Variant report

Variant	esv3444058
Chromosome Location	chr2:95700825-95707523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95686313..95689732-chr2:95706916..95710668,3	MCF-7	breast:
2	chr2:95706431..95707932-chr2:95711517..95713440,2	MCF-7	breast:
3	chr2:95698656..95702870-chr2:95706305..95711036,7	MCF-7	breast:
4	chr2:95698656..95702870-chr2:95706305..95711036,7	MCF-7	breast:
5	chr2:95688354..95689094-chr2:95705954..95706856,2	MCF-7	breast:
6	chr2:95694636..95698537-chr2:95698705..95703366,6	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375281173	chr2:95700833-95700834	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs74728561	chr2:95700871-95700872	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568742031	chr2:95700910-95700911	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556633374	chr2:95700912-95700913	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115512379	chr2:95700926-95700927	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528228848	chr2:95700959-95700960	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs116778080	chr2:95700986-95700987	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs13396163	chr2:95701132-95701133	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538304709	chr2:95701170-95701171	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373469733	chr2:95701255-95701256	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372634522	chr2:95701326-95701327	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376503913	chr2:95701413-95701414	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558602445	chr2:95701469-95701470	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542576240	chr2:95701496-95701497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113758064	chr2:95701516-95701517	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544358124	chr2:95701566-95701567	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554486207	chr2:95701656-95701657	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186192265	chr2:95701657-95701658	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540143916	chr2:95701702-95701703	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540143399	chr2:95701710-95701711	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114909760	chr2:95701715-95701716	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532367000	chr2:95701721-95701722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190259513	chr2:95701744-95701745	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181434996	chr2:95701746-95701747	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531734366	chr2:95701776-95701777	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72819440	chr2:95701848-95701849	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185289020	chr2:95701895-95701896	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562276910	chr2:95701982-95701983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375735598	chr2:95701994-95701995	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527931283	chr2:95701996-95701997	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189992320	chr2:95702018-95702019	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571193529	chr2:95702039-95702040	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4854242	chr2:95702089-95702090	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546597094	chr2:95702096-95702097	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568903529	chr2:95702097-95702098	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537545043	chr2:95702160-95702161	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554300779	chr2:95702166-95702167	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574281873	chr2:95702173-95702174	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533783314	chr2:95702196-95702197	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375539323	chr2:95702239-95702240	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577096478	chr2:95702308-95702309	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546151135	chr2:95702315-95702316	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183306339	chr2:95702328-95702329	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576442311	chr2:95702350-95702351	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532346812	chr2:95702355-95702356	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541950598	chr2:95702359-95702360	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576662182	chr2:95702389-95702390	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550800987	chr2:95702415-95702416	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199709355	chr2:95702419-95702420	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189136327	chr2:95702435-95702436	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95692600-95702200	Weak transcription	Pancreas	Pancrea
2	chr2:95693400-95706400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:95693600-95702400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:95694000-95701400	Genic enhancers	Fetal Thymus	thymus
5	chr2:95694000-95703000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:95695200-95703800	Enhancers	Brain Angular Gyrus	brain
7	chr2:95696000-95706800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:95696400-95701400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:95696400-95702200	Weak transcription	Gastric	stomach
10	chr2:95696800-95702000	Weak transcription	Fetal Kidney	kidney
11	chr2:95698400-95710400	Enhancers	Brain Substantia Nigra	brain
12	chr2:95698800-95702600	Genic enhancers	Thymus	Thymus
13	chr2:95699000-95702400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:95699000-95704200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:95699000-95708200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:95699200-95710000	Enhancers	Brain Anterior Caudate	brain
17	chr2:95699400-95704600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:95699600-95701200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:95699600-95702800	Enhancers	Esophagus	oesophagus
20	chr2:95699600-95704000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:95699800-95702200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:95699800-95702600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:95700000-95702600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:95700000-95710200	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:95700200-95701200	Enhancers	GM12878-XiMat	blood
26	chr2:95700200-95702200	Weak transcription	Lung	lung
27	chr2:95700200-95703000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:95700200-95703000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:95700200-95708000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:95700200-95709000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:95700400-95701200	Enhancers	Primary T cells from cord blood	blood
32	chr2:95700400-95709000	Weak transcription	Dnd41	blood
33	chr2:95700600-95701200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr2:95700800-95703400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:95701200-95702200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:95701200-95704000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:95701200-95708200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:95701400-95701800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:95701400-95702800	Enhancers	Fetal Thymus	thymus
40	chr2:95701800-95706800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:95702000-95702200	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:95702000-95703000	ZNF genes & repeats	Fetal Kidney	kidney
43	chr2:95702200-95702400	Genic enhancers	Primary T cells from cord blood	blood
44	chr2:95702200-95702400	Enhancers	Gastric	stomach
45	chr2:95702200-95702400	Enhancers	Lung	lung
46	chr2:95702200-95702600	ZNF genes & repeats	Pancreas	Pancrea
47	chr2:95702400-95702600	Enhancers	Placenta	Placenta
48	chr2:95702400-95702800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:95702400-95703000	Weak transcription	Gastric	stomach
50	chr2:95702400-95705200	Weak transcription	Lung	lung

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