Variant report

Variant	esv3371049
Chromosome Location	chr4:1308377-1310925
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1310679..1313406-chr4:1340697..1343778,3	MCF-7	breast:
2	chr4:1292325..1294207-chr4:1308830..1310935,2	MCF-7	breast:
3	chr4:1282358..1284227-chr4:1308798..1311185,3	MCF-7	breast:
4	chr4:1310884..1316010-chr4:1322677..1327905,6	MCF-7	breast:
5	chr4:1241515..1245101-chr4:1310169..1312930,6	MCF-7	breast:
6	chr4:1304391..1306766-chr4:1307381..1311248,5	MCF-7	breast:
7	chr4:1240404..1243266-chr4:1309392..1312107,3	K562	blood:
8	chr4:1307167..1310086-chr4:1318831..1320569,2	MCF-7	breast:
9	chr4:1299735..1301885-chr4:1304010..1308406,3	MCF-7	breast:
10	chr4:1302981..1306266-chr4:1306849..1309595,3	MCF-7	breast:
11	chr4:1307605..1310027-chr4:1339199..1341815,2	K562	blood:
12	chr4:1307443..1309271-chr4:1314999..1317229,2	K562	blood:
13	chr4:1308889..1310910-chr4:1311069..1313283,2	MCF-7	breast:
14	chr4:1310028..1312801-chr4:1316680..1318602,2	K562	blood:
15	chr4:1281256..1287018-chr4:1306961..1313181,10	MCF-7	breast:

No data

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

Extended variants
information (count: 162 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs550759537	chr4:1308381-1308382	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373016579	chr4:1308390-1308391	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12642410	chr4:1308409-1308410	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs187956558	chr4:1308432-1308433	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs58880455	chr4:1308433-1308434	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13149952	chr4:1308437-1308438	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs192987814	chr4:1308473-1308474	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534182112	chr4:1308489-1308490	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552316449	chr4:1308527-1308528	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11247990	chr4:1308536-1308537	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11247991	chr4:1308564-1308565	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374540183	chr4:1308598-1308599	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556508087	chr4:1308599-1308600	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574640205	chr4:1308628-1308629	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535669929	chr4:1308629-1308630	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77747095	chr4:1308648-1308649	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572082961	chr4:1308654-1308655	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545765187	chr4:1308656-1308657	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12501739	chr4:1308673-1308674	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377017978	chr4:1308681-1308682	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557517388	chr4:1308682-1308683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554181556	chr4:1308683-1308684	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544455081	chr4:1308686-1308687	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562862376	chr4:1308709-1308710	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530195279	chr4:1308722-1308723	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143265289	chr4:1308734-1308735	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368005940	chr4:1308740-1308741	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560612521	chr4:1308743-1308744	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370257536	chr4:1308834-1308835	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552532681	chr4:1308875-1308876	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570714884	chr4:1308892-1308893	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184020323	chr4:1308919-1308920	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187963989	chr4:1308923-1308924	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570241355	chr4:1308941-1308942	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs180922117	chr4:1308942-1308943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535629711	chr4:1309035-1309036	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs554040470	chr4:1309043-1309044	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565767672	chr4:1309067-1309068	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77610549	chr4:1309068-1309069	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559286629	chr4:1309079-1309080	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148301441	chr4:1309133-1309134	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545816325	chr4:1309141-1309142	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367557668	chr4:1309150-1309151	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575917517	chr4:1309160-1309161	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373626553	chr4:1309172-1309173	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139294232	chr4:1309187-1309188	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142517889	chr4:1309205-1309206	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376829962	chr4:1309206-1309207	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs117607367	chr4:1309211-1309212	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574820842	chr4:1309217-1309218	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1293200-1312000	Weak transcription	Hela-S3	cervix
2	chr4:1303200-1310200	Weak transcription	Small Intestine	intestine
3	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:1304400-1311400	Weak transcription	Fetal Kidney	kidney
5	chr4:1304400-1311400	Weak transcription	Stomach Mucosa	stomach
6	chr4:1304400-1313600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:1304400-1317200	Weak transcription	HSMMtube	muscle
8	chr4:1304400-1317400	Weak transcription	Fetal Brain Male	brain
9	chr4:1304600-1310000	Weak transcription	Psoas Muscle	Psoas
10	chr4:1304800-1309400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:1304800-1313400	Strong transcription	NHEK	skin
12	chr4:1305000-1312800	Strong transcription	NHLF	lung
13	chr4:1305000-1313600	Strong transcription	Fetal Intestine Small	intestine
14	chr4:1305000-1314800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:1305000-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:1305200-1312000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:1305200-1313400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:1305200-1313600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:1305200-1314000	Strong transcription	Dnd41	blood
21	chr4:1305200-1314200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:1305200-1314600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:1305200-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
26	chr4:1305400-1309000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:1305400-1310200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:1305400-1311400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:1305400-1312600	Strong transcription	Adipose Nuclei	Adipose
30	chr4:1305400-1313000	Strong transcription	Pancreas	Pancrea
31	chr4:1305400-1313400	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:1305400-1313400	Strong transcription	Esophagus	oesophagus
33	chr4:1305400-1313600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:1305400-1314000	Strong transcription	Brain Anterior Caudate	brain
35	chr4:1305400-1314000	Strong transcription	Fetal Muscle Leg	muscle
36	chr4:1305400-1316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:1305600-1308800	ZNF genes & repeats	Thymus	Thymus
38	chr4:1305600-1309000	Strong transcription	Brain Germinal Matrix	brain
39	chr4:1305600-1313000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr4:1305600-1313000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr4:1305600-1313400	Strong transcription	Gastric	stomach
42	chr4:1305600-1313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:1305600-1313600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:1305600-1313800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:1305600-1313800	Strong transcription	Brain Cingulate Gyrus	brain
46	chr4:1305800-1309000	Strong transcription	Right Ventricle	heart
47	chr4:1305800-1311400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:1305800-1313000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:1305800-1313200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr4:1305800-1313400	Strong transcription	H1 Cell Line	embryonic stem cell

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