Variant report

Variant	esv3358277
Chromosome Location	chr11:68116926-68119724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68116698..68120092-chr11:68121944..68124842,3	MCF-7	breast:
2	chr11:68118415..68120971-chr11:68138628..68140301,2	MCF-7	breast:
3	chr11:68113645..68115715-chr11:68116724..68119590,2	MCF-7	breast:
4	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
5	chr11:68113675..68115970-chr11:68117419..68119405,2	K562	blood:
6	chr11:68116764..68118383-chr11:68120873..68123073,2	K562	blood:
7	chr11:68114086..68116989-chr11:68117295..68119405,4	K562	blood:
8	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
9	chr11:68114086..68116989-chr11:68117295..68119405,4	K562	blood:
10	chr11:68107929..68111362-chr11:68116810..68118643,3	MCF-7	breast:

No data

Extended variants
information (count: 133 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573633430	chr11:68116969-68116970	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77780971	chr11:68117014-68117015	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191596047	chr11:68117023-68117024	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577431167	chr11:68117044-68117045	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75128878	chr11:68117068-68117069	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562903875	chr11:68117123-68117124	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373117434	chr11:68117150-68117151	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184605292	chr11:68117165-68117166	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141895216	chr11:68117185-68117186	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150631478	chr11:68117222-68117223	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114619969	chr11:68117315-68117316	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77408491	chr11:68117363-68117364	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570674649	chr11:68117436-68117437	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59174369	chr11:68117438-68117439	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550404091	chr11:68117439-68117440	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373988628	chr11:68117440-68117441	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568877330	chr11:68117515-68117516	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535857991	chr11:68117516-68117517	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73513022	chr11:68117526-68117527	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377557005	chr11:68117528-68117529	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78813936	chr11:68117540-68117541	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7930605	chr11:68117580-68117581	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs314760	chr11:68117612-68117613	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577065175	chr11:68117614-68117615	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544737977	chr11:68117615-68117616	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577616944	chr11:68117650-68117651	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527703429	chr11:68117652-68117653	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12808455	chr11:68117673-68117674	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556372568	chr11:68117702-68117703	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373798942	chr11:68117756-68117757	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2458271	chr11:68117815-68117816	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2508842	chr11:68117818-68117819	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574808193	chr11:68117835-68117836	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs314761	chr11:68117849-68117850	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189538884	chr11:68117889-68117890	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7111735	chr11:68117921-68117922	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs58001317	chr11:68117940-68117941	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564388813	chr11:68117987-68117988	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532158326	chr11:68118018-68118019	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs180680167	chr11:68118022-68118023	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs531890254	chr11:68118033-68118034	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs550289341	chr11:68118061-68118062	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs529769803	chr11:68118068-68118069	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs34687698	chr11:68118138-68118139	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs34287916	chr11:68118141-68118142	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs571905909	chr11:68118148-68118149	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs374540623	chr11:68118215-68118216	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs190552192	chr11:68118264-68118265	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs548223794	chr11:68118313-68118314	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs566436126	chr11:68118337-68118338	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68104600-68119600	Enhancers	Liver	Liver
3	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
4	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
5	chr11:68109000-68117000	Weak transcription	Thymus	Thymus
6	chr11:68109200-68119800	Weak transcription	Hela-S3	cervix
7	chr11:68110200-68118200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
9	chr11:68110800-68119200	Weak transcription	NH-A	brain
10	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:68111000-68117000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
13	chr11:68111200-68117200	Weak transcription	Fetal Lung	lung
14	chr11:68111200-68118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:68111200-68120400	Weak transcription	HSMM	muscle
16	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:68111400-68121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:68111600-68117000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:68111600-68118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:68111600-68121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:68111800-68120600	Weak transcription	NHEK	skin
24	chr11:68111800-68120800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:68112000-68120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:68112200-68121200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:68113400-68119600	Weak transcription	A549	lung
28	chr11:68113400-68121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
31	chr11:68113600-68117000	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:68114200-68119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:68114200-68120600	Weak transcription	Osteobl	bone
35	chr11:68114200-68125800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:68114400-68119400	Weak transcription	Fetal Thymus	thymus
37	chr11:68114400-68121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:68114400-68125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:68114600-68117000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:68114600-68118000	Weak transcription	Fetal Heart	heart
41	chr11:68114600-68120400	Weak transcription	HMEC	breast
42	chr11:68114800-68117400	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr11:68114800-68118800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:68114800-68119200	Strong transcription	Fetal Stomach	stomach
45	chr11:68114800-68120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:68114800-68120400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:68114800-68120600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
49	chr11:68115000-68117000	Weak transcription	Placenta	Placenta
50	chr11:68115000-68117800	Strong transcription	Fetal Muscle Trunk	muscle

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