Variant report

Variant	esv275356
Chromosome Location	chr11:3908738-3913014
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	BCL11A	chr11:3912048-3912291	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:3911310-3911540	HepG2	liver:	n/a	chr11:3911455-3911466
3	CEBPB	chr11:3911349-3911527	HepG2	liver:	n/a	chr11:3911455-3911466
4	CEBPB	chr11:3911248-3911524	K562	blood:	n/a	chr11:3911455-3911466
5	CEBPB	chr11:3911296-3911563	K562	blood:	n/a	chr11:3911455-3911466
6	CEBPB	chr11:3911314-3911630	HepG2	liver:	n/a	chr11:3911455-3911466
7	CTCF	chr11:3909720-3909870	GM12874	blood:	n/a	n/a
8	EBF1	chr11:3911970-3912376	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
9	EBF1	chr11:3911959-3912351	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
10	EBF1	chr11:3911933-3912427	GM12878	blood:	n/a	chr11:3912199-3912210 chr11:3912199-3912212 chr11:3912201-3912210
11	GATA2	chr11:3910229-3910530	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr11:3910203-3910572	MCF-7	breast:	n/a	n/a
13	GATA3	chr11:3910290-3910565	SH-SY5Y	brain:	n/a	n/a
14	MAX	chr11:3911294-3911303	NB4	blood:	n/a	n/a
15	NRF1	chr11:3911424-3911425	GM12878	blood:	n/a	n/a
16	RCOR1	chr11:3911494-3911527	K562	blood:	n/a	n/a
17	SPI1	chr11:3909549-3909732	GM12878	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
18	SPI1	chr11:3909524-3909753	K562	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
19	SPI1	chr11:3909510-3909739	K562	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
20	SPI1	chr11:3909418-3909745	GM12891	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
21	SPI1	chr11:3909417-3909834	HL-60	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
22	SPI1	chr11:3909434-3909802	GM12891	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
23	SPI1	chr11:3909514-3909830	GM12878	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909650-3909663
24	SPI1	chr11:3909260-3909845	HL-60	blood:	n/a	chr11:3909651-3909664 chr11:3909651-3909664 chr11:3909291-3909304 chr11:3909650-3909663
25	TAL1	chr11:3912998-3913754	K562	blood:	n/a	n/a
26	TEAD4	chr11:3912849-3913388	K562	blood:	n/a	n/a
27	ZEB1	chr11:3909783-3910146	GM12878	blood:	n/a	chr11:3909920-3909929
28	ZNF384	chr11:3909188-3909356	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3904375..3907098-chr11:3909715..3912468,3	K562	blood:
2	chr11:3912079..3913624-chr11:3916804..3918326,2	K562	blood:
3	chr11:3909574..3911315-chr11:3913084..3915868,2	K562	blood:
4	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:
5	chr11:3899401..3901421-chr11:3909382..3911737,2	K562	blood:
6	chr11:3906664..3909533-chr11:3913263..3915649,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000230593	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12271807	chr11:3908738-3908739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114274218	chr11:3908768-3908769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535144104	chr11:3908788-3908789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530622900	chr11:3908815-3908816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528457530	chr11:3908877-3908878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552443771	chr11:3908939-3908940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570695037	chr11:3908941-3908942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532521414	chr11:3908969-3908970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574895700	chr11:3908970-3908971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543753954	chr11:3908973-3908974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543529770	chr11:3908974-3908975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374038686	chr11:3908981-3908982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376784988	chr11:3909016-3909017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556231648	chr11:3909023-3909024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369335409	chr11:3909032-3909033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576277824	chr11:3909042-3909043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555108098	chr11:3909055-3909056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570213322	chr11:3909059-3909060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10835245	chr11:3909080-3909081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs563117130	chr11:3909106-3909107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559190721	chr11:3909131-3909132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150067470	chr11:3909139-3909140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541734831	chr11:3909154-3909155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10835246	chr11:3909156-3909157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs375461850	chr11:3909158-3909159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141007220	chr11:3909168-3909169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201451065	chr11:3909199-3909200	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs75967537	chr11:3909200-3909201	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371434107	chr11:3909213-3909214	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147807246	chr11:3909214-3909215	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79947672	chr11:3909216-3909217	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141221687	chr11:3909217-3909218	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372506345	chr11:3909218-3909219	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527457656	chr11:3909220-3909221	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530611100	chr11:3909227-3909228	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545712919	chr11:3909228-3909229	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184131849	chr11:3909246-3909247	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117600710	chr11:3909256-3909257	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs397978348	chr11:3909286-3909287	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566036285	chr11:3909405-3909406	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377520409	chr11:3909438-3909439	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189457622	chr11:3909466-3909467	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548695490	chr11:3909468-3909469	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17173877	chr11:3909529-3909530	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537632748	chr11:3909574-3909575	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113599475	chr11:3909658-3909659	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558858831	chr11:3909700-3909701	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571042480	chr11:3909751-3909752	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10160415	chr11:3909766-3909767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs114578780	chr11:3909798-3909799	Weak transcription Enhancers Genic enhancers	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:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3888600-3911200	Weak transcription	Dnd41	blood
2	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
3	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:3899800-3915600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:3900000-3916000	Weak transcription	Spleen	Spleen
7	chr11:3901200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:3902000-3911400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:3902200-3909200	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:3902200-3909200	Weak transcription	Fetal Thymus	thymus
11	chr11:3902200-3909200	Weak transcription	Thymus	Thymus
12	chr11:3902200-3909400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:3902200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:3902200-3916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:3902200-3916400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:3902400-3909200	Weak transcription	Left Ventricle	heart
17	chr11:3902400-3910400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:3902400-3916400	Weak transcription	Fetal Intestine Small	intestine
19	chr11:3902400-3923800	Weak transcription	Gastric	stomach
20	chr11:3905800-3911000	Weak transcription	K562	blood
21	chr11:3905800-3915200	Weak transcription	Esophagus	oesophagus
22	chr11:3905800-3915200	Weak transcription	Right Ventricle	heart
23	chr11:3906000-3913000	Weak transcription	Small Intestine	intestine
24	chr11:3906000-3914200	Weak transcription	Primary T cells from cord blood	blood
25	chr11:3906000-3914600	Enhancers	Primary B cells from cord blood	blood
26	chr11:3906000-3915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:3906000-3915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:3907000-3909600	Enhancers	HepG2	liver
29	chr11:3907000-3910000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:3907000-3910800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:3907000-3913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:3907200-3909000	Enhancers	Liver	Liver
33	chr11:3907200-3909200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:3907200-3910200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:3907200-3910200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:3907200-3912200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:3907200-3915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:3907400-3914600	Weak transcription	Osteobl	bone
39	chr11:3907400-3915400	Weak transcription	Lung	lung
40	chr11:3907400-3915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:3907400-3923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:3907600-3915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:3907600-3922600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:3907800-3915200	Weak transcription	HMEC	breast
45	chr11:3908000-3910000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:3908000-3910000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:3908000-3910400	Enhancers	Psoas Muscle	Psoas
48	chr11:3908000-3912000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:3908200-3908800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:3908200-3909600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links