Variant report

Variant	esv3388985
Chromosome Location	chr4:1310202-1312700
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1310028..1312801-chr4:1316680..1318602,2	K562	blood:
2	chr4:1304391..1306766-chr4:1307381..1311248,5	MCF-7	breast:
3	chr4:1283154..1285773-chr4:1311722..1313433,2	MCF-7	breast:
4	chr4:1292325..1294207-chr4:1308830..1310935,2	MCF-7	breast:
5	chr4:1311617..1313386-chr4:1346245..1347790,2	K562	blood:
6	chr4:1310884..1316010-chr4:1322677..1327905,6	MCF-7	breast:
7	chr4:1281256..1287018-chr4:1306961..1313181,10	MCF-7	breast:
8	chr4:1308889..1310910-chr4:1311069..1313283,2	MCF-7	breast:
9	chr4:1308889..1310910-chr4:1311069..1313283,2	MCF-7	breast:
10	chr4:1310679..1313406-chr4:1340697..1343778,3	MCF-7	breast:
11	chr4:1240404..1243266-chr4:1309392..1312107,3	K562	blood:
12	chr4:1241515..1245101-chr4:1310169..1312930,6	MCF-7	breast:
13	chr4:1282358..1284227-chr4:1308798..1311185,3	MCF-7	breast:

No data

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

Extended variants
information (count: 186 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs562168839	chr4:1310216-1310217	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs59492392	chr4:1310229-1310230	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369330505	chr4:1310233-1310234	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185727978	chr4:1310234-1310235	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147030408	chr4:1310275-1310276	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs533302415	chr4:1310290-1310291	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530634985	chr4:1310295-1310296	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552760218	chr4:1310304-1310305	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs571048560	chr4:1310318-1310319	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs534971332	chr4:1310343-1310344	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563101636	chr4:1310390-1310391	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs75812561	chr4:1310448-1310449	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs73793335	chr4:1310467-1310468	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567038849	chr4:1310486-1310487	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534309092	chr4:1310523-1310524	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112561229	chr4:1310546-1310547	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs78729618	chr4:1310547-1310548	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376585161	chr4:1310555-1310556	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369056236	chr4:1310558-1310559	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs540169081	chr4:1310608-1310609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs558500316	chr4:1310622-1310623	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570219111	chr4:1310629-1310630	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377010938	chr4:1310665-1310666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs72501966	chr4:1310667-1310668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555881370	chr4:1310692-1310693	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs138963213	chr4:1310693-1310694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs541060601	chr4:1310711-1310712	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs35201724	chr4:1310717-1310718	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs577967111	chr4:1310723-1310724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs147416821	chr4:1310726-1310727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs563264815	chr4:1310732-1310733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs530586430	chr4:1310733-1310734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs111566100	chr4:1310736-1310737	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs373687000	chr4:1310758-1310759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111791755	chr4:1310762-1310763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs542449057	chr4:1310765-1310766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs560628306	chr4:1310774-1310775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs200328260	chr4:1310792-1310793	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs12644418	chr4:1310795-1310796	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
40	rs376368622	chr4:1310811-1310812	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs189742859	chr4:1310819-1310820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs12648247	chr4:1310834-1310835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
43	rs13142399	chr4:1310844-1310845	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs62295168	chr4:1310846-1310847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs563278437	chr4:1310863-1310864	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs188677356	chr4:1310868-1310869	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs71614964	chr4:1310883-1310884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192485332	chr4:1310891-1310892	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs183381417	chr4:1310904-1310905	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs188491118	chr4:1310926-1310927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 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:180 , 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	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:1304400-1311400	Weak transcription	Fetal Kidney	kidney
4	chr4:1304400-1311400	Weak transcription	Stomach Mucosa	stomach
5	chr4:1304400-1313600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:1304400-1317200	Weak transcription	HSMMtube	muscle
7	chr4:1304400-1317400	Weak transcription	Fetal Brain Male	brain
8	chr4:1304800-1313400	Strong transcription	NHEK	skin
9	chr4:1305000-1312800	Strong transcription	NHLF	lung
10	chr4:1305000-1313600	Strong transcription	Fetal Intestine Small	intestine
11	chr4:1305000-1314800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:1305000-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:1305200-1312000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:1305200-1313400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:1305200-1313600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:1305200-1314000	Strong transcription	Dnd41	blood
18	chr4:1305200-1314200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:1305200-1314600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:1305200-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
23	chr4:1305400-1311400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:1305400-1312600	Strong transcription	Adipose Nuclei	Adipose
25	chr4:1305400-1313000	Strong transcription	Pancreas	Pancrea
26	chr4:1305400-1313400	Strong transcription	Brain Hippocampus Middle	brain
27	chr4:1305400-1313400	Strong transcription	Esophagus	oesophagus
28	chr4:1305400-1313600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:1305400-1314000	Strong transcription	Brain Anterior Caudate	brain
30	chr4:1305400-1314000	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:1305400-1316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:1305600-1313000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:1305600-1313000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr4:1305600-1313400	Strong transcription	Gastric	stomach
35	chr4:1305600-1313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:1305600-1313600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:1305600-1313800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:1305600-1313800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr4:1305800-1311400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:1305800-1313000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:1305800-1313200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr4:1305800-1313400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:1305800-1313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:1305800-1313400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:1305800-1313400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:1305800-1313400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr4:1305800-1313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:1305800-1313600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:1305800-1313600	Strong transcription	Colonic Mucosa	Colon
50	chr4:1305800-1313600	Strong transcription	Placenta	Placenta

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