Variant report

Variant	nsv979247
Chromosome Location	chr2:98164562-98167992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
3	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
4	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
5	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
6	FOS	chr2:98166978-98167179	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:98166971-98167201	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:98166898-98167205	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
10	FOS	chr2:98166971-98167178	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:98166971-98167202	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
13	JUN	chr2:98166960-98167204	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr2:98166974-98167199	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr2:98166951-98167300	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
17	POU2F2	chr2:98167085-98167399	GM12878	blood:	n/a	n/a
18	SPI1	chr2:98167097-98167422	K562	blood:	n/a	n/a
19	SPI1	chr2:98167165-98167492	GM12878	blood:	n/a	n/a
20	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
21	SPI1	chr2:98167096-98167528	GM12891	blood:	n/a	n/a
22	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
23	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
24	SPI1	chr2:98167042-98167578	GM12891	blood:	n/a	n/a
25	SPI1	chr2:98167105-98167520	GM12878	blood:	n/a	n/a
26	SPI1	chr2:98167113-98167348	K562	blood:	n/a	n/a
27	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
28	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
29	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
30	STAT3	chr2:98166975-98167175	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB33	chr2:98165759-98165895	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-5	chr2:98164470-98165954	NONHSAT072653
2	lnc-ACTR1B-5	chr2:98166049-98166705	NONHSAT072653

No data

Variant related genes	Relation type
ANKRD36B	TF binding region

Extended variants
information (count: 182 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13420962	chr2:98164576-98164577	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11688454	chr2:98164580-98164581	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560470951	chr2:98164581-98164582	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532110387	chr2:98164693-98164694	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs552209683	chr2:98164731-98164732	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568814414	chr2:98164745-98164746	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs55809737	chr2:98164749-98164750	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs537993111	chr2:98164802-98164803	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs548488071	chr2:98164808-98164809	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs568672118	chr2:98164810-98164811	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs534202483	chr2:98164833-98164834	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs554018553	chr2:98164856-98164857	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577137561	chr2:98164869-98164870	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs7592057	chr2:98164948-98164949	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs60301359	chr2:98165011-98165012	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7603210	chr2:98165047-98165048	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	mRNA abundance
17	rs542341192	chr2:98165081-98165082	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs554443158	chr2:98165096-98165097	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs574546920	chr2:98165120-98165121	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs111979319	chr2:98165142-98165143	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs540442865	chr2:98165174-98165175	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs560447707	chr2:98165200-98165201	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs532450560	chr2:98165212-98165213	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs571784647	chr2:98165226-98165227	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs575733971	chr2:98165229-98165230	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs562546106	chr2:98165232-98165233	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs531291374	chr2:98165268-98165269	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs548294315	chr2:98165331-98165332	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs188997580	chr2:98165358-98165359	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs527847648	chr2:98165372-98165373	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs113891846	chr2:98165415-98165416	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs547596398	chr2:98165416-98165417	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs570765136	chr2:98165449-98165450	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs113807924	chr2:98165462-98165463	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs539782888	chr2:98165465-98165466	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs556266377	chr2:98165537-98165538	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs570058190	chr2:98165582-98165583	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs535500025	chr2:98165603-98165604	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs555796303	chr2:98165634-98165635	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113435370	chr2:98165711-98165712	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs572456966	chr2:98165716-98165717	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs201752448	chr2:98165721-98165722	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563915741	chr2:98165731-98165732	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs554056983	chr2:98165739-98165740	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs180996758	chr2:98165783-98165784	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs546153741	chr2:98165796-98165797	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs562322963	chr2:98165798-98165799	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs34887453	chr2:98165807-98165808	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs372276073	chr2:98165837-98165838	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs531636902	chr2:98165856-98165857	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	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
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
21	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
22	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
25	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:98155400-98165200	Weak transcription	Liver	Liver
27	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:98156400-98165000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:98156400-98168000	Weak transcription	Ovary	ovary
30	chr2:98156800-98168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:98156800-98168000	Weak transcription	HSMM	muscle
32	chr2:98156800-98204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:98158200-98167400	Weak transcription	Osteobl	bone
34	chr2:98160200-98165400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:98160200-98205800	Weak transcription	K562	blood
36	chr2:98160800-98175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:98161000-98167600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:98161200-98165000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:98161200-98165400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:98161200-98171000	Weak transcription	HMEC	breast
41	chr2:98161400-98165000	Weak transcription	Fetal Brain Male	brain
42	chr2:98161400-98165400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:98161400-98165400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:98161400-98166200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:98161400-98167400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:98161400-98167400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:98161400-98167600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:98161400-98168000	Weak transcription	NHDF-Ad	bronchial
49	chr2:98161400-98171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:98161400-98172600	Weak transcription	Aorta	Aorta

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