Variant report

Variant	nsv10102
Chromosome Location	chr2:98164383-98166875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
2	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
3	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
5	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
6	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
7	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
8	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
9	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
10	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
11	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
12	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
13	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
14	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	chr2:98166049-98166705	NONHSAT072653
2	lnc-ACTR1B-5	chr2:98164470-98165954	NONHSAT072653

No data

Variant related genes	Relation type
ANKRD36B	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11691967	chr2:98164389-98164390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs550769834	chr2:98164397-98164398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11683920	chr2:98164409-98164410	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs546607365	chr2:98164414-98164415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13423897	chr2:98164426-98164427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538715513	chr2:98164454-98164455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371915759	chr2:98164472-98164473	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs188582614	chr2:98164476-98164477	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs571166993	chr2:98164478-98164479	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs181419527	chr2:98164508-98164509	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs114569772	chr2:98164509-98164510	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555150125	chr2:98164516-98164517	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141055278	chr2:98164517-98164518	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534549646	chr2:98164519-98164520	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553734877	chr2:98164521-98164522	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs11688407	chr2:98164532-98164533	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs73959746	chr2:98164533-98164534	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs56722094	chr2:98164535-98164536	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs576493043	chr2:98164545-98164546	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs185265593	chr2:98164556-98164557	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561174716	chr2:98164557-98164558	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs13420962	chr2:98164576-98164577	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11688454	chr2:98164580-98164581	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560470951	chr2:98164581-98164582	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532110387	chr2:98164693-98164694	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552209683	chr2:98164731-98164732	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs568814414	chr2:98164745-98164746	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs55809737	chr2:98164749-98164750	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs537993111	chr2:98164802-98164803	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs548488071	chr2:98164808-98164809	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs568672118	chr2:98164810-98164811	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs534202483	chr2:98164833-98164834	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs554018553	chr2:98164856-98164857	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs577137561	chr2:98164869-98164870	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs7592057	chr2:98164948-98164949	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs60301359	chr2:98165011-98165012	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7603210	chr2:98165047-98165048	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	mRNA abundance
38	rs542341192	chr2:98165081-98165082	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554443158	chr2:98165096-98165097	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs574546920	chr2:98165120-98165121	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs111979319	chr2:98165142-98165143	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs540442865	chr2:98165174-98165175	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs560447707	chr2:98165200-98165201	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs532450560	chr2:98165212-98165213	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs571784647	chr2:98165226-98165227	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs575733971	chr2:98165229-98165230	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs562546106	chr2:98165232-98165233	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs531291374	chr2:98165268-98165269	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs548294315	chr2:98165331-98165332	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs188997580	chr2:98165358-98165359	Weak transcription Strong transcription Genic enhancers 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:174 , 50 per page) page: 1 2 3 4

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links