Variant report

Variant	nsv971972
Chromosome Location	chr11:3912145-3914763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:3913578-3913638	K562	blood:	n/a	n/a
2	BCL11A	chr11:3912048-3912291	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:3913553-3913586	K562	blood:	n/a	n/a
4	CBX3	chr11:3913382-3913800	K562	blood:	n/a	n/a
5	CCNT2	chr11:3913168-3913359	K562	blood:	n/a	n/a
6	CEBPB	chr11:3914664-3914947	HepG2	liver:	n/a	n/a
7	CUX1	chr11:3914699-3914950	GM12878	blood:	n/a	n/a
8	EBF1	chr11:3911959-3912351	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
9	EBF1	chr11:3911933-3912427	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
10	EBF1	chr11:3914590-3914823	GM12878	blood:	n/a	n/a
11	EBF1	chr11:3911970-3912376	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
12	EP300	chr11:3913073-3913673	K562	blood:	n/a	chr11:3913428-3913442
13	ESRRA	chr11:3914109-3916888	GM12878	blood:	n/a	chr11:3914726-3914736 chr11:3916295-3916307 chr11:3914722-3914738 chr11:3914726-3914738 chr11:3915715-3915725 chr11:3916290-3916306 chr11:3914726-3914736 chr11:3915715-3915727 chr11:3916409-3916422
14	FOXA1	chr11:3914639-3914839	T-47D	breast:	n/a	n/a
15	FOXA1	chr11:3914377-3914554	T-47D	breast:	n/a	n/a
16	FOXA1	chr11:3914580-3914862	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:3914282-3914854	T-47D	breast:	n/a	n/a
18	JUND	chr11:3913511-3913706	K562	blood:	n/a	n/a
19	MAX	chr11:3914616-3914807	GM12878	blood:	n/a	n/a
20	MAZ	chr11:3913495-3913531	K562	blood:	n/a	n/a
21	POLR2A	chr11:3914528-3914838	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:3914590-3915109	Raji	blood:	n/a	n/a
23	POLR2A	chr11:3914606-3915962	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:3914725-3915993	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:3914610-3915971	GM12891	blood:	n/a	n/a
26	STAT1	chr11:3914368-3914507	GM12878	blood:	n/a	n/a
27	STAT3	chr11:3914656-3914931	GM12878	blood:	n/a	n/a
28	TAL1	chr11:3912998-3913754	K562	blood:	n/a	n/a
29	TBL1XR1	chr11:3913477-3913652	K562	blood:	n/a	n/a
30	TBL1XR1	chr11:3914506-3914564	GM12878	blood:	n/a	n/a
31	TBP	chr11:3914651-3914927	GM12878	blood:	n/a	n/a
32	TEAD4	chr11:3913435-3913788	K562	blood:	n/a	n/a
33	TEAD4	chr11:3912849-3913388	K562	blood:	n/a	n/a
34	UBTF	chr11:3913513-3913614	K562	blood:	n/a	n/a
35	UBTF	chr11:3913236-3913253	K562	blood:	n/a	n/a
36	YY1	chr11:3913394-3913633	K562	blood:	n/a	chr11:3913486-3913495
37	ZC3H11A	chr11:3913534-3913617	K562	blood:	n/a	n/a
38	ZNF384	chr11:3914504-3915942	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:
2	chr11:3898534..3901352-chr11:3914445..3916336,2	K562	blood:
3	chr11:3887269..3888830-chr11:3914209..3915922,2	K562	blood:
4	chr11:3914215..3916212-chr11:3921152..3923651,2	K562	blood:
5	chr11:3912079..3913624-chr11:3916804..3918326,2	K562	blood:
6	chr11:3904375..3907098-chr11:3909715..3912468,3	K562	blood:
7	chr11:3906664..3909533-chr11:3913263..3915649,2	K562	blood:

