Variant report

Variant	nsv976938
Chromosome Location	chr15:57838920-57842883
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57801026..57803220-chr15:57837290..57839682,2	K562	blood:
2	chr15:57837700..57840998-chr15:57842272..57845131,4	MCF-7	breast:
3	chr15:57842103..57844129-chr15:57847997..57849787,2	K562	blood:
4	chr15:57841937..57843856-chr15:57845649..57847200,2	K562	blood:
5	chr15:57837700..57840998-chr15:57842272..57845131,4	MCF-7	breast:
6	chr15:57838697..57840945-chr15:57847167..57849747,2	K562	blood:
7	chr15:57836929..57839560-chr15:57843156..57845372,2	K562	blood:
8	chr15:57842103..57844046-chr15:57847997..57849926,2	K562	blood:
9	chr15:57829364..57831242-chr15:57841384..57843647,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CGNL1	hsa-miR-125a-5p	chr15:57841121-57841146

Variant related genes	Relation type
ENSG00000240874	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16977593	chr15:57838939-57838940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531818466	chr15:57838949-57838950	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181113260	chr15:57838954-57838955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184647556	chr15:57838961-57838962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533979833	chr15:57838994-57838995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548356024	chr15:57838995-57838996	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139954077	chr15:57839009-57839010	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369088630	chr15:57839020-57839021	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1666572	chr15:57839049-57839050	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189166634	chr15:57839051-57839052	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530829641	chr15:57839061-57839062	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575681481	chr15:57839068-57839069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575393192	chr15:57839117-57839118	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538339000	chr15:57839133-57839134	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558242275	chr15:57839148-57839149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376604308	chr15:57839157-57839158	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540446827	chr15:57839170-57839171	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560586765	chr15:57839188-57839189	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574257580	chr15:57839213-57839214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182501163	chr15:57839232-57839233	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187134140	chr15:57839247-57839248	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550853637	chr15:57839341-57839342	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113301503	chr15:57839347-57839348	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111382475	chr15:57839360-57839361	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4774961	chr15:57839364-57839365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551857540	chr15:57839365-57839366	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539822160	chr15:57839375-57839376	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527450435	chr15:57839376-57839377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547554904	chr15:57839390-57839391	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567378466	chr15:57839397-57839398	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536546996	chr15:57839400-57839401	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189204401	chr15:57839424-57839425	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549850459	chr15:57839448-57839449	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181617093	chr15:57839476-57839477	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372249644	chr15:57839497-57839498	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373522485	chr15:57839513-57839514	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375650458	chr15:57839549-57839550	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185690213	chr15:57839567-57839568	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145594414	chr15:57839568-57839569	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534450972	chr15:57839575-57839576	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs16977594	chr15:57839587-57839588	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190150815	chr15:57839596-57839597	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368031565	chr15:57839598-57839599	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138352083	chr15:57839609-57839610	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201657469	chr15:57839613-57839614	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375228227	chr15:57839630-57839631	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368459524	chr15:57839636-57839637	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556904147	chr15:57839641-57839642	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374748325	chr15:57839642-57839643	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111610864	chr15:57839645-57839646	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57802600-57846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:57803200-57842800	Weak transcription	Aorta	Aorta
3	chr15:57819200-57841000	Weak transcription	Esophagus	oesophagus
4	chr15:57819800-57840000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:57821800-57842800	Strong transcription	Liver	Liver
6	chr15:57827600-57840600	Weak transcription	Fetal Lung	lung
7	chr15:57829400-57841200	Weak transcription	Left Ventricle	heart
8	chr15:57829400-57842600	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:57829600-57842000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:57829600-57843200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:57830000-57840800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:57830000-57846400	Weak transcription	Brain Substantia Nigra	brain
13	chr15:57830200-57842200	Strong transcription	Fetal Stomach	stomach
14	chr15:57830400-57843400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:57830600-57842200	Weak transcription	Brain Anterior Caudate	brain
16	chr15:57830800-57842400	Weak transcription	HUVEC	blood vessel
17	chr15:57831000-57839800	Weak transcription	Fetal Intestine Large	intestine
18	chr15:57831000-57840800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:57831400-57843400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr15:57831800-57839200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:57832400-57842600	Weak transcription	Fetal Kidney	kidney
22	chr15:57832400-57843200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:57833000-57839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:57833000-57841000	Weak transcription	Spleen	Spleen
25	chr15:57833400-57841400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:57834000-57843000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:57834800-57839000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:57834800-57840000	Strong transcription	Placenta	Placenta
29	chr15:57834800-57843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57835000-57839800	Weak transcription	Stomach Mucosa	stomach
31	chr15:57835200-57841800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr15:57835400-57843000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:57835800-57839800	Strong transcription	Gastric	stomach
34	chr15:57835800-57840000	Strong transcription	Ovary	ovary
35	chr15:57835800-57840200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:57835800-57840400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:57835800-57843200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:57836000-57839800	Strong transcription	Lung	lung
39	chr15:57836000-57840000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:57836200-57839800	Strong transcription	Pancreas	Pancrea
41	chr15:57836200-57840600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:57836200-57842000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:57836200-57843400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr15:57836600-57839800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:57836600-57842200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:57837000-57839800	Strong transcription	Fetal Intestine Small	intestine
47	chr15:57837600-57841200	Weak transcription	Right Ventricle	heart
48	chr15:57837800-57840200	Strong transcription	HepG2	liver
49	chr15:57837800-57853000	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:57838200-57839200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links