Variant report

Variant	esv3340143
Chromosome Location	chr4:1377502-1380300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:366)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:1379849-1379944	A549	lung:	n/a	n/a
2	CEBPB	chr4:1379755-1380036	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:1379799-1379970	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:1379503-1379519	K562	blood:	n/a	n/a
5	POLR2A	chr4:1377926-1377971	K562	blood:	n/a	n/a
6	POLR2A	chr4:1379408-1379441	K562	blood:	n/a	n/a
7	POLR2A	chr4:1379303-1379335	K562	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1379968-1380018	AG04450	lung:	fetal
2	chr4:1379968-1380018	HAEpiC	amniotic membrane:	n/a
3	chr4:1380019-1380069	NH-A	brain:	n/a
4	chr4:1379690-1379740	CMK	blood:	n/a
5	chr4:1379690-1379740	BJ	skin:	n/a
6	chr4:1380019-1380069	HCT-116	colon:	n/a
7	chr4:1379953-1380003	AG10803	skin:	n/a
8	chr4:1379448-1379498	T-47D	breast:	n/a
9	chr4:1379968-1380018	HCPEpiC	choroid plexus:	n/a
10	chr4:1379968-1380018	HRCEpiC	kidney:	n/a
11	chr4:1379493-1379543	PFSK-1	brain:	n/a
12	chr4:1379690-1379740	HIPEpiC	eye:	n/a
13	chr4:1379493-1379543	SK-N-SH	brain:	n/a
14	chr4:1379953-1380003	GM12892	blood:	n/a
15	chr4:1379448-1379498	AG04449	skin:	fetal
16	chr4:1379493-1379543	SK-N-SH_RA	brain:	n/a
17	chr4:1379493-1379543	HEEpiC	esophagus:	n/a
18	chr4:1380019-1380069	GM12892	blood:	n/a
19	chr4:1379448-1379498	HCM	heart:	n/a
20	chr4:1380019-1380069	BE2_C	brain:	n/a
21	chr4:1379953-1380003	GM19239	blood:	n/a
22	chr4:1380019-1380069	A549	lung:	n/a
23	chr4:1379448-1379498	AG09319	gingival:	n/a
24	chr4:1379968-1380018	HRPEpiC	eye:	n/a
25	chr4:1379690-1379740	GM12878	blood:	n/a
26	chr4:1379493-1379543	HRPEpiC	eye:	n/a
27	chr4:1380019-1380069	HMEC	breast:	n/a
28	chr4:1379493-1379543	GM12878	blood:	n/a
29	chr4:1379690-1379740	IMR90	lung:	fetal
30	chr4:1379493-1379543	NHDF-neo	bronchial:	n/a
31	chr4:1379448-1379498	HMEC	breast:	n/a
32	chr4:1379968-1380018	MCF10A-Er-Src	breast:	n/a
33	chr4:1379968-1380018	H1-hESC	embryonic stem cell:	embryo
34	chr4:1380019-1380069	AG09309	skin:	n/a
35	chr4:1379690-1379740	SKMC	muscle:	n/a
36	chr4:1379953-1380003	RPTEC	kidney:	n/a
37	chr4:1379953-1380003	HepG2	liver:	n/a
38	chr4:1379448-1379498	SK-N-SH_RA	brain:	n/a
39	chr4:1380019-1380069	AG10803	skin:	n/a
40	chr4:1379690-1379740	SK-N-SH_RA	brain:	n/a
41	chr4:1379493-1379543	AG04449	skin:	fetal
42	chr4:1379968-1380018	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:1379953-1380003	SK-N-SH	brain:	n/a
44	chr4:1379690-1379740	AG10803	skin:	n/a
45	chr4:1379448-1379498	Caco-2	colon:	n/a
46	chr4:1379448-1379498	GM12892	blood:	n/a
47	chr4:1379493-1379543	HIPEpiC	eye:	n/a
48	chr4:1379493-1379543	NB4	blood:	n/a
49	chr4:1379690-1379740	T-47D	breast:	n/a
50	chr4:1379448-1379498	ProgFib	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1368644..1370846-chr4:1376211..1378723,2	K562	blood:
2	chr4:1380212..1382011-chr4:1405775..1407996,2	K562	blood:
3	chr4:1369815..1371793-chr4:1377667..1379857,2	MCF-7	breast:
4	chr4:1377040..1378598-chr4:1379053..1381982,2	K562	blood:
5	chr4:1377040..1378598-chr4:1379053..1381982,2	K562	blood:
6	chr4:1368307..1371645-chr4:1376211..1379651,3	K562	blood:
7	chr4:1344357..1347255-chr4:1376077..1377590,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIPAK-2	chr4:1379656-1379697	NONHSAT094705
2	lnc-CRIPAK-2	chr4:1378600-1379227	NONHSAT094705

