Variant report

Variant	esv1791762
Chromosome Location	chr7:86940803-86954233
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:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86946860..86949109-chr7:87005374..87008046,2	MCF-7	breast:
2	chr7:86945673..86950114-chr7:86965968..86970483,8	MCF-7	breast:
3	chr7:86945551..86947910-chr7:86951997..86954266,2	MCF-7	breast:
4	chr7:86948288..86950191-chr7:86954931..86956823,2	MCF-7	breast:
5	chr7:86945551..86947910-chr7:86951997..86954266,2	MCF-7	breast:
6	chr7:86940648..86950332-chr7:86969372..86978780,43	MCF-7	breast:
7	chr7:86786197..86788749-chr7:86943731..86946394,2	MCF-7	breast:
8	chr7:86940706..86943754-chr7:87040943..87048765,8	MCF-7	breast:
9	chr7:86946374..86948033-chr7:86980911..86983013,2	MCF-7	breast:
10	chr7:86945698..86948124-chr7:87141645..87143265,2	MCF-7	breast:
11	chr7:86939761..86941964-chr7:86945679..86947372,2	MCF-7	breast:
12	chr7:86942444..86943029-chr7:87045736..87046673,2	K562	blood:
13	chr7:86933016..86934847-chr7:86945997..86948049,2	MCF-7	breast:
14	chr7:86941239..86942263-chr7:87043678..87045087,6	K562	blood:
15	chr7:86952573..86954250-chr7:86973648..86976446,2	MCF-7	breast:
16	chr7:86945090..86947270-chr7:86974590..86977054,2	K562	blood:
17	chr7:86940013..86941754-chr7:86943366..86945178,2	K562	blood:
18	chr7:86940013..86941754-chr7:86943366..86945178,2	K562	blood:
19	chr7:86848323..86850355-chr7:86945622..86948380,3	MCF-7	breast:
20	chr7:86940770..86949819-chr7:87040881..87047482,46	MCF-7	breast:
21	chr7:86946093..86951031-chr7:87040729..87046764,10	MCF-7	breast:
22	chr7:86941321..86942494-chr7:87045634..87046678,6	MCF-7	breast:
23	chr7:86939761..86941964-chr7:86945679..86947372,2	MCF-7	breast:
24	chr7:86941297..86942296-chr7:87045682..87046950,19	K562	blood:
25	chr7:86941251..86942248-chr7:87045584..87047452,18	MCF-7	breast:
26	chr7:86941366..86942177-chr7:87136531..87137084,2	MCF-7	breast:
27	chr7:86941299..86944197-chr7:86944457..86949884,8	MCF-7	breast:
28	chr7:86941299..86944197-chr7:86944457..86949884,8	MCF-7	breast:
29	chr7:86946454..86949048-chr7:87033873..87037123,3	MCF-7	breast:
30	chr7:86941043..86949081-chr7:86971937..86980200,24	MCF-7	breast:
31	chr7:86945395..86947289-chr7:87038395..87040180,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-1	chr7:86953598-86954760	XLOC_006516

