Variant report

Variant	esv3358517
Chromosome Location	chr4:3631604-3634302
allele	n/a
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	BRCA1	chr4:3632378-3632408	HepG2	liver:	n/a	n/a
2	E2F6	chr4:3632546-3632710	K562	blood:	n/a	n/a
3	EGR1	chr4:3633533-3634208	MCF-7	breast:	n/a	chr4:3633835-3633844 chr4:3633835-3633846 chr4:3633829-3633851 chr4:3633835-3633845 chr4:3633834-3633847 chr4:3633834-3633847 chr4:3633836-3633845 chr4:3633833-3633847 chr4:3633835-3633845
4	EGR1	chr4:3633649-3633963	K562	blood:	n/a	chr4:3633835-3633844 chr4:3633835-3633846 chr4:3633829-3633851 chr4:3633835-3633845 chr4:3633834-3633847 chr4:3633834-3633847 chr4:3633836-3633845 chr4:3633833-3633847 chr4:3633835-3633845
5	EGR1	chr4:3633624-3633961	K562	blood:	n/a	chr4:3633835-3633844 chr4:3633835-3633846 chr4:3633829-3633851 chr4:3633835-3633845 chr4:3633834-3633847 chr4:3633834-3633847 chr4:3633836-3633845 chr4:3633833-3633847 chr4:3633835-3633845
6	EGR1	chr4:3633569-3634105	MCF-7	breast:	n/a	chr4:3633835-3633844 chr4:3633835-3633846 chr4:3633829-3633851 chr4:3633835-3633845 chr4:3633834-3633847 chr4:3633834-3633847 chr4:3633836-3633845 chr4:3633833-3633847 chr4:3633835-3633845
7	ELF1	chr4:3632541-3632762	K562	blood:	n/a	chr4:3632694-3632703 chr4:3632693-3632704 chr4:3632583-3632595 chr4:3632693-3632704 chr4:3632677-3632689
8	HMGN3	chr4:3631471-3631611	K562	blood:	n/a	n/a
9	MAX	chr4:3632370-3632814	H1-hESC	embryonic stem cell:	n/a	chr4:3632794-3632804 chr4:3632617-3632626
10	MAX	chr4:3632335-3632797	ECC-1	luminal epithelium:	n/a	chr4:3632617-3632626
11	MAX	chr4:3632489-3632652	K562	blood:	n/a	chr4:3632617-3632626
12	MAX	chr4:3632409-3632737	H1-hESC	embryonic stem cell:	n/a	chr4:3632617-3632626
13	MAX	chr4:3632456-3632710	K562	blood:	n/a	chr4:3632617-3632626
14	MAX	chr4:3633524-3633828	K562	blood:	n/a	n/a
15	MAX	chr4:3632631-3632636	Hela-S3	cervix:	n/a	n/a
16	MAX	chr4:3633659-3633849	HepG2	liver:	n/a	n/a
17	MAZ	chr4:3633975-3634019	HepG2	liver:	n/a	n/a
18	MYC	chr4:3632555-3632643	K562	blood:	n/a	chr4:3632617-3632626
19	MYC	chr4:3632335-3632705	NB4	blood:	n/a	chr4:3632617-3632626
20	MYC	chr4:3632612-3632630	HepG2	liver:	n/a	chr4:3632617-3632626
21	MYC	chr4:3633666-3633669	MCF-7	breast:	n/a	n/a
22	MYC	chr4:3632609-3632611	HepG2	liver:	n/a	n/a
23	MYC	chr4:3633673-3633693	MCF-7	breast:	n/a	n/a
24	NR2F2	chr4:3633582-3634101	MCF-7	breast:	n/a	n/a
25	NR2F2	chr4:3633520-3634160	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:3632379-3632421	K562	blood:	n/a	n/a
27	POLR2A	chr4:3628390-3632830	K562	blood:	n/a	n/a
28	POLR2A	chr4:3633079-3633431	K562	blood:	n/a	n/a
29	RCOR1	chr4:3632403-3632469	HepG2	liver:	n/a	n/a
30	TCF7L2	chr4:3633638-3634063	MCF-7	breast:	n/a	n/a
31	ZNF143	chr4:3632462-3632513	Hela-S3	cervix:	n/a	n/a
32	ZNF263	chr4:3631914-3632204	HEK293-T-REx	kidney:	n/a	chr4:3631930-3631939
33	ZNF263	chr4:3633979-3634238	HEK293-T-REx	kidney:	n/a	chr4:3634017-3634038 chr4:3634111-3634120

