Variant report

Variant	esv3426754
Chromosome Location	chr5:179442361-179442739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:123)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr5:179442449-179442773	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:179442501-179442705	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB33	chr5:179442446-179442726	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179442350-179442400	HRCEpiC	kidney:	n/a
2	chr5:179442350-179442400	HRCEpiC	kidney:	n/a
3	chr5:179442399-179442449	SK-N-SH_RA	brain:	n/a
4	chr5:179442350-179442400	HL-60	blood:	n/a
5	chr5:179442350-179442400	ovcar-3	ovarian:	n/a
6	chr5:179442350-179442400	GM12878	blood:	n/a
7	chr5:179442399-179442449	CMK	blood:	n/a
8	chr5:179442350-179442400	HCPEpiC	choroid plexus:	n/a
9	chr5:179442350-179442400	RPTEC	kidney:	n/a
10	chr5:179442350-179442400	HEEpiC	esophagus:	n/a
11	chr5:179442350-179442400	MCF10A-Er-Src	breast:	n/a
12	chr5:179442399-179442449	GM12892	blood:	n/a
13	chr5:179442399-179442449	GM12891	blood:	n/a
14	chr5:179442399-179442449	HepG2	liver:	n/a
15	chr5:179442350-179442400	PFSK-1	brain:	n/a
16	chr5:179442399-179442449	SK-N-SH	brain:	n/a
17	chr5:179442350-179442400	Hepatocyte	liver:	n/a
18	chr5:179442350-179442400	GM12891	blood:	n/a
19	chr5:179442350-179442400	GM12892	blood:	n/a
20	chr5:179442350-179442400	SK-N-MC	brain:	n/a
21	chr5:179442350-179442400	AG09309	skin:	n/a
22	chr5:179442399-179442449	NHDF-neo	bronchial:	n/a
23	chr5:179442350-179442400	SAEC	small airway:	n/a
24	chr5:179442399-179442449	PANC-1	pancreas:	n/a
25	chr5:179442399-179442449	HEEpiC	esophagus:	n/a
26	chr5:179442350-179442400	PrEC	prostate:	n/a
27	chr5:179442350-179442400	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:179442350-179442400	T-47D	breast:	n/a
29	chr5:179442399-179442449	HCT-116	colon:	n/a
30	chr5:179442399-179442449	HRPEpiC	eye:	n/a
31	chr5:179442399-179442449	PFSK-1	brain:	n/a
32	chr5:179442399-179442449	HAEpiC	amniotic membrane:	n/a
33	chr5:179442399-179442449	GM19239	blood:	n/a
34	chr5:179442399-179442449	BJ	skin:	n/a
35	chr5:179442399-179442449	AG04449	skin:	fetal
36	chr5:179442350-179442400	SKMC	muscle:	n/a
37	chr5:179442399-179442449	AG09309	skin:	n/a
38	chr5:179442399-179442449	HIPEpiC	eye:	n/a
39	chr5:179442350-179442400	HUVEC	blood vessel:	n/a
40	chr5:179442350-179442400	AG04450	lung:	fetal
41	chr5:179442399-179442449	HCPEpiC	choroid plexus:	n/a
42	chr5:179442399-179442449	IMR90	lung:	fetal
43	chr5:179442399-179442449	HRCEpiC	kidney:	n/a
44	chr5:179442399-179442449	AG04450	lung:	fetal
45	chr5:179442350-179442400	NHDF-neo	bronchial:	n/a
46	chr5:179442350-179442400	NHBE	bronchial:	n/a
47	chr5:179442350-179442400	LNCaP	prostate:	n/a
48	chr5:179442399-179442449	U87	brain:	n/a
49	chr5:179442350-179442400	AG09319	gingival:	n/a
50	chr5:179442399-179442449	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179442610..179444709-chr5:179448350..179450019,2	K562	blood:
2	chr5:179437741..179439732-chr5:179442662..179444179,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-340-5p	chr5:179442361-179442382	MIMAT0004692

No data

Variant related genes	Relation type
MIR340	TF binding region
MIR340	CpG island
NUP50	Mature miRNA region
BCL2L11	Mature miRNA region
UBE2Z	Mature miRNA region
ZIC5	Mature miRNA region
SYPL1	Mature miRNA region
C1orf43	Mature miRNA region
CD46	Mature miRNA region
LPCAT1	Mature miRNA region
NET1	Mature miRNA region
ARHGAP12	Mature miRNA region
TMEM245	Mature miRNA region
C1orf198	Mature miRNA region
CHMP4B	Mature miRNA region
CSDE1	Mature miRNA region
ATP1A1	Mature miRNA region
SLC16A14	Mature miRNA region
LYSMD3	Mature miRNA region
CREBZF	Mature miRNA region
KIAA1586	Mature miRNA region
SOWAHC	Mature miRNA region
LRPPRC	Mature miRNA region
SZRD1	Mature miRNA region
PLAG1	Mature miRNA region
ZCCHC2	Mature miRNA region
BTG3	Mature miRNA region
HECTD2	Mature miRNA region
RFWD3	Mature miRNA region
DDX5	Mature miRNA region
CCBL2	Mature miRNA region
LEPR	Mature miRNA region
OSBPL1A	Mature miRNA region
BCL11A	Mature miRNA region
