Variant report

Variant	esv1792680
Chromosome Location	chr7:108246985-108254739
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:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:108209669..108211584-chr7:108246812..108249630,2	K562	blood:
2	chr7:108246237..108247007-chr7:111375441..111376362,2	K562	blood:
3	chr7:108253284..108254285-chr7:111375491..111376402,6	K562	blood:
4	chr7:108253689..108254301-chr7:111373979..111374487,2	K562	blood:
5	chr7:108238391..108240392-chr7:108247099..108249681,2	MCF-7	breast:
6	chr7:108209177..108212583-chr7:108250280..108255068,5	MCF-7	breast:
7	chr7:108253317..108254250-chr7:108612859..108613643,2	MCF-7	breast:
8	chr7:108243393..108246050-chr7:108248845..108250724,2	K562	blood:
9	chr7:108253416..108254032-chr7:108732134..108732945,2	MCF-7	breast:
10	chr7:108230124..108232941-chr7:108244344..108247256,2	K562	blood:
11	chr7:108253546..108254236-chr7:109729971..109730802,2	MCF-7	breast:
12	chr7:108210096..108212539-chr7:108250642..108252871,3	MCF-7	breast:
13	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
ENSG00000225647	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000128590	chromatin interactions
ENSG00000177683	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557967044	chr7:108247030-108247031	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558201496	chr7:108247043-108247044	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs577754261	chr7:108247073-108247074	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs549209417	chr7:108247091-108247092	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560142880	chr7:108247103-108247104	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs572914051	chr7:108247206-108247207	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs975124	chr7:108247207-108247208	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs367630778	chr7:108247236-108247237	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs561871188	chr7:108247247-108247248	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs183139203	chr7:108247264-108247265	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs187816427	chr7:108247274-108247275	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34653764	chr7:108247276-108247277	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs138984384	chr7:108247317-108247318	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs975125	chr7:108247333-108247334	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs560051276	chr7:108247421-108247422	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs190874364	chr7:108247424-108247425	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143119644	chr7:108247439-108247440	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs535458369	chr7:108247441-108247442	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548970529	chr7:108247550-108247551	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs568855739	chr7:108247556-108247557	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs182576340	chr7:108247566-108247567	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537980438	chr7:108247605-108247606	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs557565853	chr7:108247606-108247607	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs188042275	chr7:108247670-108247671	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs533710605	chr7:108247708-108247709	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs567434926	chr7:108247733-108247734	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs192671755	chr7:108247740-108247741	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs532367795	chr7:108247745-108247746	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs573573540	chr7:108247763-108247764	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs34996401	chr7:108247777-108247778	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs117808689	chr7:108247788-108247789	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs557698525	chr7:108247816-108247817	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs561778094	chr7:108247877-108247878	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs182794520	chr7:108247882-108247883	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs143732006	chr7:108247884-108247885	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs187451848	chr7:108247954-108247955	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs115137575	chr7:108247963-108247964	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs148111903	chr7:108247979-108247980	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537367849	chr7:108247996-108247997	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs538418185	chr7:108248002-108248003	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs111597032	chr7:108248011-108248012	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs549688763	chr7:108248012-108248013	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs568919557	chr7:108248062-108248063	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs11767037	chr7:108248068-108248069	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs528443391	chr7:108248072-108248073	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs192256905	chr7:108248088-108248089	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs571219103	chr7:108248091-108248092	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs534010759	chr7:108248111-108248112	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs553709754	chr7:108248112-108248113	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11767071	chr7:108248113-108248114	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108244400-108247800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:108246000-108251400	Weak transcription	Brain Germinal Matrix	brain
3	chr7:108246200-108251000	Weak transcription	Placenta	Placenta
4	chr7:108246800-108247000	Enhancers	Fetal Stomach	stomach
5	chr7:108247800-108248000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:108248000-108251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:108248600-108249200	Enhancers	HepG2	liver
8	chr7:108248600-108249800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:108249200-108254800	Enhancers	Liver	Liver
10	chr7:108249800-108251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:108251000-108251200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:108251000-108251600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:108251000-108252000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:108251000-108252000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:108251000-108252000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:108251000-108252800	Enhancers	Placenta	Placenta
17	chr7:108251400-108254000	Enhancers	Brain Germinal Matrix	brain
18	chr7:108251800-108252000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:108252000-108254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:108252000-108255000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:108252200-108255000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:108252600-108253800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:108252600-108254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:108253800-108255400	Enhancers	HepG2	liver
25	chr7:108254000-108254200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:108254000-108254200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:108254000-108254200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr7:108254000-108254400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:108254000-108254600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:108254000-108254600	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:108254000-108254800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:108254000-108254800	Enhancers	Colon Smooth Muscle	Colon
33	chr7:108254000-108255400	Enhancers	Fetal Lung	lung
34	chr7:108254000-108255600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:108254000-108255600	Enhancers	Fetal Kidney	kidney
36	chr7:108254200-108255000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:108254200-108255400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:108254200-108255600	Active TSS	Brain Germinal Matrix	brain
39	chr7:108254200-108255800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:108254200-108258000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:108254200-108258600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:108254400-108255600	Enhancers	Fetal Brain Male	brain
43	chr7:108254400-108255800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:108254600-108255000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:108254600-108255400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:108254600-108258600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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