Variant report

Variant	nsv514436
Chromosome Location	chr7:104465468-104476468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:104467627-104467677	Fibrobl	skin:	n/a	n/a
2	GATA1	chr7:104465552-104466314	PBDE	blood:	n/a	chr7:104465684-104465693
3	GATA3	chr7:104475298-104475313	SH-SY5Y	brain:	n/a	n/a
4	NFYB	chr7:104466150-104466195	GM12878	blood:	n/a	n/a
5	NRF1	chr7:104475289-104475295	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:104472266-104472751	K562	blood:	n/a	n/a
7	POLR2A	chr7:104473393-104473416	K562	blood:	n/a	n/a
8	POLR2A	chr7:104476388-104476555	K562	blood:	n/a	n/a
9	POLR2A	chr7:104474897-104475552	K562	blood:	n/a	n/a
10	RCOR1	chr7:104466654-104466987	K562	blood:	n/a	n/a
11	REST	chr7:104466036-104466251	K562	blood:	n/a	n/a
12	REST	chr7:104466043-104466209	H1-hESC	embryonic stem cell:	n/a	n/a
13	RFX5	chr7:104471608-104471616	K562	blood:	n/a	n/a
14	TAL1	chr7:104466625-104466908	K562	blood:	n/a	n/a
15	TEAD4	chr7:104466557-104466917	K562	blood:	n/a	n/a
16	ZNF274	chr7:104465157-104465877	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:
2	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572

No data

Variant related genes	Relation type
ENSG00000237606	TF binding region

Extended variants
information (count: 462 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532848784	chr7:104465482-104465483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540363225	chr7:104465491-104465492	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149405605	chr7:104465503-104465504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553727812	chr7:104465593-104465594	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs79630340	chr7:104465608-104465609	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563626674	chr7:104465697-104465698	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73417622	chr7:104465758-104465759	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375812394	chr7:104465789-104465790	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569188673	chr7:104465825-104465826	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79154875	chr7:104465827-104465828	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369043654	chr7:104465880-104465881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79806122	chr7:104465912-104465913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs117533877	chr7:104465940-104465941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78686148	chr7:104466047-104466048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567720513	chr7:104466088-104466089	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531153135	chr7:104466112-104466113	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536870179	chr7:104466122-104466123	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556414419	chr7:104466181-104466182	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576306959	chr7:104466188-104466189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538982753	chr7:104466221-104466222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543343133	chr7:104466247-104466248	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2470968	chr7:104466280-104466281	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561471491	chr7:104466298-104466299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577266325	chr7:104466311-104466312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539901053	chr7:104466339-104466340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369443446	chr7:104466396-104466397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560202565	chr7:104466432-104466433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186987423	chr7:104466464-104466465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549890361	chr7:104466542-104466543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143757520	chr7:104466545-104466546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562697993	chr7:104466573-104466574	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs531619010	chr7:104466616-104466617	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs13233998	chr7:104466675-104466676	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565272968	chr7:104466688-104466689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527698201	chr7:104466692-104466693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377683318	chr7:104466807-104466808	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs112396057	chr7:104466812-104466813	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547542413	chr7:104466830-104466831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs567771210	chr7:104466839-104466840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs546732146	chr7:104466840-104466841	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs148231982	chr7:104466854-104466855	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540086110	chr7:104466927-104466928	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549947982	chr7:104466940-104466941	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4073894	chr7:104466964-104466965	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
45	rs538944110	chr7:104467010-104467011	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs558827094	chr7:104467037-104467038	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs141610243	chr7:104467055-104467056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191828441	chr7:104467063-104467064	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs553557575	chr7:104467071-104467072	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs183560804	chr7:104467080-104467081	Weak transcription	lncRNA	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
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
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104460400-104465600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:104461000-104470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:104461400-104465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:104462800-104467000	Weak transcription	Fetal Heart	heart
6	chr7:104465600-104465800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:104465600-104466000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:104465600-104466200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:104466000-104486800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:104474800-104475200	Enhancers	Pancreas	Pancrea
11	chr7:104476400-104503000	Weak transcription	Duodenum Mucosa	Duodenum

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