PELI1	Mature miRNA region
ACSL3	Mature miRNA region
CYP1B1	Mature miRNA region
ATXN1	Mature miRNA region
MINPP1	Mature miRNA region
PIM3	Mature miRNA region
RAB5B	Mature miRNA region
ZNF35	Mature miRNA region
TMEM138	Mature miRNA region
SHCBP1	Mature miRNA region
OTUD1	Mature miRNA region
KAT6B	Mature miRNA region
KCTD20	Mature miRNA region
PTPDC1	Mature miRNA region
KLF10	Mature miRNA region
RNF11	Mature miRNA region
SAMD12	Mature miRNA region
CRY2	Mature miRNA region
MCMBP	Mature miRNA region
LIMS1	Mature miRNA region
ACIN1	Mature miRNA region
RBM8A	Mature miRNA region
MPHOSPH9	Mature miRNA region
MET	Mature miRNA region
KLHL42	Mature miRNA region
TUBB3	Mature miRNA region
ZNF83	Mature miRNA region
EFHD2	Mature miRNA region
NEK7	Mature miRNA region
ANKRD40	Mature miRNA region
CDC23	Mature miRNA region
ASF1A	Mature miRNA region
FBXL3	Mature miRNA region
GPX8	Mature miRNA region
KIF11	Mature miRNA region
ID4	Mature miRNA region
LBR	Mature miRNA region
SCML2	Mature miRNA region
KDELC2	Mature miRNA region
SPIN4	Mature miRNA region
SIVA1	Mature miRNA region
ZFHX3	Mature miRNA region
TES	Mature miRNA region
HSDL1	Mature miRNA region
ELAVL1	Mature miRNA region
TNFRSF10B	Mature miRNA region
ZNF107	Mature miRNA region
MYLIP	Mature miRNA region
ZNF776	Mature miRNA region
ANKRD9	Mature miRNA region
HOXA5	Mature miRNA region
GID8	Mature miRNA region
HOXA9	Mature miRNA region
BCL10	Mature miRNA region
NKRF	Mature miRNA region
SLC7A11	Mature miRNA region
SOX4	Mature miRNA region
AMOT	Mature miRNA region
GALNT3	Mature miRNA region
LMNA	Mature miRNA region
APPL1	Mature miRNA region
ANKRD29	Mature miRNA region
SLC35G1	Mature miRNA region
PPP1R14C	Mature miRNA region
CTTN	Mature miRNA region
PDE4D	Mature miRNA region
QSOX2	Mature miRNA region
FBXO21	Mature miRNA region
BBS10	Mature miRNA region
SMC3	Mature miRNA region
SKI	Mature miRNA region
TLX1	Mature miRNA region
REV3L	Mature miRNA region
BIVM	Mature miRNA region
ECH1	Mature miRNA region
NUFIP2	Mature miRNA region
SERTAD2	Mature miRNA region
ITPR1	Mature miRNA region
MESDC1	Mature miRNA region
SLC39A7	Mature miRNA region
ZFYVE26	Mature miRNA region
CAPRIN2	Mature miRNA region
BTBD10	Mature miRNA region
GK5	Mature miRNA region
RIT1	Mature miRNA region
TXLNG	Mature miRNA region
DCTN5	Mature miRNA region
DEPDC1	Mature miRNA region
YIPF2	Mature miRNA region
SLX4	Mature miRNA region
KCNK1	Mature miRNA region

Extended variants
information (count: 25 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180849207	chr5:179442399-179442400	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs377405214	chr5:179442411-179442412	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs186593677	chr5:179442421-179442422	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs545606649	chr5:179442438-179442439	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs564192776	chr5:179442441-179442442	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs531248672	chr5:179442442-179442443	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs543438768	chr5:179442445-179442446	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs376575870	chr5:179442446-179442447	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs546369918	chr5:179442467-179442468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370980975	chr5:179442469-179442470	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563185232	chr5:179442475-179442476	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535682823	chr5:179442479-179442480	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11746941	chr5:179442504-179442505	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs66797381	chr5:179442525-179442526	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs149554963	chr5:179442548-179442549	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62405016	chr5:179442551-179442552	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373867453	chr5:179442563-179442564	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145846693	chr5:179442607-179442608	