Variant report

Variant	nsv972923
Chromosome Location	chr11:46440729-46443184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:46442812-46443109	K562	blood:	n/a	n/a
2	CUX1	chr11:46443053-46443232	K562	blood:	n/a	n/a
3	EP300	chr11:46442819-46443094	K562	blood:	n/a	n/a
4	HNF4A	chr11:46442834-46442984	HepG2	liver:	n/a	n/a
5	JUND	chr11:46442796-46443103	K562	blood:	n/a	n/a
6	MAZ	chr11:46442923-46443139	K562	blood:	n/a	n/a
7	MYC	chr11:46442914-46443053	K562	blood:	n/a	n/a
8	MYC	chr11:46442838-46443140	K562	blood:	n/a	n/a
9	NFIC	chr11:46442796-46443064	HepG2	liver:	n/a	n/a
10	NR2F2	chr11:46442807-46443195	K562	blood:	n/a	n/a
11	POLR2A	chr11:46442056-46442069	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:46442926-46443146	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:46441446-46441624	HepG2	liver:	n/a	n/a
14	RCOR1	chr11:46442812-46443371	K562	blood:	n/a	n/a
15	TEAD4	chr11:46442712-46443393	K562	blood:	n/a	n/a
16	UBTF	chr11:46442864-46443052	K562	blood:	n/a	n/a
17	ZMIZ1	chr11:46442818-46442974	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46441415..46443647-chr11:46446607..46450426,5	K562	blood:
2	chr11:46424684..46426472-chr11:46440604..46442113,2	K562	blood:
3	chr11:46440995..46443504-chr11:46446202..46449083,2	MCF-7	breast:

No data

Variant related genes	Relation type
AMBRA1	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552577381	chr11:46440762-46440763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115952800	chr11:46440786-46440787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538501323	chr11:46440821-46440822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190111119	chr11:46440861-46440862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574978403	chr11:46440889-46440890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11038891	chr11:46440905-46440906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146364394	chr11:46440952-46440953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199835892	chr11:46440955-46440956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77255340	chr11:46440957-46440958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377532521	chr11:46440992-46440993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534380712	chr11:46440998-46440999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143637805	chr11:46441012-46441013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11825765	chr11:46441038-46441039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572861517	chr11:46441076-46441077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544622960	chr11:46441078-46441079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11828360	chr11:46441085-46441086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564491436	chr11:46441132-46441133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146772605	chr11:46441241-46441242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544139695	chr11:46441287-46441288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140502323	chr11:46441384-46441385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529884454	chr11:46441435-46441436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150419558	chr11:46441438-46441439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532362698	chr11:46441480-46441481	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549415937	chr11:46441482-46441483	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552615050	chr11:46441502-46441503	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181354932	chr11:46441534-46441535	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34070050	chr11:46441545-46441546	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs376263821	chr11:46441546-46441547	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs34219076	chr11:46441547-46441548	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs35662565	chr11:46441548-46441549	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs61437409	chr11:46441571-46441572	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552056667	chr11:46441684-46441685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186314956	chr11:46441701-46441702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371017810	chr11:46441702-46441703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538238319	chr11:46441722-46441723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377177250	chr11:46441741-46441742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562815811	chr11:46441750-46441751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149092457	chr11:46441772-46441773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4433539	chr11:46441780-46441781	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534144701	chr11:46441783-46441784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34840317	chr11:46441791-46441792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190818379	chr11:46441953-46441954	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572605397	chr11:46441970-46441971	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180845432	chr11:46442061-46442062	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs186587569	chr11:46442172-46442173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558219878	chr11:46442194-46442195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574923431	chr11:46442205-46442206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543791673	chr11:46442243-46442244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145924379	chr11:46442272-46442273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574647249	chr11:46442293-46442294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
2	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
3	chr11:46421000-46444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46421000-46447000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:46423400-46444600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
7	chr11:46427000-46442800	Weak transcription	Right Atrium	heart
8	chr11:46427000-46444600	Strong transcription	Lung	lung
9	chr11:46428000-46443800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:46429200-46446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:46430200-46450600	Weak transcription	HUVEC	blood vessel
12	chr11:46430200-46456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:46430600-46451600	Weak transcription	NHDF-Ad	bronchial
14	chr11:46430600-46455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:46433000-46443200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:46433200-46449200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:46433600-46440800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:46433600-46444200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46434200-46442000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:46434200-46444800	Strong transcription	Primary B cells from cord blood	blood
22	chr11:46434600-46441200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:46434600-46444200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:46435000-46446400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:46436400-46450600	Weak transcription	Osteobl	bone
26	chr11:46436400-46454400	Weak transcription	A549	lung
27	chr11:46436600-46443200	Weak transcription	Small Intestine	intestine
28	chr11:46436600-46448600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:46436600-46466400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:46436800-46441200	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:46436800-46442600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:46436800-46442800	Strong transcription	Fetal Intestine Large	intestine
33	chr11:46437000-46452000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:46437200-46449200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:46437200-46452600	Weak transcription	HMEC	breast
36	chr11:46437400-46441800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:46437400-46444600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:46437400-46455000	Weak transcription	Stomach Mucosa	stomach
39	chr11:46437600-46452600	Weak transcription	NH-A	brain
40	chr11:46437800-46442000	Weak transcription	Hela-S3	cervix
41	chr11:46437800-46443600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:46437800-46450600	Weak transcription	HSMM	muscle
43	chr11:46437800-46452400	Weak transcription	Fetal Kidney	kidney
44	chr11:46438000-46444200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:46438000-46461400	Strong transcription	Primary T cells from cord blood	blood
46	chr11:46438200-46442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:46438200-46442800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:46438400-46441600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:46438400-46442000	Weak transcription	HSMMtube	muscle
50	chr11:46438400-46442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links