Variant report

Variant	esv3377434
Chromosome Location	chr11:85438860-85439081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85438873-85438914	ProgFib	skin:	n/a	n/a
2	RFX5	chr11:85438470-85439104	IMR90	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85438818-85438868	HAEpiC	amniotic membrane:	n/a
2	chr11:85438818-85438868	HepG2	liver:	n/a
3	chr11:85438947-85438997	GM12891	blood:	n/a
4	chr11:85438947-85438997	GM06990	blood:	n/a
5	chr11:85438947-85438997	SAEC	small airway:	n/a
6	chr11:85438818-85438868	AG09309	skin:	n/a
7	chr11:85438947-85438997	T-47D	breast:	n/a
8	chr11:85438947-85438997	NH-A	brain:	n/a
9	chr11:85438818-85438868	GM12878	blood:	n/a
10	chr11:85438947-85438997	Jurkat	blood:	n/a
11	chr11:85438818-85438868	PANC-1	pancreas:	n/a
12	chr11:85438947-85438997	SKMC	muscle:	n/a
13	chr11:85438818-85438868	CMK	blood:	n/a
14	chr11:85438947-85438997	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:85438818-85438868	SK-N-SH	brain:	n/a
16	chr11:85438947-85438997	MCF-7	breast:	n/a
17	chr11:85438818-85438868	BJ	skin:	n/a
18	chr11:85438818-85438868	HCM	heart:	n/a
19	chr11:85438818-85438868	NB4	blood:	n/a
20	chr11:85438818-85438868	RPTEC	kidney:	n/a
21	chr11:85438947-85438997	ProgFib	skin:	n/a
22	chr11:85438818-85438868	Caco-2	colon:	n/a
23	chr11:85438947-85438997	K562	blood:	n/a
24	chr11:85438947-85438997	HIPEpiC	eye:	n/a
25	chr11:85438947-85438997	SK-N-SH	brain:	n/a
26	chr11:85438818-85438868	HEK293	kidney:	embryo
27	chr11:85438947-85438997	SK-N-MC	brain:	n/a
28	chr11:85438947-85438997	PrEC	prostate:	n/a
29	chr11:85438818-85438868	HCT-116	colon:	n/a
30	chr11:85438818-85438868	U87	brain:	n/a
31	chr11:85438947-85438997	BJ	skin:	n/a
32	chr11:85438818-85438868	ovcar-3	ovarian:	n/a
33	chr11:85438947-85438997	GM12892	blood:	n/a
34	chr11:85438947-85438997	HUVEC	blood vessel:	n/a
35	chr11:85438947-85438997	Hela-S3	cervix:	n/a
36	chr11:85438818-85438868	HL-60	blood:	n/a
37	chr11:85438947-85438997	AG04449	skin:	fetal
38	chr11:85438818-85438868	MCF-7	breast:	n/a
39	chr11:85438818-85438868	ProgFib	skin:	n/a
40	chr11:85438818-85438868	Jurkat	blood:	n/a
41	chr11:85438818-85438868	AG09319	gingival:	n/a
42	chr11:85438947-85438997	ECC-1	luminal epithelium:	n/a
43	chr11:85438947-85438997	HCPEpiC	choroid plexus:	n/a
44	chr11:85438818-85438868	HCPEpiC	choroid plexus:	n/a
45	chr11:85438947-85438997	HAEpiC	amniotic membrane:	n/a
46	chr11:85438818-85438868	HCF	heart:	n/a
47	chr11:85438947-85438997	HCM	heart:	n/a
48	chr11:85438818-85438868	T-47D	breast:	n/a
49	chr11:85438947-85438997	AG04450	lung:	fetal
50	chr11:85438818-85438868	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYTL2	TF binding region
SYTL2	CpG island
ENSG00000137501	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555430561	chr11:85438887-85438888	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375253029	chr11:85438893-85438894	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561612352	chr11:85438894-85438895	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376878085	chr11:85438901-85438902	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371522562	chr11:85438915-85438916	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367839212	chr11:85438920-85438921	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs61736736	chr11:85438932-85438933	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61736739	chr11:85438938-85438939	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537815950	chr11:85438939-85438940	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557707739	chr11:85438947-85438948	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs151237624	chr11:85438948-85438949	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546431644	chr11:85438977-85438978	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144927884	chr11:85438981-85438982	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564478275	chr11:85439001-85439002	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573385315	chr11:85439002-85439003	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200235154	chr11:85439019-85439020	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368237010	chr11:85439047-85439048	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	18438408	CNVD
Cancer	17440070	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85417600-85453000	Weak transcription	Gastric	stomach
2	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
7	chr11:85430600-85447000	Weak transcription	Ovary	ovary
8	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
10	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
14	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:85432200-85448400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:85433800-85448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:85434000-85439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:85434200-85439800	Strong transcription	Primary T cells from cord blood	blood
20	chr11:85434600-85445000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:85434800-85448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:85435200-85439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:85435400-85439000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:85435400-85448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:85435600-85456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:85436200-85443600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:85436600-85449200	Weak transcription	Small Intestine	intestine
28	chr11:85436800-85448800	Weak transcription	Left Ventricle	heart
29	chr11:85437000-85439000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:85437000-85441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:85437000-85447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:85437400-85439400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:85437600-85439000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:85437600-85451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:85437600-85451600	Weak transcription	Osteobl	bone
36	chr11:85437600-85459800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:85437800-85439000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:85437800-85439000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:85437800-85445200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:85437800-85458000	Weak transcription	HSMM	muscle
41	chr11:85438000-85445000	Weak transcription	NHDF-Ad	bronchial
42	chr11:85438000-85448800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:85438400-85445000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:85438400-85448600	Weak transcription	Fetal Kidney	kidney
45	chr11:85438600-85439000	Strong transcription	Colonic Mucosa	Colon
46	chr11:85438600-85444800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:85438600-85448600	Weak transcription	Stomach Mucosa	stomach
48	chr11:85438800-85445000	Weak transcription	NHLF	lung
49	chr11:85439000-85443400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:85439000-85444000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links