Variant report

Variant	nsv880679
Chromosome Location	chr4:175502088-175552622
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175547041..175549414-chr4:175550362..175552993,2	K562	blood:
2	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
3	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:
4	chr4:175521782..175524455-chr4:175541402..175543180,2	K562	blood:
5	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
6	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
7	chr4:175533943..175535953-chr4:175558872..175561336,2	K562	blood:
8	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
9	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
10	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:
11	chr4:175246118..175249047-chr4:175551660..175553863,2	K562	blood:
12	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
13	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
14	chr4:175547041..175549414-chr4:175550362..175552993,2	K562	blood:
15	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
16	chr4:175521782..175524455-chr4:175541402..175543180,2	K562	blood:

No data

Extended variants
information (count: 1725 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11725394	chr4:175502088-175502089	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551222485	chr4:175502094-175502095	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528366565	chr4:175502140-175502141	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369140185	chr4:175502178-175502179	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540140830	chr4:175502215-175502216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553344471	chr4:175502219-175502220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183328432	chr4:175502247-175502248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187666526	chr4:175502328-175502329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554928161	chr4:175502369-175502370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377642093	chr4:175502417-175502418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143005806	chr4:175502439-175502440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192856098	chr4:175502452-175502453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543877999	chr4:175502477-175502478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35196533	chr4:175502545-175502546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78263012	chr4:175502581-175502582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185015182	chr4:175502582-175502583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563300974	chr4:175502596-175502597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188037071	chr4:175502628-175502629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368722899	chr4:175502643-175502644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561432444	chr4:175502645-175502646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574535425	chr4:175502646-175502647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73867643	chr4:175502662-175502663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550272850	chr4:175502738-175502739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548634207	chr4:175502743-175502744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551908547	chr4:175502745-175502746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559253137	chr4:175502760-175502761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562039663	chr4:175502770-175502771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36032417	chr4:175502877-175502878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192855809	chr4:175502936-175502937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528394037	chr4:175502994-175502995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183630521	chr4:175503004-175503005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2250175	chr4:175503012-175503013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187990166	chr4:175503030-175503031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564938996	chr4:175503052-175503053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547164309	chr4:175503070-175503071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35333048	chr4:175503115-175503116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567087693	chr4:175503122-175503123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367898772	chr4:175503125-175503126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182009822	chr4:175503144-175503145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534686286	chr4:175503163-175503164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371563137	chr4:175503182-175503183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17297171	chr4:175503232-175503233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537560623	chr4:175503238-175503239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567898736	chr4:175503287-175503288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557381488	chr4:175503399-175503400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546901605	chr4:175503494-175503495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540093627	chr4:175503503-175503504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367725143	chr4:175503522-175503523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377681070	chr4:175503541-175503542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11930831	chr4:175503542-175503543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175497000-175504000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:175497200-175503600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:175498000-175502200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:175498200-175503400	Weak transcription	Placenta	Placenta
5	chr4:175500200-175503600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:175501000-175512600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:175501600-175502200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:175501600-175502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:175501600-175502200	Enhancers	NHEK	skin
10	chr4:175501800-175502200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:175501800-175502200	Weak transcription	NHDF-Ad	bronchial
12	chr4:175501800-175503600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:175502000-175503800	Weak transcription	Stomach Mucosa	stomach
14	chr4:175502000-175504000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:175502200-175502400	Enhancers	NHDF-Ad	bronchial
16	chr4:175502200-175502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:175502200-175503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:175502400-175504600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:175502400-175513400	Weak transcription	NHDF-Ad	bronchial
20	chr4:175503200-175504000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:175503200-175504200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:175503400-175504000	Enhancers	Placenta	Placenta
23	chr4:175503600-175504800	Enhancers	Fetal Intestine Large	intestine
24	chr4:175503600-175504800	Enhancers	Fetal Intestine Small	intestine
25	chr4:175503600-175506800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:175503800-175504600	Enhancers	Stomach Mucosa	stomach
27	chr4:175504000-175504400	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:175504000-175504600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:175504600-175506600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:175506600-175507000	Enhancers	Spleen	Spleen
31	chr4:175506600-175507200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:175506800-175507200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:175506800-175507200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:175507200-175510600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:175507200-175510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:175509000-175509200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr4:175510600-175510800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:175510600-175512000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:175510600-175513200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:175510800-175511200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:175510800-175511800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:175510800-175512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:175510800-175512400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:175511000-175512800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:175511200-175512000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr4:175511200-175512800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:175511400-175511600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:175511600-175512400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:175511600-175512400	Enhancers	Primary T cells from cord blood	blood
50	chr4:175511600-175512600	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links