Variant report

Variant	esv2612929
Chromosome Location	chr11:77417363-77418586
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	CTCF	chr11:77417380-77417530	HRE	kidney:	n/a	n/a
2	CTCF	chr11:77417383-77417557	GM12878	blood:	n/a	n/a
3	MAX	chr11:77418313-77418324	NB4	blood:	n/a	n/a
4	POLR2A	chr11:77418234-77418248	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF384	chr11:77417298-77417585	K562	blood:	n/a	n/a
6	ZNF384	chr11:77417302-77417533	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77416682..77418872-chr11:77422779..77425076,2	MCF-7	breast:
2	chr11:77412071..77415003-chr11:77416582..77419160,3	K562	blood:
3	chr11:77412276..77415003-chr11:77415368..77418082,2	K562	blood:

Variant related genes	Relation type
RSF1	TF binding region
ENSG00000048649	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180831233	chr11:77417370-77417371	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142594930	chr11:77417392-77417393	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547302221	chr11:77417513-77417514	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78238188	chr11:77417596-77417597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538721107	chr11:77417599-77417600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552259573	chr11:77417612-77417613	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568874596	chr11:77417672-77417673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7124030	chr11:77417708-77417709	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs555242281	chr11:77417710-77417711	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79474639	chr11:77417744-77417745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534387352	chr11:77417750-77417751	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534432365	chr11:77417775-77417776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372364085	chr11:77417841-77417842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186265037	chr11:77417843-77417844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545866650	chr11:77417852-77417853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56331912	chr11:77417909-77417910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576095209	chr11:77417990-77417991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541892720	chr11:77418001-77418002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561992981	chr11:77418008-77418009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189166283	chr11:77418075-77418076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547694151	chr11:77418094-77418095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181582706	chr11:77418107-77418108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532971632	chr11:77418146-77418147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186619188	chr11:77418152-77418153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370385999	chr11:77418240-77418241	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569057567	chr11:77418242-77418243	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146133097	chr11:77418261-77418262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371365417	chr11:77418301-77418302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568455970	chr11:77418308-77418309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77438384	chr11:77418311-77418312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544690673	chr11:77418362-77418363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374406632	chr11:77418390-77418391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534197750	chr11:77418439-77418440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542100487	chr11:77418458-77418459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540119564	chr11:77418465-77418466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577472832	chr11:77418466-77418467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540077685	chr11:77418495-77418496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556287824	chr11:77418545-77418546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576231173	chr11:77418547-77418548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	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
Congenital diaphragmatic hernia	21525063	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77360400-77419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77374200-77417400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:77389800-77435400	Weak transcription	Psoas Muscle	Psoas
4	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:77394200-77425200	Weak transcription	Lung	lung
6	chr11:77394600-77435600	Weak transcription	Gastric	stomach
7	chr11:77394600-77441800	Weak transcription	Spleen	Spleen
8	chr11:77394600-77445600	Weak transcription	Esophagus	oesophagus
9	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
10	chr11:77394800-77418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
12	chr11:77398800-77422400	Weak transcription	Pancreas	Pancrea
13	chr11:77402600-77435800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:77403200-77442200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:77404600-77441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:77406400-77434600	Weak transcription	Fetal Brain Female	brain
17	chr11:77406800-77428000	Weak transcription	Ovary	ovary
18	chr11:77407200-77448000	Weak transcription	K562	blood
19	chr11:77408400-77434200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:77409400-77441600	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:77409600-77428000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:77409600-77432600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:77409600-77435200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:77409600-77435400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:77409600-77435600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:77409600-77441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:77409600-77453400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
30	chr11:77409800-77419200	Weak transcription	GM12878-XiMat	blood
31	chr11:77409800-77428000	Weak transcription	Placenta	Placenta
32	chr11:77409800-77428000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:77409800-77430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:77409800-77432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:77409800-77434200	Weak transcription	NHLF	lung
36	chr11:77409800-77434600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:77409800-77435400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:77409800-77435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:77409800-77435600	Weak transcription	Colonic Mucosa	Colon
40	chr11:77409800-77441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:77409800-77441600	Weak transcription	Aorta	Aorta
42	chr11:77409800-77441800	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:77410800-77435200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:77411000-77433800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:77412400-77435200	Weak transcription	Brain Germinal Matrix	brain
47	chr11:77412600-77432600	Weak transcription	Adipose Nuclei	Adipose
48	chr11:77412800-77427600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:77412800-77441800	Weak transcription	Fetal Brain Male	brain
50	chr11:77413000-77428400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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