574800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
15	chr4:3574400-3574800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr4:3574600-3575200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:3575200-3576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:3575600-3575800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:3576000-3579600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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