Variant report

Variant	esv3330842
Chromosome Location	chr5:126201653-126205751
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:126188650..126190173-chr5:126200115..126202238,2	K562	blood:
2	chr5:126196960..126198923-chr5:126200721..126203078,3	K562	blood:
3	chr5:126165049..126167558-chr5:126199870..126202749,2	K562	blood:
4	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:
5	chr5:126205511..126206011-chr7:70301812..70302369,2	MCF-7	breast:
6	chr5:126195407..126197437-chr5:126200003..126202669,2	MCF-7	breast:
7	chr5:126201240..126202876-chr5:126283955..126286881,2	K562	blood:
8	chr5:126201588..126204262-chr5:126365462..126367986,2	K562	blood:
9	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
10	chr5:126199073..126201681-chr5:126376638..126378571,2	K562	blood:
11	chr5:126202154..126203859-chr5:126205061..126207137,2	K562	blood:
12	chr5:126202154..126203859-chr5:126205061..126207137,2	K562	blood:
13	chr5:126204703..126206861-chr5:126208069..126211338,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH3-2	chr5:126203406-126205155	NONHSAT103601

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MARCH3	hsa-miR-26b-5p	chr5:126205310-126205334

Variant related genes	Relation type
ENSG00000173926	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs145676463	chr5:126201684-126201685	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs60045571	chr5:126201752-126201753	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573477355	chr5:126201783-126201784	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148891593	chr5:126201788-126201789	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193172183	chr5:126201823-126201824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532801909	chr5:126201873-126201874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183571948	chr5:126201974-126201975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562375042	chr5:126202016-126202017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201187775	chr5:126202024-126202025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527902144	chr5:126202043-126202044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113011974	chr5:126202049-126202050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186917506	chr5:126202066-126202067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548042320	chr5:126202085-126202086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191862127	chr5:126202090-126202091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150974254	chr5:126202112-126202113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545942005	chr5:126202119-126202120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571592195	chr5:126202123-126202124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559511749	chr5:126202125-126202126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111889627	chr5:126202127-126202128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537056365	chr5:126202141-126202142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557452888	chr5:126202159-126202160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7738021	chr5:126202160-126202161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs376747840	chr5:126202201-126202202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57029577	chr5:126202205-126202206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553579707	chr5:126202213-126202214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573389817	chr5:126202235-126202236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183585149	chr5:126202259-126202260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561524939	chr5:126202266-126202267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375562299	chr5:126202302-126202303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559009752	chr5:126202316-126202317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577518894	chr5:126202321-126202322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188192581	chr5:126202323-126202324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193007248	chr5:126202373-126202374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528935934	chr5:126202433-126202434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542348964	chr5:126202443-126202444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368349471	chr5:126202466-126202467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559465364	chr5:126202488-126202489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530876651	chr5:126202527-126202528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185770576	chr5:126202528-126202529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199572279	chr5:126202566-126202567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71573985	chr5:126202572-126202573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76985719	chr5:126202590-126202591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199813145	chr5:126202592-126202593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13169295	chr5:126202603-126202604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs71587925	chr5:126202629-126202630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71587926	chr5:126202665-126202666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563969671	chr5:126202672-126202673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181751618	chr5:126202677-126202678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571037011	chr5:126202699-126202700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71587927	chr5:126202741-126202742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:126188600-126204400	Weak transcription	NH-A	brain
5	chr5:126188800-126204600	Weak transcription	NHLF	lung
6	chr5:126189400-126202600	Weak transcription	Right Atrium	heart
7	chr5:126190000-126203800	Weak transcription	Fetal Thymus	thymus
8	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:126190800-126203000	Weak transcription	Spleen	Spleen
10	chr5:126191400-126204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:126191600-126204400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:126191600-126204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:126191600-126204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:126194200-126204000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126194200-126204200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:126194200-126204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126194200-126204600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:126194400-126202800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:126194400-126204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:126194400-126204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
22	chr5:126194600-126202800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126194600-126204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:126194600-126204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:126199800-126204600	Enhancers	Fetal Brain Male	brain
26	chr5:126200200-126204000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:126200400-126202000	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:126200400-126202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:126200400-126203000	Weak transcription	K562	blood
30	chr5:126200400-126203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:126200400-126204600	Weak transcription	Psoas Muscle	Psoas
32	chr5:126200400-126204800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:126200400-126205000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:126200400-126207800	Weak transcription	Dnd41	blood
35	chr5:126200800-126201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:126200800-126201800	Enhancers	HSMMtube	muscle
37	chr5:126200800-126202600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:126201000-126201800	Strong transcription	A549	lung
39	chr5:126201000-126203000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:126201000-126204400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:126201000-126204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:126201200-126204000	Weak transcription	Thymus	Thymus
43	chr5:126201200-126204400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:126201200-126204600	Weak transcription	NHDF-Ad	bronchial
45	chr5:126201600-126201800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:126201600-126202600	Weak transcription	HUVEC	blood vessel
47	chr5:126201600-126203000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:126201600-126203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:126201600-126204200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:126201600-126204200	Weak transcription	HSMM	muscle

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