Variant related genes	Relation type
ENSG00000230593	TF binding region
ENSG00000167323	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115877634	chr11:3912155-3912156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10767681	chr11:3912194-3912195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527331080	chr11:3912240-3912241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549090853	chr11:3912256-3912257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567404035	chr11:3912287-3912288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548791092	chr11:3912309-3912310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538018562	chr11:3912323-3912324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549920453	chr11:3912359-3912360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80300289	chr11:3912362-3912363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557906521	chr11:3912378-3912379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538884598	chr11:3912390-3912391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553785481	chr11:3912406-3912407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572898000	chr11:3912438-3912439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184856980	chr11:3912459-3912460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555423528	chr11:3912460-3912461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202019137	chr11:3912486-3912487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368781879	chr11:3912495-3912496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537531324	chr11:3912527-3912528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146416627	chr11:3912528-3912529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386372945	chr11:3912536-3912537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77289153	chr11:3912537-3912538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573822423	chr11:3912568-3912569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544399765	chr11:3912582-3912583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563060210	chr11:3912583-3912584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578114276	chr11:3912588-3912589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545683588	chr11:3912595-3912596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370143337	chr11:3912740-3912741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12271076	chr11:3912752-3912753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368628266	chr11:3912771-3912772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11030176	chr11:3912804-3912805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs188127081	chr11:3912854-3912855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570842668	chr11:3912912-3912913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141965209	chr11:3912959-3912960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549618733	chr11:3912971-3912972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150661665	chr11:3913005-3913006	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191201873	chr11:3913051-3913052	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76785687	chr11:3913063-3913064	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79189049	chr11:3913065-3913066	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75580975	chr11:3913066-3913067	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547277074	chr11:3913103-3913104	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565668473	chr11:3913104-3913105	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538410616	chr11:3913122-3913123	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555311411	chr11:3913131-3913132	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573708567	chr11:3913191-3913192	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28540175	chr11:3913236-3913237	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538292857	chr11:3913241-3913242	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10458894	chr11:3913272-3913273	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs558435383	chr11:3913275-3913276	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73423257	chr11:3913297-3913298	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61095649	chr11:3913322-3913323	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
2	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:3899800-3915600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:3900000-3916000	Weak transcription	Spleen	Spleen
6	chr11:3901200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:3902200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:3902200-3916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:3902200-3916400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:3902400-3916400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:3902400-3923800	Weak transcription	Gastric	stomach
12	chr11:3905800-3915200	Weak transcription	Esophagus	oesophagus
13	chr11:3905800-3915200	Weak transcription	Right Ventricle	heart
14	chr11:3906000-3913000	Weak transcription	Small Intestine	intestine
15	chr11:3906000-3914200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:3906000-3914600	Enhancers	Primary B cells from cord blood	blood
17	chr11:3906000-3915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:3906000-3915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:3907000-3913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:3907200-3912200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:3907200-3915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:3907400-3914600	Weak transcription	Osteobl	bone
23	chr11:3907400-3915400	Weak transcription	Lung	lung
24	chr11:3907400-3915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:3907400-3923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:3907600-3915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:3907600-3922600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:3907800-3915200	Weak transcription	HMEC	breast
29	chr11:3908200-3914000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:3908400-3912400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:3909600-3914400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:3909600-3915600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:3909800-3914000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:3909800-3914200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:3910000-3912600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:3910000-3913000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:3910000-3913600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:3910000-3914000	Weak transcription	Fetal Thymus	thymus
39	chr11:3910200-3913400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:3910200-3914000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:3910200-3914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:3910200-3914400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:3910200-3915000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:3910400-3914000	Weak transcription	Placenta	Placenta
45	chr11:3910600-3914400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:3910800-3912200	Enhancers	Liver	Liver
47	chr11:3910800-3912400	Enhancers	HepG2	liver
48	chr11:3911000-3913000	Enhancers	K562	blood
49	chr11:3911200-3912400	Enhancers	Adipose Nuclei	Adipose
50	chr11:3911200-3916800	Enhancers	Dnd41	blood

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