Variant report

Variant	esv18735
Chromosome Location	chr15:83657697-83659355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:83658959-83659062	GM13976	blood:	n/a	n/a
2	MYC	chr15:83657794-83657888	K562	blood:	n/a	n/a
3	POLR2A	chr15:83658662-83658742	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:83657935-83658135	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:83658219-83658391	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr15:83659350-83659480	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:83658332-83658488	MCF10A-Er-Src	breast:	n/a	n/a
8	RFX5	chr15:83658279-83658290	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83657785-83657835	H1-hESC	embryonic stem cell:	embryo
2	chr15:83657785-83657835	HRE	kidney:	n/a
3	chr15:83657785-83657835	HCPEpiC	choroid plexus:	n/a
4	chr15:83657785-83657835	NHBE	bronchial:	n/a
5	chr15:83657785-83657835	GM12878	blood:	n/a
6	chr15:83657785-83657835	HRCEpiC	kidney:	n/a
7	chr15:83657785-83657835	PANC-1	pancreas:	n/a
8	chr15:83657785-83657835	HMEC	breast:	n/a
9	chr15:83657785-83657835	AG09309	skin:	n/a
10	chr15:83657785-83657835	NT2-D1	testis:	n/a
11	chr15:83657785-83657835	A549	lung:	n/a
12	chr15:83657785-83657835	MCF-7	breast:	n/a
13	chr15:83657785-83657835	T-47D	breast:	n/a
14	chr15:83657785-83657835	AG09319	gingival:	n/a
15	chr15:83657785-83657835	BJ	skin:	n/a
16	chr15:83657785-83657835	AG10803	skin:	n/a
17	chr15:83657785-83657835	IMR90	lung:	fetal
18	chr15:83657785-83657835	HIPEpiC	eye:	n/a
19	chr15:83657785-83657835	ECC-1	luminal epithelium:	n/a
20	chr15:83657785-83657835	Jurkat	blood:	n/a
21	chr15:83657785-83657835	CMK	blood:	n/a
22	chr15:83657785-83657835	HPAEpiC	pulmonary alveolar:	n/a
23	chr15:83657785-83657835	SAEC	small airway:	n/a
24	chr15:83657785-83657835	HCM	heart:	n/a
25	chr15:83657785-83657835	AoSMC	blood vessel:	n/a
26	chr15:83657785-83657835	LNCaP	prostate:	n/a
27	chr15:83657785-83657835	HUVEC	blood vessel:	n/a
28	chr15:83657785-83657835	HCT-116	colon:	n/a
29	chr15:83657785-83657835	HL-60	blood:	n/a
30	chr15:83657785-83657835	Caco-2	colon:	n/a
31	chr15:83657785-83657835	HNPCEpiC	eye:	n/a
32	chr15:83657785-83657835	K562	blood:	n/a
33	chr15:83657785-83657835	SK-N-SH_RA	brain:	n/a
34	chr15:83657785-83657835	MCF10A-Er-Src	breast:	n/a
35	chr15:83657785-83657835	ovcar-3	ovarian:	n/a
36	chr15:83657785-83657835	SK-N-SH	brain:	n/a
37	chr15:83657785-83657835	GM12892	blood:	n/a
38	chr15:83657785-83657835	HCF	heart:	n/a
39	chr15:83657785-83657835	AG04449	skin:	fetal
40	chr15:83657785-83657835	GM19239	blood:	n/a
41	chr15:83657785-83657835	HEEpiC	esophagus:	n/a
42	chr15:83657785-83657835	PrEC	prostate:	n/a
43	chr15:83657785-83657835	HepG2	liver:	n/a
44	chr15:83657785-83657835	SKMC	muscle:	n/a
45	chr15:83657785-83657835	U87	brain:	n/a
46	chr15:83657785-83657835	AG04450	lung:	fetal
47	chr15:83657785-83657835	HEK293	kidney:	embryo
48	chr15:83657785-83657835	PFSK-1	brain:	n/a
49	chr15:83657785-83657835	ProgFib	skin:	n/a
50	chr15:83657785-83657835	Hepatocyte	liver:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83658098..83660468-chr15:83666992..83669244,2	MCF-7	breast:
2	chr15:83500530..83503230-chr15:83659180..83661791,2	K562	blood:
3	chr15:83653421..83657652-chr15:83658187..83664048,8	MCF-7	breast:
4	chr15:83620995..83623285-chr15:83658339..83660401,2	MCF-7	breast:
5	chr15:83656238..83660142-chr15:83661647..83663488,3	K562	blood:
6	chr15:83655503..83657739-chr15:83659649..83661326,2	K562	blood:
7	chr15:83657996..83660029-chr15:83677727..83680589,2	MCF-7	breast:
8	chr15:83517627..83519742-chr15:83658208..83659783,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FAM103A1	hsa-let-7c-5p	chr15:83659016-83659036
2	FAM103A1	hsa-let-7c-5p	chr15:83659029-83659036

