Variant report

Variant	nsv971973
Chromosome Location	chr11:3992858-3995856
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	CEBPB	chr11:3993228-3993531	K562	blood:	n/a	n/a
2	CTCF	chr11:3993360-3993510	SK-N-SH_RA	brain:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
3	CTCF	chr11:3993340-3993490	GM12865	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
4	CTCF	chr11:3993340-3993490	HCPEpiC	choroid plexus:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
5	CTCF	chr11:3993300-3993450	NHEK	skin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
6	CTCF	chr11:3993320-3993470	NHDF-neo	bronchial:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
7	CTCF	chr11:3993401-3993466	K562	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
8	CTCF	chr11:3993400-3993550	HMEC	breast:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
9	CTCF	chr11:3993380-3993530	HCPEpiC	choroid plexus:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
10	CTCF	chr11:3993380-3993530	HBMEC	blood vessel:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
11	CTCF	chr11:3993360-3993510	AG09319	gingival:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
12	CTCF	chr11:3993380-3993530	HAc	cerebellar:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
13	CTCF	chr11:3993320-3993470	HUVEC	blood vessel:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
14	CTCF	chr11:3993380-3993530	HPF	lung:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
15	CTCF	chr11:3993260-3993410	HRE	kidney:	n/a	n/a
16	CTCF	chr11:3993360-3993510	GM06990	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
17	CTCF	chr11:3993420-3993570	GM12873	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
18	CTCF	chr11:3993380-3993530	GM12874	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
19	CTCF	chr11:3993440-3993590	HFF	foreskin:	n/a	n/a
20	CTCF	chr11:3993400-3993550	GM12872	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
21	CTCF	chr11:3993340-3993490	HA-sp	spinal cord:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
22	CTCF	chr11:3993360-3993510	AoAF	blood vessel:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
23	CTCF	chr11:3993400-3993550	HCM	heart:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
24	CTCF	chr11:3993460-3993610	SAEC	small airway:	n/a	n/a
25	CTCF	chr11:3993400-3993550	HCFaa	heart:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
26	CTCF	chr11:3993400-3993550	HEEpiC	esophagus:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
27	CTCF	chr11:3993320-3993470	GM12866	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
28	CTCF	chr11:3993296-3993567	IMR90	lung:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
29	CTCF	chr11:3993380-3993530	HMEC	breast:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
30	CTCF	chr11:3993340-3993490	HFF-Myc	foreskin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
31	CTCF	chr11:3993300-3993450	BJ	skin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
32	CTCF	chr11:3993380-3993530	K562	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
33	CTCF	chr11:3993360-3993510	MCF-7	breast:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
34	CTCF	chr11:3993320-3993470	AG09319	gingival:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
35	CTCF	chr11:3993400-3993550	GM12867	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
36	CTCF	chr11:3993286-3993585	K562	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
37	CTCF	chr11:3993300-3993450	GM12865	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
38	CTCF	chr11:3993360-3993510	AG10803	skin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
39	CTCF	chr11:3993320-3993470	AG09309	skin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
40	CTCF	chr11:3993420-3993570	HEK293	kidney:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
41	CTCF	chr11:3993360-3993510	BJ	skin:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
42	CTCF	chr11:3993300-3993450	GM12875	blood:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
43	CTCF	chr11:3993340-3993490	HEEpiC	esophagus:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
44	CTCF	chr11:3993380-3993530	HRE	kidney:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
45	CTCF	chr11:3993327-3993489	A549	lung:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
46	CTCF	chr11:3993280-3993430	AG09309	skin:	n/a	n/a
47	CTCF	chr11:3993413-3993523	Spleen_OC	spleen:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
48	CTCF	chr11:3993340-3993490	MCF-7	breast:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
49	CTCF	chr11:3993320-3993470	HVMF	connective:	n/a	chr11:3993425-3993443 chr11:3993427-3993440
50	CTCF	chr11:3993320-3993470	HCM	heart:	n/a	chr11:3993425-3993443 chr11:3993427-3993440

