Variant report

Variant	esv3423666
Chromosome Location	chr7:101250032-101252130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101249674..101252052-chr7:101267585..101269354,2	K562	blood:
2	chr7:101248988..101252731-chr7:101456839..101459495,3	MCF-7	breast:
3	chr7:101244039..101255564-chr7:101454524..101463981,21	MCF-7	breast:
4	chr7:101245631..101247804-chr7:101249820..101253085,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137950117	chr7:101250043-101250044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142271478	chr7:101250056-101250057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386716270	chr7:101250069-101250070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553200519	chr7:101250070-101250071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565952292	chr7:101250106-101250107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540811335	chr7:101250117-101250118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559477241	chr7:101250125-101250126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146164171	chr7:101250141-101250142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77326643	chr7:101250184-101250185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114662931	chr7:101250213-101250214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549550604	chr7:101250249-101250250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577333834	chr7:101250298-101250299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541370489	chr7:101250323-101250324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571037498	chr7:101250340-101250341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559949058	chr7:101250383-101250384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185757056	chr7:101250421-101250422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530324192	chr7:101250469-101250470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569831208	chr7:101250470-101250471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148235884	chr7:101250498-101250499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530546142	chr7:101250536-101250537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141268595	chr7:101250575-101250576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12535019	chr7:101250617-101250618	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111954964	chr7:101250644-101250645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370925615	chr7:101250669-101250670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546583316	chr7:101250672-101250673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568391654	chr7:101250689-101250690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535740298	chr7:101250738-101250739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190126420	chr7:101250747-101250748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538742420	chr7:101250749-101250750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28561887	chr7:101250764-101250765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367976121	chr7:101250767-101250768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537558098	chr7:101250775-101250776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34686240	chr7:101250782-101250783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577368904	chr7:101250821-101250822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572534024	chr7:101250828-101250829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28396527	chr7:101250888-101250889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201988551	chr7:101250964-101250965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554239067	chr7:101250965-101250966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149598075	chr7:101250972-101250973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13247534	chr7:101250974-101250975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574825588	chr7:101250976-101250977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542092467	chr7:101250982-101250983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148884020	chr7:101251037-101251038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377127078	chr7:101251038-101251039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199946182	chr7:101251052-101251053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs55708010	chr7:101251054-101251055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs55662293	chr7:101251055-101251056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376865909	chr7:101251069-101251070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115813336	chr7:101251143-101251144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143687460	chr7:101251159-101251160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	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
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101242800-101251600	Weak transcription	Gastric	stomach
2	chr7:101245600-101250600	Enhancers	Placenta	Placenta
3	chr7:101246400-101251600	Weak transcription	Stomach Mucosa	stomach
4	chr7:101246400-101251800	Weak transcription	Pancreas	Pancrea
5	chr7:101246400-101252000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:101246400-101252000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:101246600-101251600	Weak transcription	HMEC	breast
8	chr7:101246600-101251800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:101246600-101252000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:101247800-101250200	Enhancers	Fetal Muscle Leg	muscle
11	chr7:101248400-101250400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:101248600-101250400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:101249200-101251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:101249200-101252000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:101249600-101251800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:101250000-101251600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:101250400-101251600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:101250400-101251600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:101250600-101251600	Weak transcription	Placenta	Placenta
20	chr7:101251000-101252000	Weak transcription	Fetal Intestine Large	intestine
21	chr7:101251600-101252000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr7:101251600-101252600	Enhancers	Gastric	stomach
23	chr7:101251600-101252600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:101251600-101252800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:101251600-101252800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:101251600-101252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:101251600-101252800	Enhancers	Placenta	Placenta
28	chr7:101251600-101252800	Enhancers	Stomach Mucosa	stomach
29	chr7:101251600-101252800	Enhancers	HMEC	breast
30	chr7:101251800-101252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:101251800-101252800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:101251800-101252800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:101251800-101252800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:101251800-101252800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:101251800-101252800	Enhancers	Pancreas	Pancrea
36	chr7:101251800-101252800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr7:101252000-101252400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:101252000-101252600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:101252000-101252600	Enhancers	Fetal Intestine Small	intestine
40	chr7:101252000-101252800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:101252000-101252800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr7:101252000-101252800	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:101252000-101252800	Enhancers	Esophagus	oesophagus
44	chr7:101252000-101252800	Enhancers	Fetal Intestine Large	intestine

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