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs66616765	chr5:179442619-179442620	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141774755	chr5:179442643-179442644	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11443491	chr5:179442666-179442667	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150538523	chr5:179442701-179442702	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200519143	chr5:179442714-179442715	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200507014	chr5:179442736-179442737	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541830085	chr5:179442737-179442738	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179396600-179461800	Weak transcription	HSMM	muscle
2	chr5:179405200-179453400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:179421800-179462400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:179426400-179447200	Weak transcription	A549	lung
5	chr5:179427000-179447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179427400-179447200	Weak transcription	Hela-S3	cervix
7	chr5:179428600-179447200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:179428600-179462200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:179428800-179443400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179429000-179447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:179429400-179447200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:179429400-179452800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:179429600-179446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:179429600-179447000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:179429800-179445600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:179429800-179446800	Weak transcription	Gastric	stomach
17	chr5:179429800-179447200	Weak transcription	Placenta	Placenta
18	chr5:179429800-179462400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:179429800-179463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:179429800-179463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:179430000-179453000	Weak transcription	NH-A	brain
23	chr5:179430600-179462400	Weak transcription	HepG2	liver
24	chr5:179434800-179443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:179434800-179447000	Weak transcription	Fetal Kidney	kidney
26	chr5:179434800-179448200	Weak transcription	Fetal Heart	heart
27	chr5:179435000-179446400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179435000-179447200	Weak transcription	Spleen	Spleen
29	chr5:179435200-179448800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:179435400-179442400	Weak transcription	Small Intestine	intestine
31	chr5:179435400-179447000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:179435400-179447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:179435400-179453400	Weak transcription	Right Atrium	heart
34	chr5:179435800-179446800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:179435800-179454600	Weak transcription	K562	blood
36	chr5:179436000-179443400	Weak transcription	Fetal Brain Male	brain
37	chr5:179436200-179449200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:179436200-179450600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:179436600-179445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:179436800-179447400	Weak transcription	Fetal Lung	lung
41	chr5:179437600-179462600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:179438000-179443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:179438000-179466400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:179438200-179443400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:179439200-179452600	Weak transcription	HUVEC	blood vessel
46	chr5:179439400-179447000	Weak transcription	HSMMtube	muscle
47	chr5:179439400-179447200	Weak transcription	Right Ventricle	heart
48	chr5:179439600-179445600	Weak transcription	Lung	lung
49	chr5:179439600-179446800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:179439600-179447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links