Variant report

Variant	esv1002699
Chromosome Location	chr4:742779-747297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:744377..747557-chr4:749370..752035,4	K562	blood:
2	chr4:736509..739809-chr4:741556..745067,3	MCF-7	breast:
3	chr4:744377..748508-chr4:749329..752035,5	K562	blood:
4	chr4:745543..747300-chr4:747376..749196,2	K562	blood:
5	chr4:746072..748253-chr4:749893..752035,2	MCF-7	breast:
6	chr4:579661..581575-chr4:744162..745804,2	MCF-7	breast:
7	chr4:741073..743262-chr4:744150..746174,2	K562	blood:
8	chr4:741073..743262-chr4:744150..746174,2	K562	blood:
9	chr4:746706..749416-chr4:774128..775692,2	MCF-7	breast:
10	chr4:711689..713819-chr4:744477..746857,2	MCF-7	breast:
11	chr4:741180..743978-chr4:986881..988849,2	MCF-7	breast:
12	chr4:745534..748731-chr4:756775..761109,4	MCF-7	breast:
13	chr4:743968..746769-chr4:761390..763211,2	MCF-7	breast:
14	chr4:742395..744725-chr4:756951..759132,2	MCF-7	breast:
15	chr4:732543..739360-chr4:740100..745945,6	K562	blood:
16	chr4:745562..749408-chr4:752726..755779,3	MCF-7	breast:
17	chr4:741902..744115-chr4:754225..756300,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPLX1-11	chr4:744922-746968	ncRnaDb_ncrna_FR374492_1
2	lnc-MYL5-3	chr4:744880-745418	NONHSAT094608

No data

Variant related genes	Relation type
ENSG00000185619	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000272588	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000145217	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs540772790	chr4:742802-742803	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377506443	chr4:742844-742845	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs545743923	chr4:742881-742882	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375264882	chr4:742888-742889	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs78564282	chr4:742909-742910	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564820615	chr4:742938-742939	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531873197	chr4:742974-742975	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs528543890	chr4:743021-743022	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373040227	chr4:743055-743056	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568508127	chr4:743077-743078	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373936722	chr4:743116-743117	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7376403	chr4:743125-743126	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
13	rs529298300	chr4:743192-743193	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567157241	chr4:743227-743228	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373884109	chr4:743259-743260	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368001661	chr4:743263-743264	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372116872	chr4:743264-743265	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs149365277	chr4:743265-743266	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548415774	chr4:743295-743296	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs369878038	chr4:743303-743304	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs184339538	chr4:743304-743305	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551253483	chr4:743307-743308	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs188529129	chr4:743356-743357	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536898692	chr4:743367-743368	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs555237409	chr4:743380-743381	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs111386626	chr4:743406-743407	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs11728608	chr4:743459-743460	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs201250827	chr4:743464-743465	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7377200	chr4:743519-743520	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552675815	chr4:743520-743521	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs570414172	chr4:743548-743549	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs34340653	chr4:743587-743588	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs138970727	chr4:743644-743645	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113858975	chr4:743662-743663	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs4690192	chr4:743670-743671	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs576579076	chr4:743678-743679	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544170155	chr4:743683-743684	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs562354054	chr4:743756-743757	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs181323695	chr4:743780-743781	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs185018250	chr4:743794-743795	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs553028438	chr4:743807-743808	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs73221200	chr4:743826-743827	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs533228494	chr4:743842-743843	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs541977746	chr4:743875-743876	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373993307	chr4:743883-743884	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs557134274	chr4:743887-743888	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs551556455	chr4:743888-743889	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569796925	chr4:743905-743906	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs142112006	chr4:743906-743907	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189569141	chr4:743913-743914	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:721000-743600	Weak transcription	Right Atrium	heart
4	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
8	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
10	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:732000-745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:732200-743600	Weak transcription	HMEC	breast
13	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:733800-747400	Weak transcription	Primary B cells from cord blood	blood
15	chr4:734000-744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:734000-745400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:734200-744800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:734400-745400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:734800-744200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:734800-745600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:735000-743600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:735000-743800	Weak transcription	Colonic Mucosa	Colon
23	chr4:735200-745200	Weak transcription	Fetal Brain Male	brain
24	chr4:735200-745400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:736600-752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:738400-743600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:738400-743800	Weak transcription	Right Ventricle	heart
28	chr4:738400-744000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:738400-745400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:738400-745400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:741400-742800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:741400-743200	Strong transcription	Liver	Liver
33	chr4:741400-743800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:741400-744000	Strong transcription	Lung	lung
35	chr4:741400-744600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:741400-745000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:741400-749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:741400-749400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:741400-749400	Strong transcription	Thymus	Thymus
40	chr4:741400-749600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr4:741400-749600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:741400-751000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:741400-751400	Strong transcription	Fetal Brain Female	brain
44	chr4:741400-751800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:741400-752000	Strong transcription	Fetal Intestine Small	intestine
46	chr4:741400-752400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:741400-752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:741400-752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:741400-752800	Strong transcription	Fetal Thymus	thymus
50	chr4:741600-742800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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