Variant report

Variant	esv2761345
Chromosome Location	chr7:85104681-85187726
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84670622..84671190-chr7:85183449..85184130,2	MCF-7	breast:
2	chr7:85109548..85112253-chr7:85116384..85119002,2	K562	blood:
3	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:
4	chr7:85109548..85112253-chr7:85116384..85119002,2	K562	blood:
5	chr7:84659480..84660360-chr7:85183314..85184162,2	MCF-7	breast:
6	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:
7	chr7:84671065..84671572-chr7:85183760..85184324,2	MCF-7	breast:
8	chr7:85111683..85113494-chr7:85114215..85116329,2	MCF-7	breast:
9	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
10	chr7:85111683..85113494-chr7:85114215..85116329,2	MCF-7	breast:
11	chr7:85134714..85136666-chr7:85145066..85147658,2	K562	blood:
12	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:
13	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:
14	chr7:85134714..85136666-chr7:85145066..85147658,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM3-1	chr7:85118198-85118609	XLOC_006160
2	lnc-GRM3-1	chr7:85118198-85118548	XLOC_006160

No data

Variant related genes	Relation type
ENSG00000153993	chromatin interactions
FAM135A	miRNA target sites

Extended variants
information (count: 2075 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575113601	chr7:85104681-85104682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117601803	chr7:85104764-85104765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190623693	chr7:85104792-85104793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7790845	chr7:85104824-85104825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372326816	chr7:85104826-85104827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540047281	chr7:85104862-85104863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550204805	chr7:85104880-85104881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564702905	chr7:85104911-85104912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2463671	chr7:85104928-85104929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544285097	chr7:85104968-85104969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138248277	chr7:85104970-85104971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182805822	chr7:85105028-85105029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548517689	chr7:85105085-85105086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567063502	chr7:85105110-85105111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527955343	chr7:85105143-85105144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552827938	chr7:85105154-85105155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571038628	chr7:85105157-85105158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538771578	chr7:85105169-85105170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531300307	chr7:85105181-85105182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557081516	chr7:85105228-85105229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188082700	chr7:85105243-85105244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190950225	chr7:85105311-85105312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183161044	chr7:85105390-85105391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114811254	chr7:85105411-85105412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34689390	chr7:85105460-85105461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112961640	chr7:85105480-85105481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187407737	chr7:85105482-85105483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72017678	chr7:85105483-85105484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs36035267	chr7:85105492-85105493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184572756	chr7:85105526-85105527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187891254	chr7:85105557-85105558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576620306	chr7:85105558-85105559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551747061	chr7:85105560-85105561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565042345	chr7:85105567-85105568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62459667	chr7:85105568-85105569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569433993	chr7:85105589-85105590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192474221	chr7:85105600-85105601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142576645	chr7:85105682-85105683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560513682	chr7:85105693-85105694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146903048	chr7:85105708-85105709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552891134	chr7:85105709-85105710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184451793	chr7:85105809-85105810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189427882	chr7:85105810-85105811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531936363	chr7:85105878-85105879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550300229	chr7:85105904-85105905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71560731	chr7:85105905-85105906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145194930	chr7:85105920-85105921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147762366	chr7:85105931-85105932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56768747	chr7:85105943-85105944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61135954	chr7:85105944-85105945	Weak transcription	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85101200-85109400	Weak transcription	NHLF	lung
2	chr7:85103400-85106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:85104400-85105800	Enhancers	HepG2	liver
4	chr7:85106600-85109000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:85107800-85108400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:85108000-85108400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:85109000-85109200	Weak transcription	Fetal Lung	lung
8	chr7:85109200-85109400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:85109200-85109400	Enhancers	Fetal Lung	lung
10	chr7:85109200-85109400	Enhancers	NHDF-Ad	bronchial
11	chr7:85109400-85109800	Flanking Active TSS	Fetal Lung	lung
12	chr7:85109400-85109800	Flanking Active TSS	NHDF-Ad	bronchial
13	chr7:85109400-85110000	Enhancers	NHLF	lung
14	chr7:85109400-85110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:85109400-85110400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:85109400-85113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:85109600-85110000	Enhancers	Brain Germinal Matrix	brain
18	chr7:85109800-85110000	Enhancers	Fetal Lung	lung
19	chr7:85109800-85110400	Enhancers	NHDF-Ad	bronchial
20	chr7:85110000-85110200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:85110000-85111200	Weak transcription	Fetal Lung	lung
22	chr7:85110000-85111600	Weak transcription	NHLF	lung
23	chr7:85110200-85111600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:85110200-85112600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:85110400-85111400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:85110400-85111600	Weak transcription	NHDF-Ad	bronchial
27	chr7:85111200-85113200	Enhancers	Fetal Lung	lung
28	chr7:85111400-85112400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:85111600-85111800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:85111600-85111800	Enhancers	NHLF	lung
31	chr7:85111600-85113400	Enhancers	NHDF-Ad	bronchial
32	chr7:85111800-85112200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:85111800-85112200	Weak transcription	NHLF	lung
34	chr7:85112200-85113200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:85112600-85112800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:85113400-85118800	Weak transcription	NHDF-Ad	bronchial
37	chr7:85113800-85118800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:85115200-85115400	Enhancers	Fetal Lung	lung
39	chr7:85118800-85119200	Enhancers	NHDF-Ad	bronchial
40	chr7:85118800-85119400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:85118800-85119400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:85118800-85119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:85118800-85119600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:85119000-85119600	Enhancers	NHLF	lung
45	chr7:85119200-85119600	Enhancers	NH-A	brain
46	chr7:85119200-85119600	Enhancers	Osteobl	bone
47	chr7:85125800-85126200	Enhancers	Fetal Lung	lung
48	chr7:85126000-85126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:85126200-85127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:85126200-85127200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links