No data

Variant related genes	Relation type
ENSG00000005469	chromatin interactions
ENSG00000135185	chromatin interactions
ENSG00000182165	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7781276	chr7:86940803-86940804	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77194115	chr7:86940808-86940809	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141497149	chr7:86940823-86940824	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187182997	chr7:86940899-86940900	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191641546	chr7:86940932-86940933	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529364617	chr7:86940946-86940947	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547576772	chr7:86940947-86940948	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146175642	chr7:86940966-86940967	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531534736	chr7:86941003-86941004	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539659235	chr7:86941040-86941041	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569235068	chr7:86941118-86941119	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6948007	chr7:86941154-86941155	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554835163	chr7:86941266-86941267	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570253059	chr7:86941298-86941299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537390997	chr7:86941302-86941303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554904825	chr7:86941318-86941319	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573580878	chr7:86941335-86941336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183852476	chr7:86941414-86941415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534387872	chr7:86941456-86941457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375355368	chr7:86941595-86941596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1358065	chr7:86941616-86941617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188201324	chr7:86941622-86941623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141676398	chr7:86941665-86941666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1358064	chr7:86941669-86941670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs115578670	chr7:86941683-86941684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13236967	chr7:86941715-86941716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562013243	chr7:86941719-86941720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs74445659	chr7:86941763-86941764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs193287929	chr7:86941802-86941803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369453025	chr7:86941812-86941813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544663984	chr7:86941813-86941814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563412962	chr7:86941902-86941903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs185522336	chr7:86941944-86941945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190427315	chr7:86941976-86941977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569926496	chr7:86941977-86941978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531065756	chr7:86941994-86941995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374434363	chr7:86942002-86942003	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549289636	chr7:86942016-86942017	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76516615	chr7:86942051-86942052	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112306522	chr7:86942184-86942185	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150880005	chr7:86942255-86942256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560710257	chr7:86942264-86942265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181739330	chr7:86942309-86942310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539886198	chr7:86942348-86942349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185714986	chr7:86942363-86942364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556837079	chr7:86942419-86942420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139333572	chr7:86942477-86942478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74608797	chr7:86942525-86942526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554916178	chr7:86942543-86942544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573206155	chr7:86942552-86942553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86940000-86941600	Enhancers	Fetal Intestine Small	intestine
2	chr7:86940400-86946000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:86940600-86941200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:86940600-86941800	Enhancers	HepG2	liver
5	chr7:86940600-86956400	Weak transcription	Fetal Intestine Large	intestine
6	chr7:86940800-86945600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:86941200-86942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:86941800-86942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:86941800-86945800	Weak transcription	HepG2	liver
10	chr7:86942000-86942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:86944800-86952400	Weak transcription	Pancreas	Pancrea
12	chr7:86945400-86945600	Enhancers	GM12878-XiMat	blood
13	chr7:86945400-86945800	Enhancers	NHEK	skin
14	chr7:86945400-86946400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:86945400-86946600	Enhancers	HMEC	breast
16	chr7:86945400-86947600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:86945400-86948000	Enhancers	Hela-S3	cervix
18	chr7:86945400-86948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:86945600-86945800	Enhancers	Esophagus	oesophagus
20	chr7:86945600-86945800	Enhancers	Lung	lung
21	chr7:86945600-86946000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:86945600-86946000	Enhancers	A549	lung
23	chr7:86945600-86946000	Flanking Active TSS	GM12878-XiMat	blood
24	chr7:86945600-86946400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:86945600-86946400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:86945600-86946600	Enhancers	NHLF	lung
27	chr7:86945600-86946800	Enhancers	Osteobl	bone
28	chr7:86945600-86947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:86945600-86947000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:86945600-86947200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:86945600-86947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:86945600-86947400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:86945600-86947400	Enhancers	NHDF-Ad	bronchial
34	chr7:86945600-86949000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:86945800-86946000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:86945800-86946200	Flanking Active TSS	NHEK	skin
37	chr7:86945800-86946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:86945800-86946400	Weak transcription	Esophagus	oesophagus
39	chr7:86945800-86946600	Weak transcription	Lung	lung
40	chr7:86945800-86946800	Enhancers	HUVEC	blood vessel
41	chr7:86945800-86946800	Enhancers	NH-A	brain
42	chr7:86945800-86948200	Enhancers	HepG2	liver
43	chr7:86946000-86946200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr7:86946000-86946600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:86946000-86946800	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:86946000-86946800	Flanking Active TSS	A549	lung
47	chr7:86946000-86947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:86946000-86947200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:86946000-86947400	Enhancers	GM12878-XiMat	blood
50	chr7:86946200-86946400	Enhancers	Muscle Satellite Cultured Cells	--

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