Variant related genes	Relation type
HOMER2	TF binding region
HOMER2	CpG island
ENSG00000169612	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000103942	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74030864	chr15:83657712-83657713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551439689	chr15:83657727-83657728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571486084	chr15:83657734-83657735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552300979	chr15:83657742-83657743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199910176	chr15:83657760-83657761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146767881	chr15:83657785-83657786	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs201830843	chr15:83657786-83657787	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs61738562	chr15:83657800-83657801	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373175542	chr15:83657819-83657820	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs145249302	chr15:83657826-83657827	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs147997413	chr15:83657843-83657844	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141691714	chr15:83657859-83657860	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150238339	chr15:83657865-83657866	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576131314	chr15:83657874-83657875	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560026998	chr15:83657877-83657878	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143249247	chr15:83657906-83657907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545191636	chr15:83657913-83657914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375351356	chr15:83657929-83657930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146259543	chr15:83657937-83657938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180891852	chr15:83657968-83657969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541184356	chr15:83658034-83658035	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561237502	chr15:83658121-83658122	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574641189	chr15:83658146-83658147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543048661	chr15:83658149-83658150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562723892	chr15:83658175-83658176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549676241	chr15:83658180-83658181	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531861007	chr15:83658211-83658212	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551481951	chr15:83658220-83658221	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565005808	chr15:83658251-83658252	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs568365942	chr15:83658344-83658345	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs527890542	chr15:83658345-83658346	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs185495151	chr15:83658350-83658351	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs189805587	chr15:83658369-83658370	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs536538218	chr15:83658447-83658448	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs549785433	chr15:83658529-83658530	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs115038311	chr15:83658588-83658589	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs200751289	chr15:83658673-83658674	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs182796186	chr15:83658677-83658678	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs368003453	chr15:83658682-83658683	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs371706950	chr15:83658695-83658696	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs200941963	chr15:83658701-83658702	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs147533881	chr15:83658715-83658716	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs367747091	chr15:83658719-83658720	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs35679302	chr15:83658720-83658721	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372110976	chr15:83658729-83658730	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs371817583	chr15:83658739-83658740	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs373665648	chr15:83658773-83658774	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201626883	chr15:83658796-83658797	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368166772	chr15:83658807-83658808	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs200149891	chr15:83658808-83658809	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83655400-83675400	Weak transcription	Spleen	Spleen
2	chr15:83655600-83659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:83655800-83659200	Weak transcription	Aorta	Aorta
4	chr15:83655800-83668200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:83655800-83668200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:83655800-83673600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:83655800-83675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:83655800-83679200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:83656000-83657800	Weak transcription	HSMM	muscle
10	chr15:83656000-83659600	Weak transcription	HUVEC	blood vessel
11	chr15:83656000-83668600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:83656000-83669000	Weak transcription	Left Ventricle	heart
13	chr15:83656000-83669000	Weak transcription	Right Atrium	heart
14	chr15:83656000-83675200	Weak transcription	Esophagus	oesophagus
15	chr15:83656200-83657800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:83656200-83658000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:83656200-83658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:83656200-83658200	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:83656200-83660600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:83656200-83661000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:83656200-83664000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:83656200-83668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:83656200-83668600	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:83656200-83668600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:83656200-83668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:83656200-83669000	Weak transcription	Colonic Mucosa	Colon
27	chr15:83656200-83669000	Weak transcription	HMEC	breast
28	chr15:83656200-83669000	Weak transcription	HSMMtube	muscle
29	chr15:83656200-83669000	Weak transcription	NHLF	lung
30	chr15:83656200-83673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:83656200-83677800	Weak transcription	Fetal Brain Male	brain
32	chr15:83656200-83679000	Weak transcription	Right Ventricle	heart
33	chr15:83656400-83657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:83656400-83658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:83656400-83658400	Strong transcription	Fetal Stomach	stomach
36	chr15:83656400-83659400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:83656400-83659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:83656400-83659400	Weak transcription	Fetal Lung	lung
39	chr15:83656400-83660800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:83656400-83661200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:83656400-83668200	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:83656400-83668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:83656400-83668800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:83656400-83669000	Weak transcription	Fetal Kidney	kidney
47	chr15:83656400-83679200	Weak transcription	Fetal Heart	heart
48	chr15:83656600-83658200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:83656600-83658200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:83656600-83658200	Strong transcription	Fetal Muscle Trunk	muscle

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