Variant report

Variant	nsv981816
Chromosome Location	chr7:104946637-104948803
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104948405..104951039-chr7:105028553..105030252,2	MCF-7	breast:
2	chr7:104940444..104942808-chr7:104944871..104946727,2	MCF-7	breast:
3	chr7:104935027..104937759-chr7:104947845..104950749,2	K562	blood:
4	chr7:104944150..104946367-chr7:104948630..104950865,4	MCF-7	breast:
5	chr7:104945506..104947169-chr7:104948934..104951564,2	MCF-7	breast:
6	chr7:104944940..104946853-chr7:104951503..104953129,2	MCF-7	breast:
7	chr7:104935439..104938791-chr7:104944886..104947910,3	MCF-7	breast:
8	chr7:104651722..104654258-chr7:104946708..104948409,2	K562	blood:
9	chr7:104945324..104947368-chr7:104952699..104954590,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLL5-1	chr7:104946699-104947089	ENSG00000242154.1

No data

Variant related genes	Relation type
ENSG00000244490	chromatin interactions
ENSG00000242154	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569556073	chr7:104946699-104946700	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs538177248	chr7:104946811-104946812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs565385012	chr7:104946818-104946819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs558015453	chr7:104946831-104946832	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs570155214	chr7:104946842-104946843	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs539046119	chr7:104946848-104946849	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs187382476	chr7:104946860-104946861	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs192156290	chr7:104946864-104946865	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs572813186	chr7:104946912-104946913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs535658179	chr7:104946929-104946930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs532607805	chr7:104946931-104946932	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs376513804	chr7:104946932-104946933	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs555298525	chr7:104946941-104946942	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs575379075	chr7:104947003-104947004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs544556812	chr7:104947005-104947006	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs564367863	chr7:104947052-104947053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs578071225	chr7:104947053-104947054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs533335425	chr7:104947058-104947059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs139958955	chr7:104947089-104947090	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs184628326	chr7:104947099-104947100	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551033689	chr7:104947116-104947117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549427842	chr7:104947117-104947118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114418334	chr7:104947121-104947122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189898866	chr7:104947167-104947168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12534381	chr7:104947195-104947196	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs571602513	chr7:104947256-104947257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180800601	chr7:104947282-104947283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73716652	chr7:104947291-104947292	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573287425	chr7:104947299-104947300	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566438620	chr7:104947341-104947342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535214858	chr7:104947394-104947395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370815285	chr7:104947414-104947415	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555401849	chr7:104947436-104947437	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184677921	chr7:104947455-104947456	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575514320	chr7:104947456-104947457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538036889	chr7:104947482-104947483	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189296809	chr7:104947552-104947553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs17721991	chr7:104947553-104947554	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs540650301	chr7:104947610-104947611	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73409861	chr7:104947613-104947614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573943789	chr7:104947664-104947665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147506286	chr7:104947702-104947703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73409864	chr7:104947706-104947707	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558924490	chr7:104947734-104947735	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531830209	chr7:104947775-104947776	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181760281	chr7:104947776-104947777	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116888312	chr7:104947795-104947796	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528002195	chr7:104947797-104947798	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548037860	chr7:104947827-104947828	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566356098	chr7:104947911-104947912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:104939200-104954400	Weak transcription	Stomach Mucosa	stomach
3	chr7:104939400-104950200	Weak transcription	Psoas Muscle	Psoas
4	chr7:104939400-104950200	Weak transcription	Right Atrium	heart
5	chr7:104939600-104947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104939600-104950200	Weak transcription	Gastric	stomach
7	chr7:104939600-104950200	Weak transcription	Pancreas	Pancrea
8	chr7:104939600-104966200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:104939800-104950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:104939800-104950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:104940800-104949200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104942000-104950200	Weak transcription	Esophagus	oesophagus
13	chr7:104942000-104953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:104944400-104947400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:104944400-104950800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:104944600-104950600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:104945000-104948000	Enhancers	Fetal Thymus	thymus
18	chr7:104945000-104950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:104945000-104950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:104945000-104950400	Weak transcription	Aorta	Aorta
21	chr7:104945200-104946800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:104945200-104947400	Weak transcription	Thymus	Thymus
23	chr7:104945200-104947600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:104945200-104948400	Weak transcription	Adipose Nuclei	Adipose
25	chr7:104945200-104949200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:104945200-104949400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:104945200-104949400	Weak transcription	HSMMtube	muscle
28	chr7:104945200-104949800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:104945200-104950200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:104945200-104950200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:104945200-104950200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:104945200-104950200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:104945200-104950400	Weak transcription	HSMM	muscle
34	chr7:104945400-104946800	Enhancers	HepG2	liver
35	chr7:104945400-104947200	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:104945400-104947400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:104945400-104948400	Weak transcription	Brain Angular Gyrus	brain
38	chr7:104945400-104949800	Enhancers	GM12878-XiMat	blood
39	chr7:104945400-104950000	Weak transcription	A549	lung
40	chr7:104945400-104950000	Weak transcription	NHDF-Ad	bronchial
41	chr7:104945400-104950000	Weak transcription	NHLF	lung
42	chr7:104945400-104950200	Weak transcription	Fetal Lung	lung
43	chr7:104945400-104950600	Enhancers	Brain Substantia Nigra	brain
44	chr7:104945400-104950800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:104945400-104951000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:104945400-104953000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:104945400-104954400	Weak transcription	NHEK	skin
48	chr7:104945400-104972600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:104945600-104950200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:104945600-104950600	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links