Variant report

Variant	nsv1002366
Chromosome Location	chr2:98877050-98904494
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98422785..98423811-chr2:98885571..98886436,3	MCF-7	breast:
2	chr2:98316350..98317297-chr2:98885417..98886570,3	MCF-7	breast:
3	chr2:98611818..98613602-chr2:98884042..98885781,2	MCF-7	breast:
4	chr2:98888964..98890849-chr2:98892080..98893734,2	K562	blood:
5	chr2:98326087..98326680-chr2:98885400..98886287,2	MCF-7	breast:
6	chr2:98424321..98425194-chr2:98885366..98886224,2	K562	blood:
7	chr2:98888964..98890849-chr2:98892080..98893734,2	K562	blood:
8	chr2:98885600..98886159-chr2:99001199..99001715,2	MCF-7	breast:
9	chr2:98903777..98907619-chr2:98918307..98922639,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 880 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62156742	chr2:98877050-98877051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75933467	chr2:98877051-98877052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552676873	chr2:98877052-98877053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569124409	chr2:98877054-98877055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531617537	chr2:98877093-98877094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550411557	chr2:98877094-98877095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567230422	chr2:98877121-98877122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536179013	chr2:98877175-98877176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559806489	chr2:98877207-98877208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140220302	chr2:98877245-98877246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538339358	chr2:98877279-98877280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576419650	chr2:98877318-98877319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558633476	chr2:98877350-98877351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72817792	chr2:98877361-98877362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544236548	chr2:98877362-98877363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79155229	chr2:98877412-98877413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575206776	chr2:98877536-98877537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540951779	chr2:98877562-98877563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574386158	chr2:98877604-98877605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560506724	chr2:98877610-98877611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145260511	chr2:98877612-98877613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545952258	chr2:98877613-98877614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541702864	chr2:98877622-98877623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189792326	chr2:98877646-98877647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548164214	chr2:98877653-98877654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568162883	chr2:98877709-98877710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116810424	chr2:98877721-98877722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34059371	chr2:98877758-98877759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546906090	chr2:98877766-98877767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551864735	chr2:98877783-98877784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182085819	chr2:98877798-98877799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570757631	chr2:98877804-98877805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146433670	chr2:98877855-98877856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76931723	chr2:98877856-98877857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149106729	chr2:98877884-98877885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537986586	chr2:98877897-98877898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563718035	chr2:98877901-98877902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554585743	chr2:98877957-98877958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574522010	chr2:98877979-98877980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77469904	chr2:98878032-98878033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577317145	chr2:98878037-98878038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546385704	chr2:98878038-98878039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562779587	chr2:98878047-98878048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576122771	chr2:98878075-98878076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568271785	chr2:98878092-98878093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77860410	chr2:98878136-98878137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561731039	chr2:98878263-98878264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143211797	chr2:98878308-98878309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187783523	chr2:98878331-98878332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560406137	chr2:98878358-98878359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98875400-98878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:98878000-98880400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:98885400-98887200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:98885600-98886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:98885600-98886200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:98885600-98886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:98885600-98886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:98885600-98886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:98885600-98892200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:98885800-98886000	Enhancers	Colon Smooth Muscle	Colon
11	chr2:98885800-98886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:98885800-98886600	Enhancers	Aorta	Aorta
13	chr2:98886000-98886400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:98886000-98886400	Enhancers	Psoas Muscle	Psoas
15	chr2:98886000-98886800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:98886000-98886800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:98886000-98886800	Enhancers	Fetal Stomach	stomach
18	chr2:98886000-98886800	Enhancers	Ovary	ovary
19	chr2:98886000-98887000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:98886000-98887000	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:98886000-98887400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:98886200-98886600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:98886400-98886600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:98886400-98887200	Weak transcription	Psoas Muscle	Psoas
25	chr2:98886800-98887200	Weak transcription	Ovary	ovary
26	chr2:98886800-98888400	Enhancers	Colon Smooth Muscle	Colon
27	chr2:98887000-98887400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:98887200-98887400	Enhancers	Ovary	ovary
29	chr2:98887200-98887400	Enhancers	Psoas Muscle	Psoas
30	chr2:98887400-98888400	Weak transcription	Ovary	ovary
31	chr2:98887400-98888400	Weak transcription	Psoas Muscle	Psoas
32	chr2:98887400-98888600	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:98888400-98888600	Enhancers	Psoas Muscle	Psoas
34	chr2:98888400-98888800	Enhancers	Ovary	ovary
35	chr2:98888800-98897000	Weak transcription	Ovary	ovary
36	chr2:98890800-98891000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:98890800-98891000	Enhancers	Brain Germinal Matrix	brain
38	chr2:98891000-98894200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:98891200-98893000	Weak transcription	Brain Germinal Matrix	brain
40	chr2:98892400-98892600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:98892600-98893800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:98893000-98894200	Enhancers	Brain Germinal Matrix	brain
43	chr2:98893200-98893400	Enhancers	Right Ventricle	heart
44	chr2:98893400-98893600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr2:98893400-98894200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:98893400-98894200	Enhancers	Fetal Muscle Leg	muscle
47	chr2:98893600-98894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:98893600-98894200	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:98893600-98894400	Enhancers	Fetal Kidney	kidney
50	chr2:98893600-98895600	Enhancers	Placenta	Placenta

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