Variant report

Variant	esv3371832
Chromosome Location	chr7:140352483-140356781
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140175323..140176224-chr7:140353090..140353829,3	MCF-7	breast:
2	chr7:140216203..140218694-chr7:140353097..140355919,3	MCF-7	breast:
3	chr7:140353438..140355331-chr7:140361496..140363053,2	K562	blood:
4	chr7:140304917..140305573-chr7:140352877..140353424,2	MCF-7	breast:
5	chr7:140217266..140218508-chr7:140352702..140354109,29	MCF-7	breast:
6	chr7:140345066..140345636-chr7:140356500..140357064,2	K562	blood:
7	chr7:140217465..140218703-chr7:140352465..140353922,9	MCF-7	breast:
8	chr7:140174451..140177169-chr7:140352584..140355463,2	MCF-7	breast:
9	chr7:140217094..140218389-chr7:140352924..140354007,12	K562	blood:
10	chr7:140216273..140216881-chr7:140352919..140353865,2	K562	blood:
11	chr7:140175272..140176552-chr7:140352943..140353862,4	K562	blood:
12	chr7:140178651..140180192-chr7:140355165..140357429,2	MCF-7	breast:
13	chr7:140356234..140358588-chr7:140371842..140375478,4	MCF-7	breast:
14	chr7:140352705..140358390-chr7:140370477..140374283,7	MCF-7	breast:
15	chr7:140176559..140178160-chr7:140351087..140353237,2	K562	blood:
16	chr7:140347403..140349071-chr7:140352045..140353998,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133606	chromatin interactions
ENSG00000133597	chromatin interactions
ENSG00000146966	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112231277	chr7:140352498-140352499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564120446	chr7:140352520-140352521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576482854	chr7:140352563-140352564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543520829	chr7:140352637-140352638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142520705	chr7:140352638-140352639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201204371	chr7:140352649-140352650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199600130	chr7:140352650-140352651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539810616	chr7:140352655-140352656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60566606	chr7:140352664-140352665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57010941	chr7:140352706-140352707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529279781	chr7:140352754-140352755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375844650	chr7:140352755-140352756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547373103	chr7:140352762-140352763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs59507684	chr7:140352771-140352772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559661146	chr7:140352801-140352802	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546821632	chr7:140352814-140352815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561826832	chr7:140352832-140352833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112641451	chr7:140352873-140352874	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188310556	chr7:140352896-140352897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570110837	chr7:140352899-140352900	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143791912	chr7:140352910-140352911	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181130906	chr7:140352944-140352945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550823938	chr7:140352975-140352976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576373168	chr7:140352992-140352993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371331777	chr7:140352995-140352996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568139315	chr7:140353071-140353072	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186517014	chr7:140353089-140353090	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369407324	chr7:140353106-140353107	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147256204	chr7:140353153-140353154	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35420966	chr7:140353161-140353162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs35756087	chr7:140353172-140353173	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35463085	chr7:140353178-140353179	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553791229	chr7:140353211-140353212	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115951957	chr7:140353279-140353280	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs269234	chr7:140353308-140353309	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539855595	chr7:140353331-140353332	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551474411	chr7:140353344-140353345	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566670614	chr7:140353349-140353350	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs148742969	chr7:140353352-140353353	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543584077	chr7:140353434-140353435	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191834905	chr7:140353537-140353538	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555549200	chr7:140353592-140353593	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573787569	chr7:140353743-140353744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545441846	chr7:140353746-140353747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541073522	chr7:140353772-140353773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141483978	chr7:140353814-140353815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533688835	chr7:140353820-140353821	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs73503797	chr7:140353831-140353832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs563926979	chr7:140353850-140353851	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531040647	chr7:140353882-140353883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140341600-140353000	Weak transcription	Ovary	ovary
2	chr7:140341800-140355800	Weak transcription	Right Atrium	heart
3	chr7:140347000-140355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:140347200-140353000	Weak transcription	Fetal Stomach	stomach
5	chr7:140347400-140353000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:140347400-140353000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:140347400-140353000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:140347400-140353000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:140347600-140353000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:140347600-140353000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:140347600-140353000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:140347600-140353000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:140347600-140353000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:140347600-140353000	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:140347600-140353000	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:140347600-140353000	Weak transcription	Fetal Kidney	kidney
17	chr7:140347600-140353000	Weak transcription	Fetal Lung	lung
18	chr7:140347600-140353000	Weak transcription	NHLF	lung
19	chr7:140347600-140353200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:140347600-140353200	Weak transcription	Brain Substantia Nigra	brain
21	chr7:140347800-140353000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:140349200-140353400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:140349600-140355400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:140349600-140355400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:140349800-140353000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:140349800-140353000	Weak transcription	Osteobl	bone
27	chr7:140350000-140353000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:140350400-140352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:140350600-140353000	Weak transcription	Left Ventricle	heart
30	chr7:140350600-140353000	Weak transcription	Right Ventricle	heart
31	chr7:140351200-140353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:140351200-140354200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:140351600-140353000	Weak transcription	A549	lung
34	chr7:140351600-140353200	Weak transcription	Stomach Mucosa	stomach
35	chr7:140351800-140352800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:140351800-140353000	Weak transcription	Fetal Heart	heart
37	chr7:140351800-140353000	Weak transcription	NHEK	skin
38	chr7:140351800-140356000	Weak transcription	HMEC	breast
39	chr7:140351800-140356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:140351800-140358000	Weak transcription	Gastric	stomach
41	chr7:140352000-140353000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:140352000-140353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:140352000-140356000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:140352400-140352800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:140352400-140352800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:140352400-140353400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:140352800-140353000	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:140352800-140353400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:140352800-140353600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:140353000-140353200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links