Variant report

Variant	esv3463620
Chromosome Location	chr11:85345255-85346759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85344282..85346606-chr11:85367280..85369213,2	MCF-7	breast:
2	chr11:85337741..85343545-chr11:85345780..85354384,11	MCF-7	breast:
3	chr11:85338448..85341428-chr11:85341635..85345744,6	MCF-7	breast:
4	chr11:85338792..85341114-chr11:85342281..85345655,5	MCF-7	breast:
5	chr11:85338790..85340950-chr11:85345687..85347390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150672	chromatin interactions
ENSG00000171204	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141929525	chr11:85345258-85345259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539263895	chr11:85345261-85345262	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557796872	chr11:85345315-85345316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573006534	chr11:85345323-85345324	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201441774	chr11:85345324-85345325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376707457	chr11:85345326-85345327	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373907060	chr11:85345351-85345352	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533757707	chr11:85345396-85345397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112211454	chr11:85345412-85345413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs116037284	chr11:85345432-85345433	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187881805	chr11:85345460-85345461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542463783	chr11:85345477-85345478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563838267	chr11:85345500-85345501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575760943	chr11:85345521-85345522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs80308550	chr11:85345544-85345545	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2304342	chr11:85345545-85345546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76117886	chr11:85345550-85345551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191830876	chr11:85345554-85345555	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77054214	chr11:85345568-85345569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144612686	chr11:85345608-85345609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529252153	chr11:85345630-85345631	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184116321	chr11:85345715-85345716	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569070791	chr11:85345722-85345723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539588426	chr11:85345744-85345745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371343601	chr11:85345746-85345747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551324771	chr11:85345769-85345770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75668727	chr11:85345784-85345785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548808724	chr11:85345785-85345786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533924260	chr11:85345796-85345797	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187430348	chr11:85345848-85345849	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192282122	chr11:85345881-85345882	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533885703	chr11:85345921-85345922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537459266	chr11:85345953-85345954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7946602	chr11:85345961-85345962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76218810	chr11:85346011-85346012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575877343	chr11:85346012-85346013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7949575	chr11:85346020-85346021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7949782	chr11:85346027-85346028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376820141	chr11:85346069-85346070	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6592257	chr11:85346073-85346074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7128452	chr11:85346114-85346115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184094632	chr11:85346122-85346123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540281656	chr11:85346169-85346170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs636735	chr11:85346171-85346172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372565646	chr11:85346195-85346196	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557767372	chr11:85346201-85346202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7949727	chr11:85346236-85346237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75257865	chr11:85346310-85346311	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7949858	chr11:85346317-85346318	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377092800	chr11:85346320-85346321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Lung cancer	18438408	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

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340200-85348400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85340200-85351800	Weak transcription	Gastric	stomach
3	chr11:85340200-85352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85340400-85345400	Weak transcription	Lung	lung
5	chr11:85340400-85349400	Weak transcription	Pancreas	Pancrea
6	chr11:85340400-85351000	Weak transcription	Esophagus	oesophagus
7	chr11:85340600-85345400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:85340600-85345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:85340600-85345400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:85340600-85345400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:85340600-85345400	Weak transcription	Left Ventricle	heart
12	chr11:85340600-85345600	Weak transcription	Ovary	ovary
13	chr11:85340600-85345800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:85340600-85347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:85340600-85350000	Weak transcription	Stomach Mucosa	stomach
16	chr11:85340600-85352800	Weak transcription	Fetal Brain Male	brain
17	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
18	chr11:85340800-85345400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:85340800-85350000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
21	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
22	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
23	chr11:85341000-85351600	Weak transcription	Thymus	Thymus
24	chr11:85341200-85345400	Weak transcription	Fetal Kidney	kidney
25	chr11:85341200-85345400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:85341200-85345400	Weak transcription	NH-A	brain
27	chr11:85341200-85345600	Weak transcription	Brain Germinal Matrix	brain
28	chr11:85341200-85348000	Weak transcription	Fetal Brain Female	brain
29	chr11:85341200-85354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:85341200-85358000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:85341200-85358000	Weak transcription	NHLF	lung
32	chr11:85341200-85358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:85341200-85358200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:85341200-85358200	Weak transcription	Spleen	Spleen
35	chr11:85341200-85358400	Weak transcription	Small Intestine	intestine
36	chr11:85341400-85345400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:85341400-85345400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:85341400-85345400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:85341400-85345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:85341400-85354200	Weak transcription	Fetal Intestine Small	intestine
41	chr11:85341600-85346400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:85341600-85347000	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:85341800-85345400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:85341800-85348800	Strong transcription	Liver	Liver
45	chr11:85341800-85353000	Weak transcription	Fetal Heart	heart
46	chr11:85342000-85347600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:85342000-85348400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:85342000-85349200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:85342200-85358200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:85342400-85345400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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