Variant report

Variant	nsv1021810
Chromosome Location	chr7:85148963-85194663
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84670622..84671190-chr7:85183449..85184130,2	MCF-7	breast:
2	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
3	chr7:84659480..84660360-chr7:85183314..85184162,2	MCF-7	breast:
4	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:
5	chr12:7024083..7024583-chr7:85192420..85193063,2	MCF-7	breast:
6	chr7:84671065..84671572-chr7:85183760..85184324,2	MCF-7	breast:
7	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:
8	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111674	chromatin interactions
ENSG00000153993	chromatin interactions

Extended variants
information (count: 1140 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1140 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7807771	chr7:85148963-85148964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138609564	chr7:85149003-85149004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371522669	chr7:85149029-85149030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113578653	chr7:85149125-85149126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59058002	chr7:85149173-85149174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59069175	chr7:85149177-85149178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558745705	chr7:85149180-85149181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142098994	chr7:85149184-85149185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397783236	chr7:85149190-85149191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200605920	chr7:85149191-85149192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34918878	chr7:85149260-85149261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367777220	chr7:85149316-85149317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56210213	chr7:85149325-85149326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149187467	chr7:85149353-85149354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553062471	chr7:85149354-85149355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560751846	chr7:85149460-85149461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143324298	chr7:85149473-85149474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182316990	chr7:85149504-85149505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559837997	chr7:85149572-85149573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111673366	chr7:85149592-85149593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371499314	chr7:85149593-85149594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554325280	chr7:85149635-85149636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575850632	chr7:85149677-85149678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6959166	chr7:85149695-85149696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561947236	chr7:85149781-85149782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529149077	chr7:85149874-85149875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34355965	chr7:85149886-85149887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541334873	chr7:85149921-85149922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537621113	chr7:85149990-85149991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570209524	chr7:85150010-85150011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559045183	chr7:85150070-85150071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537267882	chr7:85150105-85150106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556308215	chr7:85150129-85150130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114350248	chr7:85150135-85150136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569401342	chr7:85150227-85150228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141551335	chr7:85150259-85150260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528016445	chr7:85150294-85150295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574641720	chr7:85150326-85150327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370164160	chr7:85150361-85150362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186541926	chr7:85150372-85150373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567868979	chr7:85150419-85150420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192036239	chr7:85150420-85150421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60781441	chr7:85150447-85150448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183893294	chr7:85150451-85150452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539029128	chr7:85150460-85150461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567627254	chr7:85150600-85150601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7778332	chr7:85150605-85150606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147539174	chr7:85150676-85150677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555237843	chr7:85150754-85150755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541348347	chr7:85150772-85150773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	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
Breast cancer	21611746	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85146400-85150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:85146600-85150600	Weak transcription	Fetal Kidney	kidney
3	chr7:85149200-85150600	Enhancers	Fetal Lung	lung
4	chr7:85149600-85150000	Enhancers	Fetal Stomach	stomach
5	chr7:85150000-85150400	Weak transcription	Fetal Stomach	stomach
6	chr7:85150400-85151000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:85150400-85151000	Enhancers	Fetal Stomach	stomach
8	chr7:85150400-85151000	Enhancers	NHLF	lung
9	chr7:85150600-85150800	Flanking Active TSS	Fetal Lung	lung
10	chr7:85150600-85151000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:85150600-85151000	Enhancers	Fetal Heart	heart
12	chr7:85150800-85151000	Enhancers	Fetal Kidney	kidney
13	chr7:85150800-85151000	Enhancers	Fetal Lung	lung
14	chr7:85150800-85151000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:85150800-85151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:85150800-85151200	Enhancers	Small Intestine	intestine
17	chr7:85151000-85151200	Flanking Active TSS	Fetal Lung	lung
18	chr7:85151000-85154800	Weak transcription	NHLF	lung
19	chr7:85151200-85152600	Enhancers	Fetal Lung	lung
20	chr7:85151200-85158000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:85152600-85155000	Weak transcription	Fetal Lung	lung
22	chr7:85153400-85153800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:85154800-85155000	Enhancers	NHLF	lung
24	chr7:85155000-85155400	Enhancers	Fetal Lung	lung
25	chr7:85155000-85155600	Weak transcription	NHLF	lung
26	chr7:85155400-85155600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:85155400-85158000	Weak transcription	Fetal Lung	lung
28	chr7:85155600-85155800	Enhancers	NHLF	lung
29	chr7:85155600-85156000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:85155600-85157800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:85155800-85157800	Weak transcription	NHLF	lung
32	chr7:85155800-85158000	Weak transcription	Small Intestine	intestine
33	chr7:85157600-85158200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:85157600-85158600	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:85157800-85158000	Weak transcription	NHDF-Ad	bronchial
36	chr7:85157800-85158800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:85157800-85159400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:85157800-85159800	Enhancers	NHLF	lung
39	chr7:85158000-85158200	Enhancers	Small Intestine	intestine
40	chr7:85158000-85158400	Enhancers	NHDF-Ad	bronchial
41	chr7:85158000-85158800	Enhancers	Fetal Lung	lung
42	chr7:85158000-85159600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:85158000-85160000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:85158200-85158800	Enhancers	Fetal Stomach	stomach
45	chr7:85158200-85158800	Weak transcription	Small Intestine	intestine
46	chr7:85158200-85159200	Enhancers	Adipose Nuclei	Adipose
47	chr7:85158200-85159600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:85158200-85159600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:85158200-85159800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:85158400-85158800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links