Variant report

Variant	esv3436583
Chromosome Location	chr4:1326477-1329325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1323033..1328941-chr4:1337055..1342245,8	MCF-7	breast:
2	chr4:1329044..1332482-chr4:1338415..1342297,5	K562	blood:
3	chr4:1324398..1326336-chr4:1326865..1328658,2	K562	blood:
4	chr4:1240130..1245020-chr4:1329018..1333862,6	MCF-7	breast:
5	chr4:1324398..1326619-chr4:1327158..1330979,3	K562	blood:
6	chr4:1322023..1323613-chr4:1328056..1329615,2	K562	blood:

Variant related genes	Relation type
ENSG00000090316	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs374077943	chr4:1326513-1326514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377151884	chr4:1326534-1326535	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369790535	chr4:1326536-1326537	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149155898	chr4:1326548-1326549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs202030047	chr4:1326590-1326591	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373443414	chr4:1326625-1326626	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146021165	chr4:1326629-1326630	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139609537	chr4:1326647-1326648	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376808968	chr4:1326660-1326661	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538751214	chr4:1326661-1326662	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201030783	chr4:1326664-1326665	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376195472	chr4:1326665-1326666	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370861972	chr4:1326684-1326685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575335871	chr4:1326688-1326689	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544105050	chr4:1326732-1326733	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185417059	chr4:1326742-1326743	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4974600	chr4:1326743-1326744	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541654466	chr4:1326744-1326745	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559694356	chr4:1326758-1326759	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113299638	chr4:1326809-1326810	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533424959	chr4:1326827-1326828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551473774	chr4:1326853-1326854	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577115236	chr4:1326906-1326907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149727499	chr4:1327068-1327069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113840820	chr4:1327129-1327130	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528789961	chr4:1327130-1327131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530849101	chr4:1327159-1327160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145561240	chr4:1327169-1327170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567597399	chr4:1327181-1327182	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531183523	chr4:1327188-1327189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534617610	chr4:1327190-1327191	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546736546	chr4:1327213-1327214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571371507	chr4:1327214-1327215	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552588678	chr4:1327238-1327239	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557124109	chr4:1327249-1327250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571087782	chr4:1327263-1327264	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74384658	chr4:1327264-1327265	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555778549	chr4:1327271-1327272	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574225090	chr4:1327292-1327293	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546558103	chr4:1327341-1327342	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541368912	chr4:1327454-1327455	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112232645	chr4:1327474-1327475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190767823	chr4:1327481-1327482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577836453	chr4:1327493-1327494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4298091	chr4:1327496-1327497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
46	rs528882532	chr4:1327503-1327504	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547253045	chr4:1327513-1327514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374528044	chr4:1327514-1327515	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535537076	chr4:1327518-1327519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562678902	chr4:1327557-1327558	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	20932292	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
5	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:1313600-1335600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:1314800-1328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:1314800-1335200	Strong transcription	Dnd41	blood
9	chr4:1315000-1335600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:1315200-1335400	Strong transcription	Fetal Brain Female	brain
11	chr4:1315200-1335600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:1315200-1335600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:1315200-1335600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:1315400-1328400	Strong transcription	Adipose Nuclei	Adipose
15	chr4:1315400-1329400	Strong transcription	Colonic Mucosa	Colon
16	chr4:1315400-1331800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:1315400-1332200	Strong transcription	Fetal Intestine Small	intestine
18	chr4:1315400-1335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:1315400-1335400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr4:1315400-1335400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr4:1315600-1328200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:1315600-1335400	Strong transcription	Brain Germinal Matrix	brain
23	chr4:1315600-1335600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:1315800-1331800	Strong transcription	Fetal Intestine Large	intestine
25	chr4:1315800-1333400	Strong transcription	Fetal Stomach	stomach
26	chr4:1315800-1335200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:1315800-1335400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:1315800-1335600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:1315800-1335600	Strong transcription	Liver	Liver
30	chr4:1317200-1333400	Strong transcription	Pancreas	Pancrea
31	chr4:1317800-1328200	Weak transcription	A549	lung
32	chr4:1317800-1329000	Strong transcription	Lung	lung
33	chr4:1317800-1339600	Weak transcription	Right Atrium	heart
34	chr4:1318000-1328200	Weak transcription	Hela-S3	cervix
35	chr4:1318000-1328600	Weak transcription	NHDF-Ad	bronchial
36	chr4:1318200-1326600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:1318200-1330200	Weak transcription	HUVEC	blood vessel
38	chr4:1318400-1328600	Weak transcription	Fetal Brain Male	brain
39	chr4:1318400-1328800	Weak transcription	Fetal Kidney	kidney
40	chr4:1319200-1330000	Strong transcription	NHLF	lung
41	chr4:1319400-1335600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:1319600-1330800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:1320400-1329200	Strong transcription	Left Ventricle	heart
44	chr4:1320600-1335600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:1321200-1330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:1321600-1328200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:1322000-1328400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:1322400-1328400	Weak transcription	Brain Angular Gyrus	brain
49	chr4:1322400-1328600	Weak transcription	NH-A	brain
50	chr4:1322400-1330200	Weak transcription	Primary hematopoietic stem cells	blood

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