Variant report

Variant	esv2757820
Chromosome Location	chr2:100380891-100546675
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100494778..100496433-chr2:100500531..100502056,2	MCF-7	breast:
2	chr2:100391765..100393285-chr2:100403659..100406413,2	K562	blood:
3	chr2:100392836..100396080-chr2:100396226..100398545,3	MCF-7	breast:
4	chr2:100517793..100520158-chr2:100527407..100530218,2	MCF-7	breast:
5	chr2:100391765..100393285-chr2:100403659..100406413,2	K562	blood:
6	chr2:100252844..100253666-chr2:100422970..100423881,3	MCF-7	breast:
7	chr2:100438595..100441140-chr2:100442686..100444862,2	K562	blood:
8	chr2:100513847..100516211-chr2:100521500..100523051,2	K562	blood:
9	chr2:100392836..100396080-chr2:100396226..100398545,3	MCF-7	breast:
10	chr2:100435040..100435951-chr2:100877088..100877597,2	MCF-7	breast:
11	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:
12	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:
13	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:
14	chr2:100396107..100398536-chr2:100399998..100402177,2	K562	blood:
15	chr2:100527501..100529981-chr2:100536677..100538307,2	K562	blood:
16	chr2:100435460..100437082-chr2:100859108..100860161,5	MCF-7	breast:
17	chr2:100434940..100435869-chr2:100857680..100858532,2	MCF-7	breast:
18	chr2:100341920..100342745-chr2:100437245..100438185,2	MCF-7	breast:
19	chr2:100396107..100398536-chr2:100399998..100402177,2	K562	blood:
20	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:
21	chr2:100175279..100176212-chr2:100437562..100438657,5	MCF-7	breast:
22	chr2:100486647..100487213-chr3:111686240..111686908,2	MCF-7	breast:
23	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:
24	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:
25	chr2:100506898..100509834-chr2:100512194..100514571,2	K562	blood:
26	chr2:100342124..100342677-chr2:100432974..100433546,2	MCF-7	breast:
27	chr2:100513847..100516211-chr2:100521500..100523051,2	K562	blood:
28	chr2:100511940..100515232-chr2:100515951..100517611,3	K562	blood:
29	chr2:100435483..100438030-chr2:100858556..100861072,2	MCF-7	breast:
30	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:
31	chr2:100527501..100529981-chr2:100536677..100538307,2	K562	blood:
32	chr2:100435277..100437585-chr2:100558410..100560429,2	MCF-7	breast:
33	chr2:100494778..100496433-chr2:100500531..100502056,2	MCF-7	breast:
34	chr2:100426650..100429823-chr2:100433540..100436662,3	MCF-7	breast:
35	chr2:100373954..100376933-chr2:100380813..100383519,2	MCF-7	breast:
36	chr2:100517793..100520158-chr2:100527407..100530218,2	MCF-7	breast:
37	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:
38	chr2:100533292..100535292-chr2:100538377..100541162,2	MCF-7	breast:
39	chr2:100426650..100429823-chr2:100433540..100436662,3	MCF-7	breast:
40	chr2:100511940..100515232-chr2:100515951..100517611,3	K562	blood:
41	chr2:100533292..100535292-chr2:100538377..100541162,2	MCF-7	breast:
42	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:
43	chr2:100438595..100441140-chr2:100442686..100444862,2	K562	blood:
44	chr2:100506898..100509834-chr2:100512194..100514571,2	K562	blood:
45	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:
46	chr2:100337048..100339070-chr2:100424064..100425617,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232084	chromatin interactions

Extended variants
information (count: 5925 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:5925 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559242190	chr2:100380916-100380917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577189321	chr2:100380956-100380957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564615531	chr2:100380984-100380985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546092837	chr2:100380992-100380993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148059270	chr2:100381124-100381125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141761647	chr2:100381126-100381127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544695390	chr2:100381128-100381129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139754629	chr2:100381150-100381151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188606084	chr2:100381157-100381158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74454925	chr2:100381163-100381164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546773971	chr2:100381237-100381238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572573710	chr2:100381253-100381254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566850178	chr2:100381318-100381319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532685844	chr2:100381334-100381335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150591356	chr2:100381361-100381362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201980692	chr2:100381369-100381370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139899879	chr2:100381376-100381377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537442644	chr2:100381377-100381378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143480408	chr2:100381383-100381384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141767362	chr2:100381460-100381461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568147710	chr2:100381463-100381464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540385029	chr2:100381489-100381490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146325704	chr2:100381499-100381500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377551182	chr2:100381533-100381534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577079407	chr2:100381584-100381585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139642152	chr2:100381667-100381668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556137697	chr2:100381669-100381670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562372179	chr2:100381683-100381684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575640458	chr2:100381769-100381770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544271083	chr2:100381807-100381808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371035734	chr2:100381835-100381836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561466603	chr2:100381844-100381845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6542891	chr2:100381896-100381897	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540299992	chr2:100381946-100381947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576965535	chr2:100381969-100381970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560328152	chr2:100381986-100381987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532525396	chr2:100382009-100382010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552883452	chr2:100382080-100382081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544489038	chr2:100382095-100382096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113022502	chr2:100382132-100382133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563034446	chr2:100382147-100382148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149980480	chr2:100382194-100382195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547857353	chr2:100382214-100382215	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568034740	chr2:100382267-100382268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368404244	chr2:100382283-100382284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191882609	chr2:100382311-100382312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145150982	chr2:100382335-100382336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541821310	chr2:100382370-100382371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183416176	chr2:100382385-100382386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560207890	chr2:100382408-100382409	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1644 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100383400	Weak transcription	Ovary	ovary
3	chr2:100360000-100394600	Weak transcription	Dnd41	blood
4	chr2:100360200-100385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:100367800-100386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:100373200-100386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:100374600-100382400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:100377400-100381600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:100377800-100386800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100379000-100382400	Enhancers	Fetal Brain Female	brain
11	chr2:100379600-100381000	Enhancers	GM12878-XiMat	blood
12	chr2:100379600-100381400	Weak transcription	Fetal Lung	lung
13	chr2:100379800-100386400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:100380000-100381000	Enhancers	Liver	Liver
15	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:100380600-100381000	Weak transcription	Fetal Brain Male	brain
17	chr2:100381000-100383000	Enhancers	Fetal Brain Male	brain
18	chr2:100381600-100383400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:100381800-100384200	Enhancers	Placenta	Placenta
20	chr2:100382200-100383800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:100382400-100382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:100382400-100383000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:100382400-100383400	Weak transcription	Fetal Brain Female	brain
24	chr2:100382400-100386200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:100383000-100383600	Weak transcription	Fetal Brain Male	brain
27	chr2:100383400-100383600	Enhancers	Fetal Brain Female	brain
28	chr2:100383400-100383800	Enhancers	Ovary	ovary
29	chr2:100383400-100385400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:100383600-100384200	Enhancers	Fetal Brain Male	brain
31	chr2:100383800-100388600	Weak transcription	Ovary	ovary
32	chr2:100384000-100384200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:100384200-100386400	Weak transcription	Placenta	Placenta
34	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:100385200-100385800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:100385400-100387200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr2:100385800-100386400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:100385800-100386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:100386000-100387400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:100386200-100390000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:100386400-100386800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:100386400-100387200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:100386400-100387400	Enhancers	Placenta	Placenta
44	chr2:100386400-100388000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:100386400-100388200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:100386400-100389600	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:100386600-100386800	Enhancers	Right Atrium	heart
48	chr2:100386600-100387200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:100386600-100387400	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:100386600-100388800	Weak transcription	Fetal Kidney	kidney

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