Variant report

Variant	esv3468300
Chromosome Location	chr4:738302-742000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:741073..743262-chr4:744150..746174,2	K562	blood:
2	chr4:741180..743978-chr4:986881..988849,2	MCF-7	breast:
3	chr4:735917..738355-chr4:773628..776647,3	MCF-7	breast:
4	chr4:735724..738302-chr4:774438..777111,2	MCF-7	breast:
5	chr4:735427..738255-chr4:740119..742339,2	MCF-7	breast:
6	chr4:732543..739360-chr4:740100..745945,6	K562	blood:
7	chr4:678244..681266-chr4:735203..738855,3	MCF-7	breast:
8	chr4:741902..744115-chr4:754225..756300,2	MCF-7	breast:
9	chr4:736509..739809-chr4:741556..745067,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169026	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000249592	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539210745	chr4:738320-738321	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191725816	chr4:738337-738338	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375495419	chr4:738345-738346	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532750373	chr4:738381-738382	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183503213	chr4:738398-738399	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369600342	chr4:738400-738401	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542629478	chr4:738401-738402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554504819	chr4:738407-738408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573005305	chr4:738414-738415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561741012	chr4:738428-738429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201838189	chr4:738448-738449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370937234	chr4:738470-738471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200470763	chr4:738485-738486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564712615	chr4:738486-738487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565370844	chr4:738490-738491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6841958	chr4:738512-738513	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs12645284	chr4:738515-738516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113472699	chr4:738525-738526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529981847	chr4:738526-738527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568347237	chr4:738543-738544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35186579	chr4:738547-738548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373508822	chr4:738566-738567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13135340	chr4:738569-738570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569728133	chr4:738572-738573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529169194	chr4:738600-738601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373017733	chr4:738601-738602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12647726	chr4:738603-738604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34482619	chr4:738608-738609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537079229	chr4:738626-738627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35483187	chr4:738629-738630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566426310	chr4:738644-738645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527272361	chr4:738653-738654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547607528	chr4:738654-738655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199978633	chr4:738656-738657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565864281	chr4:738658-738659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201571336	chr4:738662-738663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374446916	chr4:738683-738684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552339671	chr4:738685-738686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570509284	chr4:738689-738690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538885333	chr4:738713-738714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113114099	chr4:738717-738718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373319845	chr4:738718-738719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13149701	chr4:738743-738744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538444414	chr4:738754-738755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10212878	chr4:738775-738776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6842189	chr4:738797-738798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75311044	chr4:738800-738801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557497511	chr4:738810-738811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs202021961	chr4:738850-738851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71614946	chr4:738855-738856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

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	chr4:720000-738400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:720800-738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:721000-738600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:721000-743600	Weak transcription	Right Atrium	heart
7	chr4:723600-738600	Strong transcription	Brain Germinal Matrix	brain
8	chr4:723800-738400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:724200-738600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:724200-738600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:725200-738400	Strong transcription	Thymus	Thymus
12	chr4:725200-738600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:725200-738600	Strong transcription	Fetal Stomach	stomach
14	chr4:725800-738400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:725800-738600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:726200-738400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:726200-738400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr4:726200-738600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:728000-741800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:729000-742400	Weak transcription	Small Intestine	intestine
24	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
25	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
27	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:729800-738400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:729800-741600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:732000-742400	Weak transcription	NHDF-Ad	bronchial
31	chr4:732000-745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:732200-741800	Weak transcription	K562	blood
33	chr4:732200-743600	Weak transcription	HMEC	breast
34	chr4:733400-738400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:733600-738400	Strong transcription	Fetal Intestine Small	intestine
36	chr4:733600-741600	Weak transcription	Brain Angular Gyrus	brain
37	chr4:733600-741600	Weak transcription	GM12878-XiMat	blood
38	chr4:733600-742600	Weak transcription	Stomach Mucosa	stomach
39	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:733800-747400	Weak transcription	Primary B cells from cord blood	blood
41	chr4:734000-741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:734000-744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:734000-745400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:734200-741800	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:734200-744800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:734400-741400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:734400-741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:734400-745400	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:734600-741800	Weak transcription	A549	lung
50	chr4:734800-741800	Weak transcription	Brain Substantia Nigra	brain

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