Variant report

Variant	esv3335926
Chromosome Location	chr7:97981816-97984014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97924619..97926300-chr7:97982191..97983995,2	MCF-7	breast:
2	chr7:97981229..97983769-chr7:97985673..97988919,4	MCF-7	breast:
3	chr7:97973522..97975312-chr7:97980531..97983134,2	MCF-7	breast:
4	chr7:97982441..97984105-chr7:98028330..98030709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006453	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570521359	chr7:97981820-97981821	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534542361	chr7:97981910-97981911	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546760536	chr7:97981923-97981924	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368735531	chr7:97981998-97981999	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141309556	chr7:97982004-97982005	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116013648	chr7:97982013-97982014	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145035103	chr7:97982049-97982050	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575669547	chr7:97982076-97982077	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138786877	chr7:97982077-97982078	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561515058	chr7:97982083-97982084	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs6465675	chr7:97982103-97982104	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs149411042	chr7:97982228-97982229	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188820111	chr7:97982242-97982243	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573997529	chr7:97982268-97982269	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544463157	chr7:97982271-97982272	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75530627	chr7:97982272-97982273	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78197244	chr7:97982361-97982362	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558792875	chr7:97982471-97982472	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552127208	chr7:97982508-97982509	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6465676	chr7:97982542-97982543	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528155884	chr7:97982603-97982604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546501755	chr7:97982610-97982611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181527640	chr7:97982630-97982631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150885218	chr7:97982637-97982638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535757569	chr7:97982681-97982682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556138831	chr7:97982716-97982717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7802959	chr7:97982749-97982750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7783843	chr7:97982751-97982752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571949319	chr7:97982758-97982759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531651623	chr7:97982795-97982796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529179441	chr7:97982798-97982799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12704985	chr7:97982846-97982847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550935490	chr7:97982925-97982926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569170848	chr7:97983045-97983046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187068007	chr7:97983086-97983087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191808775	chr7:97983087-97983088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544247622	chr7:97983097-97983098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184092230	chr7:97983101-97983102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144567208	chr7:97983109-97983110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555549637	chr7:97983135-97983136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573933385	chr7:97983143-97983144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544396658	chr7:97983229-97983230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72389910	chr7:97983274-97983275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200136060	chr7:97983282-97983283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200909688	chr7:97983283-97983284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550502280	chr7:97983311-97983312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72444648	chr7:97983325-97983326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562869003	chr7:97983340-97983341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577899919	chr7:97983401-97983402	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545499871	chr7:97983420-97983421	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97944800-97983400	Weak transcription	HepG2	liver
2	chr7:97953800-97989800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:97954400-97983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:97966800-97983800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:97968000-97982000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:97968400-97983600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:97972400-97983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:97973000-97987000	Weak transcription	Liver	Liver
9	chr7:97973000-97989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:97973200-97984000	Weak transcription	Pancreas	Pancrea
11	chr7:97973200-97989600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:97973600-97983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:97977200-98010200	Weak transcription	GM12878-XiMat	blood
14	chr7:97978000-97985200	Enhancers	Placenta	Placenta
15	chr7:97978400-97982000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:97978400-97983400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:97978400-97983400	Weak transcription	Esophagus	oesophagus
18	chr7:97978600-97982200	Strong transcription	Fetal Intestine Small	intestine
19	chr7:97978600-97983800	Weak transcription	Lung	lung
20	chr7:97979400-97989600	Weak transcription	K562	blood
21	chr7:97979800-97982200	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:97979800-97983400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:97980000-97983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:97980600-97982800	Enhancers	Stomach Mucosa	stomach
25	chr7:97981000-97982400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:97981000-97983400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:97981000-97988600	Weak transcription	Fetal Stomach	stomach
28	chr7:97981200-97982800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:97981200-97983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:97981200-97983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:97981200-97983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:97981200-97983800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:97981400-97982000	Genic enhancers	NHEK	skin
34	chr7:97981400-97982800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:97981400-97982800	Enhancers	Fetal Intestine Large	intestine
36	chr7:97981400-97982800	Enhancers	Hela-S3	cervix
37	chr7:97981400-97983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:97981600-97982000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:97981600-97982200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:97981600-97982200	Enhancers	Osteobl	bone
41	chr7:97981600-97982600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:97981600-97982600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:97981600-97982600	Flanking Active TSS	A549	lung
44	chr7:97981600-97982800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:97981600-97982800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:97981600-97982800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:97981600-97982800	Enhancers	HMEC	breast
48	chr7:97981800-97982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:97981800-97982000	Enhancers	Gastric	stomach
50	chr7:97981800-97982000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links