No.	Distal block	Cell Line	Cell type
1	chr4:3631211..3633906-chr4:3645708..3648279,2	K562	blood:
2	chr4:3630276..3631981-chr4:3635694..3637377,2	MCF-7	breast:
3	chr4:3485102..3487339-chr4:3632605..3634535,2	MCF-7	breast:
4	chr4:3632753..3634488-chr4:3637791..3640162,2	MCF-7	breast:
5	chr4:3629740..3632595-chr4:3633115..3635534,2	K562	blood:
6	chr4:3614332..3616102-chr4:3632475..3634431,2	MCF-7	breast:
7	chr4:3623095..3627093-chr4:3627798..3631774,5	K562	blood:

Variant related genes	Relation type
ENSG00000250681	TF binding region
ENSG00000175920	chromatin interactions
ENSG00000250681	chromatin interactions

Extended variants
information (count: 244 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67470458	chr4:3631608-3631609	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34878766	chr4:3631635-3631636	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114012976	chr4:3631654-3631655	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554657018	chr4:3631671-3631672	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73206759	chr4:3631674-3631675	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs66533948	chr4:3631680-3631681	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568260220	chr4:3631682-3631683	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146720753	chr4:3631709-3631710	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs66502264	chr4:3631721-3631722	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552756903	chr4:3631740-3631741	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572665009	chr4:3631744-3631745	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78750397	chr4:3631745-3631746	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386670755	chr4:3631751-3631752	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74957720	chr4:3631753-3631754	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544922466	chr4:3631763-3631764	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181639889	chr4:3631775-3631776	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73794066	chr4:3631779-3631780	ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575436158	chr4:3631810-3631811	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544238881	chr4:3631841-3631842	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79548166	chr4:3631852-3631853	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560721577	chr4:3631874-3631875	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529819531	chr4:3631887-3631888	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67423153	chr4:3631893-3631894	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540291132	chr4:3631894-3631895	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560684498	chr4:3631901-3631902	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532725140	chr4:3631932-3631933	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144147060	chr4:3631947-3631948	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111866656	chr4:3631958-3631959	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186367076	chr4:3631965-3631966	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190145375	chr4:3631972-3631973	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548565629	chr4:3631986-3631987	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs66590047	chr4:3632001-3632002	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139791964	chr4:3632016-3632017	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386670756	chr4:3632017-3632018	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78049235	chr4:3632018-3632019	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375073739	chr4:3632020-3632021	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34279343	chr4:3632021-3632022	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367953091	chr4:3632029-3632030	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568071574	chr4:3632037-3632038	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77684073	chr4:3632040-3632041	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55732131	chr4:3632047-3632048	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs55938790	chr4:3632048-3632049	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199590586	chr4:3632050-3632051	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78226352	chr4:3632051-3632052	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73206760	chr4:3632065-3632066	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75781418	chr4:3632066-3632067	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs67153769	chr4:3632091-3632092	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34795837	chr4:3632104-3632105	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs67084669	chr4:3632120-3632121	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74914628	chr4:3632122-3632123	Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3627000-3632000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:3629400-3635800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:3630000-3631800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr4:3630200-3631800	Weak transcription	Brain Anterior Caudate	brain
5	chr4:3631200-3634800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:3631800-3633800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:3632000-3632200	Enhancers	Brain Anterior Caudate	brain
8	chr4:3632000-3632800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3632200-3632400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:3632200-3632400	Bivalent Enhancer	Placenta	Placenta
11	chr4:3632200-3635800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr4:3632400-3632600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:3632400-3632600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr4:3632400-3632600	Bivalent Enhancer	HepG2	liver
15	chr4:3632400-3633200	Enhancers	Fetal Intestine Large	intestine
16	chr4:3632600-3633000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3632600-3633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:3632600-3635800	ZNF genes & repeats	Fetal Stomach	stomach
19	chr4:3632800-3633000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:3633000-3633800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr4:3633000-3633800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr4:3633000-3633800	Bivalent Enhancer	Placenta	Placenta
23	chr4:3633000-3633800	Bivalent Enhancer	HepG2	liver
24	chr4:3633000-3634200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:3633000-3634200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:3633000-3636400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:3633200-3634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:3633200-3634200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:3633200-3634800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr4:3633400-3633600	Bivalent Enhancer	Osteobl	bone
31	chr4:3633400-3633800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:3633400-3634000	Enhancers	Fetal Kidney	kidney
33	chr4:3633400-3634200	Enhancers	HSMM	muscle
34	chr4:3633400-3634200	Enhancers	HSMMtube	muscle
35	chr4:3633600-3633800	Flanking Active TSS	Osteobl	bone
36	chr4:3633800-3634200	Enhancers	Osteobl	bone
37	chr4:3634000-3640000	Weak transcription	Fetal Kidney	kidney

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