No data

Variant related genes	Relation type
UVSSA	TF binding region
UVSSA	CpG island
ENSG00000163945	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs202182274	chr4:1377507-1377508	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530395535	chr4:1377521-1377522	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372308335	chr4:1377559-1377560	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376594165	chr4:1377568-1377569	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140839981	chr4:1377583-1377584	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9996817	chr4:1377615-1377616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs201318732	chr4:1377625-1377626	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138454833	chr4:1377627-1377628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200802210	chr4:1377641-1377642	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146112543	chr4:1377648-1377649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372810026	chr4:1377662-1377663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548017135	chr4:1377678-1377679	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148359793	chr4:1377679-1377680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141457671	chr4:1377699-1377700	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150863986	chr4:1377700-1377701	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372587885	chr4:1377703-1377704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368990503	chr4:1377707-1377708	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199557939	chr4:1377723-1377724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139310992	chr4:1377724-1377725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570088599	chr4:1377732-1377733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372261594	chr4:1377750-1377751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374650368	chr4:1377758-1377759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111512018	chr4:1377759-1377760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555374382	chr4:1377760-1377761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573923437	chr4:1377765-1377766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534601811	chr4:1377769-1377770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552781225	chr4:1377771-1377772	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577393883	chr4:1377838-1377839	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544725146	chr4:1377871-1377872	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9683830	chr4:1377873-1377874	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs575140130	chr4:1377883-1377884	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542563895	chr4:1377896-1377897	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541998340	chr4:1377918-1377919	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541625613	chr4:1377935-1377936	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560719829	chr4:1377940-1377941	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529633128	chr4:1377941-1377942	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111688300	chr4:1377942-1377943	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530341211	chr4:1377965-1377966	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533541020	chr4:1377974-1377975	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551923192	chr4:1377980-1377981	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570126217	chr4:1377983-1377984	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141210940	chr4:1378049-1378050	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150737579	chr4:1378067-1378068	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs137924342	chr4:1378090-1378091	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115584362	chr4:1378091-1378092	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548160389	chr4:1378103-1378104	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11727578	chr4:1378104-1378105	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs374439042	chr4:1378136-1378137	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538404499	chr4:1378137-1378138	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368535385	chr4:1378155-1378156	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1341800-1387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:1341800-1388800	Weak transcription	Small Intestine	intestine
3	chr4:1342200-1382600	Weak transcription	Primary B cells from cord blood	blood
4	chr4:1342400-1379800	Weak transcription	A549	lung
5	chr4:1342600-1385600	Weak transcription	Fetal Kidney	kidney
6	chr4:1342800-1379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:1342800-1381200	Strong transcription	Fetal Intestine Small	intestine
8	chr4:1343400-1381200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:1346000-1386600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:1346000-1389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:1352600-1382000	Weak transcription	Fetal Brain Male	brain
12	chr4:1353400-1382000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:1353600-1379600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:1353600-1382200	Weak transcription	Osteobl	bone
15	chr4:1353800-1380000	Weak transcription	GM12878-XiMat	blood
16	chr4:1355400-1380800	Strong transcription	Fetal Stomach	stomach
17	chr4:1358600-1381200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:1358800-1379400	Strong transcription	Spleen	Spleen
19	chr4:1360800-1389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:1362600-1379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:1363000-1380400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:1363000-1380800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:1363800-1380400	Strong transcription	Right Ventricle	heart
24	chr4:1364200-1381600	Strong transcription	Ovary	ovary
25	chr4:1365600-1378200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:1366400-1379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:1366400-1379800	Weak transcription	Fetal Lung	lung
28	chr4:1367000-1379000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:1367800-1379800	Weak transcription	HepG2	liver
30	chr4:1368000-1379400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:1368200-1380800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:1368800-1389200	Weak transcription	NHDF-Ad	bronchial
33	chr4:1370000-1377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:1370000-1379800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:1370200-1377800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:1370200-1378200	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:1370200-1380000	Weak transcription	HSMMtube	muscle
38	chr4:1370200-1381400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:1370400-1377600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:1370400-1377600	Weak transcription	Left Ventricle	heart
41	chr4:1370400-1379800	Weak transcription	Brain Substantia Nigra	brain
42	chr4:1370600-1379600	Weak transcription	Dnd41	blood
43	chr4:1370600-1382400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:1370800-1377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:1371000-1377600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:1371000-1379600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:1371200-1377600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:1371400-1377800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:1371400-1382200	Weak transcription	HSMM	muscle
50	chr4:1371600-1377600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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