Variant report

Variant	esv33275
Chromosome Location	chr11:63368995-63370871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63369471..63371233-chr11:63378331..63380556,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75086090	chr11:63369034-63369035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78758925	chr11:63369053-63369054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562074748	chr11:63369075-63369076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370339191	chr11:63369084-63369085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530966476	chr11:63369101-63369102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551090874	chr11:63369103-63369104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145135092	chr11:63369185-63369186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533346320	chr11:63369227-63369228	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34344092	chr11:63369285-63369286	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552731197	chr11:63369292-63369293	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547184796	chr11:63369317-63369318	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57681205	chr11:63369321-63369322	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542647145	chr11:63369359-63369360	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374427619	chr11:63369369-63369370	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563412510	chr11:63369414-63369415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368176742	chr11:63369452-63369453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139492986	chr11:63369453-63369454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60597573	chr11:63369469-63369470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371569178	chr11:63369470-63369471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35377259	chr11:63369474-63369475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35009742	chr11:63369477-63369478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35064355	chr11:63369482-63369483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549310088	chr11:63369524-63369525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142193959	chr11:63369562-63369563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111387885	chr11:63369563-63369564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557416741	chr11:63369591-63369592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577684576	chr11:63369637-63369638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533720911	chr11:63369680-63369681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2957257	chr11:63369717-63369718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2957258	chr11:63369727-63369728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs3017409	chr11:63369731-63369732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs553936624	chr11:63369744-63369745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35265032	chr11:63369754-63369755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557540966	chr11:63369757-63369758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61260700	chr11:63369758-63369759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs398016339	chr11:63369771-63369772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182885910	chr11:63369848-63369849	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542933469	chr11:63369883-63369884	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs151201314	chr11:63369888-63369889	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187484759	chr11:63369916-63369917	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75508049	chr11:63370015-63370016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564389068	chr11:63370017-63370018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74552743	chr11:63370018-63370019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs540422836	chr11:63370055-63370056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560730842	chr11:63370125-63370126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112957901	chr11:63370146-63370147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7115616	chr11:63370158-63370159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs141297686	chr11:63370169-63370170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548157513	chr11:63370213-63370214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531175595	chr11:63370291-63370292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	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
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63343000-63376600	Weak transcription	Colonic Mucosa	Colon
2	chr11:63347800-63370200	Weak transcription	Psoas Muscle	Psoas
3	chr11:63350000-63375800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:63350200-63370000	Weak transcription	Small Intestine	intestine
5	chr11:63350200-63377000	Weak transcription	Hela-S3	cervix
6	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:63357200-63369600	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:63357600-63380400	Weak transcription	NHLF	lung
9	chr11:63357800-63370200	Weak transcription	Pancreas	Pancrea
10	chr11:63357800-63374200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:63358400-63369800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:63358600-63370600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:63358800-63377000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:63359600-63375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:63361000-63369400	Weak transcription	Fetal Stomach	stomach
16	chr11:63361200-63376800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:63361600-63373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:63362000-63378000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:63363000-63377000	Weak transcription	Esophagus	oesophagus
20	chr11:63363200-63369600	Weak transcription	HSMMtube	muscle
21	chr11:63363400-63369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:63363400-63369600	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:63364000-63369200	Weak transcription	Placenta	Placenta
24	chr11:63364400-63370800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:63364600-63376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:63365600-63370800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:63365600-63373400	Weak transcription	Gastric	stomach
28	chr11:63365800-63369200	Weak transcription	Ovary	ovary
29	chr11:63365800-63369600	Weak transcription	Aorta	Aorta
30	chr11:63365800-63370200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:63365800-63370600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:63365800-63370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:63366000-63370000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:63366200-63370000	Weak transcription	Liver	Liver
35	chr11:63366200-63370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:63366400-63369200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:63366400-63369600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:63366400-63369800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:63366400-63370800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:63366400-63370800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:63366400-63374400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:63366400-63376600	Weak transcription	Lung	lung
43	chr11:63366600-63369800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:63366800-63370800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:63366800-63375800	Weak transcription	Spleen	Spleen
46	chr11:63367000-63369000	Weak transcription	Adipose Nuclei	Adipose
47	chr11:63367000-63369800	Weak transcription	HSMM	muscle
48	chr11:63367000-63372800	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:63367000-63377000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:63367200-63369600	Weak transcription	Osteobl	bone

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