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3991210..3994913-chr11:3996027..3998429,3	K562	blood:
2	chr11:3991210..3992944-chr11:3996027..3998570,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOG-4	chr11:3995143-3995467	NONHSAT017632
2	lnc-RHOG-4	chr11:3994111-3994633	NONHSAT017632

Variant related genes	Relation type
HNRNPA1P76	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548354644	chr11:3992870-3992871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550854365	chr11:3992898-3992899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190435352	chr11:3992901-3992902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10835406	chr11:3992954-3992955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs552386043	chr11:3992986-3992987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570983607	chr11:3992996-3992997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182082497	chr11:3992997-3992998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55679086	chr11:3993001-3993002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370949889	chr11:3993009-3993010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117909714	chr11:3993079-3993080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144602724	chr11:3993113-3993114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557646266	chr11:3993137-3993138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575123975	chr11:3993182-3993183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545830821	chr11:3993204-3993205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10835407	chr11:3993231-3993232	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572638106	chr11:3993250-3993251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59791937	chr11:3993259-3993260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398054919	chr11:3993261-3993262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113287882	chr11:3993292-3993293	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374361087	chr11:3993294-3993295	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187641054	chr11:3993337-3993338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138552444	chr11:3993353-3993354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149260527	chr11:3993369-3993370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113766542	chr11:3993373-3993374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375183550	chr11:3993403-3993404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143342840	chr11:3993415-3993416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73427561	chr11:3993419-3993420	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552635571	chr11:3993457-3993458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570873135	chr11:3993460-3993461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191516091	chr11:3993464-3993465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57282641	chr11:3993499-3993500	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs60462758	chr11:3993518-3993519	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568630212	chr11:3993555-3993556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7107689	chr11:3993556-3993557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182083200	chr11:3993600-3993601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12803459	chr11:3993613-3993614	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555314962	chr11:3993628-3993629	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372966772	chr11:3993634-3993635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61355819	chr11:3993657-3993658	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185351913	chr11:3993702-3993703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537926401	chr11:3993708-3993709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527805796	chr11:3993709-3993710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555081932	chr11:3993746-3993747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190144877	chr11:3993753-3993754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544423350	chr11:3993762-3993763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182057262	chr11:3993773-3993774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2958715	chr11:3993857-3993858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547482704	chr11:3993867-3993868	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59269471	chr11:3993877-3993878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545341935	chr11:3993882-3993883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Neuroblastoma	18923524	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
4	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
6	chr11:3980600-3994200	Weak transcription	Fetal Stomach	stomach
7	chr11:3981600-3993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:3982000-3993200	Weak transcription	NHEK	skin
9	chr11:3982400-3994200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:3982600-3994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:3982600-3994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:3982600-4004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
15	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:3984400-3993000	Weak transcription	A549	lung
17	chr11:3985000-3993000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:3985000-3993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:3985000-4002400	Weak transcription	NHDF-Ad	bronchial
20	chr11:3985800-3993800	Weak transcription	HMEC	breast
21	chr11:3985800-4001200	Weak transcription	Small Intestine	intestine
22	chr11:3986000-4008000	Weak transcription	HepG2	liver
23	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
24	chr11:3987200-4001600	Weak transcription	Gastric	stomach
25	chr11:3987800-3993400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:3988000-4002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:3988200-4006200	Weak transcription	Pancreas	Pancrea
28	chr11:3989400-3993400	Weak transcription	Lung	lung
29	chr11:3989400-3997600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
31	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
32	chr11:3989800-4002400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:3989800-4006000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:3989800-4006200	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:3989800-4006600	Weak transcription	Liver	Liver
36	chr11:3990000-3993600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:3990000-4002000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:3990400-3996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:3990400-4006000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:3990600-3996600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:3990600-4000600	Weak transcription	Primary B cells from cord blood	blood
42	chr11:3990800-3994200	Weak transcription	Esophagus	oesophagus
43	chr11:3991200-4000800	Weak transcription	Ovary	ovary
44	chr11:3991200-4002400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:3991200-4004400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:3991200-4006200	Weak transcription	Adipose Nuclei	Adipose
47	chr11:3991400-4003000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:3991600-3993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:3991600-3994000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:3991600-3996000	Weak transcription	Brain Cingulate Gyrus	brain

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