Variant report

Variant	esv3693390
Chromosome Location	chr2:98862097-98886666
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	chr2:98611818..98613602-chr2:98884042..98885781,2	MCF-7	breast:
2	chr2:98422785..98423811-chr2:98885571..98886436,3	MCF-7	breast:
3	chr2:98885600..98886159-chr2:99001199..99001715,2	MCF-7	breast:
4	chr2:98316350..98317297-chr2:98885417..98886570,3	MCF-7	breast:
5	chr2:98424321..98425194-chr2:98885366..98886224,2	K562	blood:
6	chr2:98326087..98326680-chr2:98885400..98886287,2	MCF-7	breast:
7	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:
8	chr2:98611658..98614514-chr2:98866353..98868181,2	K562	blood:
9	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 537 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548498793	chr2:98864907-98864908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368118487	chr2:98864944-98864945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527772468	chr2:98864955-98864956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547515234	chr2:98864990-98864991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570500667	chr2:98865065-98865066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539464911	chr2:98865107-98865108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370574871	chr2:98865131-98865132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569060924	chr2:98865181-98865182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185923959	chr2:98865190-98865191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62156722	chr2:98865196-98865197	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574622653	chr2:98865216-98865217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374568503	chr2:98865232-98865233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533849839	chr2:98865240-98865241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553944143	chr2:98865249-98865250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190691409	chr2:98865257-98865258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530082145	chr2:98865286-98865287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539845951	chr2:98865293-98865294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367600105	chr2:98865299-98865300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182847888	chr2:98865304-98865305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548841173	chr2:98865309-98865310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76556208	chr2:98865312-98865313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373504011	chr2:98865313-98865314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77401580	chr2:98865316-98865317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75873853	chr2:98865320-98865321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200183139	chr2:98865327-98865328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78889552	chr2:98865328-98865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77481767	chr2:98865330-98865331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368684828	chr2:98865331-98865332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542778639	chr2:98865332-98865333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79284063	chr2:98865334-98865335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397985266	chr2:98865335-98865336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200306035	chr2:98865339-98865340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200238475	chr2:98865340-98865341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201469181	chr2:98865342-98865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67307713	chr2:98865343-98865344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199655767	chr2:98865344-98865345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66488415	chr2:98865345-98865346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201467379	chr2:98865346-98865347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201227686	chr2:98865348-98865349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397809293	chr2:98865349-98865350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74812533	chr2:98865367-98865368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563148871	chr2:98865370-98865371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79400634	chr2:98865376-98865377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145705950	chr2:98865377-98865378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76948961	chr2:98865380-98865381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566836033	chr2:98865468-98865469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139668292	chr2:98865489-98865490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542547536	chr2:98865534-98865535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562136821	chr2:98865568-98865569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149777792	chr2:98865569-98865570	Weak transcription	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98864800-98865200	ZNF genes & repeats	Psoas Muscle	Psoas
2	chr2:98865000-98865200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:98865200-98870000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:98867600-98868200	Enhancers	Brain Germinal Matrix	brain
5	chr2:98868200-98868800	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr2:98868200-98870200	Enhancers	Fetal Brain Female	brain
7	chr2:98868400-98869400	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:98868400-98870400	Enhancers	Fetal Brain Male	brain
9	chr2:98868600-98869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:98868600-98869400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:98868600-98869400	Enhancers	GM12878-XiMat	blood
12	chr2:98868800-98869400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:98868800-98870400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:98868800-98870600	Enhancers	Brain Germinal Matrix	brain
15	chr2:98869000-98870800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:98869800-98870400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:98869800-98870400	Enhancers	Brain Angular Gyrus	brain
18	chr2:98869800-98870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:98869800-98870600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:98869800-98871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:98869800-98871400	Enhancers	Ovary	ovary
22	chr2:98870000-98870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:98870000-98870600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:98870000-98870800	Enhancers	Esophagus	oesophagus
25	chr2:98870200-98871200	Weak transcription	Fetal Brain Female	brain
26	chr2:98871000-98872000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:98871200-98871400	Enhancers	Fetal Brain Female	brain
28	chr2:98872000-98872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:98872000-98872200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:98875400-98878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:98878000-98880400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:98885400-98887200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:98885600-98886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:98885600-98886200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:98885600-98886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:98885600-98886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:98885600-98886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:98885600-98892200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:98885800-98886000	Enhancers	Colon Smooth Muscle	Colon
40	chr2:98885800-98886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:98885800-98886600	Enhancers	Aorta	Aorta
42	chr2:98886000-98886400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:98886000-98886400	Enhancers	Psoas Muscle	Psoas
44	chr2:98886000-98886800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:98886000-98886800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:98886000-98886800	Enhancers	Fetal Stomach	stomach
47	chr2:98886000-98886800	Enhancers	Ovary	ovary
48	chr2:98886000-98887000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:98886000-98887000	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:98886000-98887400	Enhancers	Rectal Smooth Muscle	rectum

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