Variant report

Variant	esv275371
Chromosome Location	chr7:108250854-108257413
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:108253546..108254236-chr7:109729971..109730802,2	MCF-7	breast:
2	chr7:108253284..108254285-chr7:111375491..111376402,6	K562	blood:
3	chr7:108253317..108254250-chr7:108612859..108613643,2	MCF-7	breast:
4	chr7:108209177..108212583-chr7:108250280..108255068,5	MCF-7	breast:
5	chr7:108253416..108254032-chr7:108732134..108732945,2	MCF-7	breast:
6	chr7:108210096..108212539-chr7:108250642..108252871,3	MCF-7	breast:
7	chr7:108253689..108254301-chr7:111373979..111374487,2	K562	blood:
8	chr7:108256349..108259535-chr7:108260988..108264962,5	K562	blood:
9	chr7:108252844..108254285-chr7:111370207..111371238,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB9-1	chr7:108254377-108254711	ENSG00000225647

No data

Variant related genes	Relation type
ENSG00000177683	chromatin interactions
ENSG00000128590	chromatin interactions
ENSG00000135241	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs370306788	chr7:108250872-108250873	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556800446	chr7:108250877-108250878	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192004095	chr7:108250907-108250908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183049093	chr7:108250946-108250947	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559536853	chr7:108250949-108250950	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528290442	chr7:108250952-108250953	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188847666	chr7:108250988-108250989	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs561926691	chr7:108251036-108251037	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570247349	chr7:108251066-108251067	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs78441827	chr7:108251071-108251072	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113473228	chr7:108251072-108251073	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs552381549	chr7:108251093-108251094	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147954338	chr7:108251117-108251118	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs113234483	chr7:108251118-108251119	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527322524	chr7:108251125-108251126	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs141590666	chr7:108251143-108251144	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369170505	chr7:108251147-108251148	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537321236	chr7:108251185-108251186	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551753538	chr7:108251201-108251202	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs193085118	chr7:108251266-108251267	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569200477	chr7:108251298-108251299	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs150396287	chr7:108251300-108251301	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs199933110	chr7:108251348-108251349	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs185829680	chr7:108251404-108251405	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs553054757	chr7:108251411-108251412	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373222966	chr7:108251412-108251413	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs573086448	chr7:108251454-108251455	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs115938476	chr7:108251478-108251479	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs561986673	chr7:108251504-108251505	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs539324912	chr7:108251522-108251523	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375192693	chr7:108251564-108251565	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs67940245	chr7:108251587-108251588	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537533477	chr7:108251608-108251609	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs555807450	chr7:108251690-108251691	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs553439231	chr7:108251691-108251692	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs563742818	chr7:108251692-108251693	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138236095	chr7:108251700-108251701	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189054728	chr7:108251750-108251751	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs536401621	chr7:108251766-108251767	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs528680789	chr7:108251768-108251769	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs60977479	chr7:108251807-108251808	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568297480	chr7:108251808-108251809	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs149155241	chr7:108251836-108251837	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs77127129	chr7:108251856-108251857	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs35606238	chr7:108251886-108251887	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs77999803	chr7:108251889-108251890	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540657157	chr7:108251907-108251908	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs539024961	chr7:108251948-108251949	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs55810538	chr7:108251949-108251950	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
50	rs572949775	chr7:108251960-108251961	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Autism	20841430	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108246000-108251400	Weak transcription	Brain Germinal Matrix	brain
2	chr7:108246200-108251000	Weak transcription	Placenta	Placenta
3	chr7:108248000-108251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:108249200-108254800	Enhancers	Liver	Liver
5	chr7:108249800-108251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:108251000-108251200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:108251000-108251600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:108251000-108252000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:108251000-108252000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:108251000-108252000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:108251000-108252800	Enhancers	Placenta	Placenta
12	chr7:108251400-108254000	Enhancers	Brain Germinal Matrix	brain
13	chr7:108251800-108252000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:108252000-108254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:108252000-108255000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:108252200-108255000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:108252600-108253800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:108252600-108254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:108253800-108255400	Enhancers	HepG2	liver
20	chr7:108254000-108254200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:108254000-108254200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:108254000-108254200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr7:108254000-108254400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:108254000-108254600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:108254000-108254600	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:108254000-108254800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:108254000-108254800	Enhancers	Colon Smooth Muscle	Colon
28	chr7:108254000-108255400	Enhancers	Fetal Lung	lung
29	chr7:108254000-108255600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:108254000-108255600	Enhancers	Fetal Kidney	kidney
31	chr7:108254200-108255000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:108254200-108255400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:108254200-108255600	Active TSS	Brain Germinal Matrix	brain
34	chr7:108254200-108255800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:108254200-108258000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:108254200-108258600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:108254400-108255600	Enhancers	Fetal Brain Male	brain
38	chr7:108254400-108255800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:108254600-108255000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:108254600-108255400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:108254600-108258600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:108254800-108255000	Flanking Active TSS	Liver	Liver
43	chr7:108254800-108255200	Enhancers	Fetal Stomach	stomach
44	chr7:108255000-108255200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:108255000-108255200	Enhancers	Liver	Liver
46	chr7:108255000-108255400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:108255000-108255400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:108255200-108255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:108255200-108255400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:108255200-108255400	Flanking Active TSS	Liver	Liver

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