Variant report

Variant	nsv522709
Chromosome Location	chr22:34124976-34131153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr22:34125601-34125945	SH-SY5Y	brain:	n/a	n/a
2	JUN	chr22:34130194-34130203	HepG2	liver:	n/a	n/a
3	JUND	chr22:34130090-34130220	HepG2	liver:	n/a	n/a
4	MAFF	chr22:34124873-34125218	HepG2	liver:	n/a	chr22:34125184-34125198
5	MAFK	chr22:34127721-34127852	HepG2	liver:	n/a	n/a
6	MAFK	chr22:34124878-34125296	HepG2	liver:	n/a	chr22:34125181-34125201 chr22:34125184-34125198 chr22:34125183-34125199
7	MAFK	chr22:34124877-34125213	IMR90	lung:	n/a	chr22:34125181-34125201 chr22:34125184-34125198 chr22:34125183-34125199
8	MAFK	chr22:34124864-34125214	HepG2	liver:	n/a	chr22:34125181-34125201 chr22:34125184-34125198 chr22:34125183-34125199
9	MAFK	chr22:34124966-34125073	K562	blood:	n/a	n/a
10	MYC	chr22:34125971-34126004	MCF-7	breast:	n/a	n/a
11	POLR2A	chr22:34130282-34130287	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:34128411-34128496	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:34130275-34130339	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:34128881-34129030	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:34127487-34128131	K562	blood:	n/a	n/a
16	POLR2A	chr22:34130181-34130206	MCF-7	breast:	n/a	n/a
17	POLR2A	chr22:34130272-34130496	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:34125825-34126129	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr22:34129354-34129569	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:34130293-34130602	K562	blood:	n/a	n/a
21	POLR2A	chr22:34125944-34126009	MCF-7	breast:	n/a	n/a
22	POLR2A	chr22:34128815-34129100	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr22:34129905-34130198	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr22:34128062-34128267	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-6	chr22:34128242-34129671	ENSG00000224973.1
2	lnc-TIMP3-6	chr22:34128242-34128488	ENSG00000224973.1
3	lnc-TIMP3-6	chr22:34128242-34129671	NONHSAT085011
4	lnc-TIMP3-6	chr22:34128267-34128635	NONHSAT085018
5	lnc-TIMP3-6	chr22:34128242-34129671	ENSG00000224973.1
6	lnc-TIMP3-6	chr22:34128242-34129671	NONHSAT085013

Variant related genes	Relation type
LARGE-IT1	TF binding region

Extended variants
information (count: 275 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs19964	chr22:34124976-34124977	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34188470	chr22:34124978-34124979	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149487454	chr22:34125015-34125016	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143915805	chr22:34125058-34125059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115494451	chr22:34125072-34125073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142801763	chr22:34125075-34125076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371991843	chr22:34125164-34125165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569978175	chr22:34125166-34125167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547988840	chr22:34125194-34125195	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147440803	chr22:34125206-34125207	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530244901	chr22:34125208-34125209	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139744328	chr22:34125264-34125265	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550286994	chr22:34125333-34125334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559087184	chr22:34125339-34125340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374238113	chr22:34125345-34125346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570119975	chr22:34125411-34125412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539045760	chr22:34125483-34125484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377136973	chr22:34125486-34125487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182247483	chr22:34125487-34125488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544650373	chr22:34125541-34125542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376901917	chr22:34125566-34125567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535925530	chr22:34125595-34125596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553967522	chr22:34125678-34125679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573746612	chr22:34125681-34125682	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs239324	chr22:34125718-34125719	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150829183	chr22:34125728-34125729	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs16992904	chr22:34125816-34125817	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139232479	chr22:34125847-34125848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564511408	chr22:34125848-34125849	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs572723284	chr22:34125882-34125883	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150010141	chr22:34125903-34125904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188008902	chr22:34125913-34125914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550358713	chr22:34125959-34125960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191028746	chr22:34125960-34125961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532626446	chr22:34125967-34125968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565876528	chr22:34125968-34125969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146575607	chr22:34125983-34125984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565921126	chr22:34125989-34125990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141370849	chr22:34125991-34125992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547373904	chr22:34125992-34125993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567505352	chr22:34125995-34125996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371682749	chr22:34125996-34125997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555905584	chr22:34126003-34126004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575753593	chr22:34126039-34126040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183820838	chr22:34126078-34126079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143782403	chr22:34126087-34126088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571935955	chr22:34126100-34126101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188414763	chr22:34126105-34126106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11913355	chr22:34126130-34126131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575045512	chr22:34126164-34126165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
4	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:34120200-34125600	Weak transcription	Gastric	stomach
7	chr22:34120200-34125800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:34120200-34135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:34120400-34135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:34120800-34127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:34121200-34125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:34121200-34125800	Weak transcription	Spleen	Spleen
13	chr22:34121600-34125600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:34121600-34128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:34121600-34130000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:34121600-34136800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr22:34122800-34125600	Weak transcription	Lung	lung
18	chr22:34122800-34125600	Weak transcription	Psoas Muscle	Psoas
19	chr22:34122800-34129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:34123000-34126200	Enhancers	Fetal Heart	heart
21	chr22:34123000-34128000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:34123000-34128200	Weak transcription	NHEK	skin
23	chr22:34123200-34152000	Weak transcription	Aorta	Aorta
24	chr22:34123600-34126800	Weak transcription	NHLF	lung
25	chr22:34123800-34128000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:34123800-34129400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:34123800-34140800	Weak transcription	Fetal Stomach	stomach
28	chr22:34124000-34125600	Weak transcription	Right Atrium	heart
29	chr22:34124000-34128600	Weak transcription	Colonic Mucosa	Colon
30	chr22:34124200-34125600	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:34124600-34126200	Enhancers	Fetal Lung	lung
32	chr22:34124800-34125200	Enhancers	Stomach Mucosa	stomach
33	chr22:34124800-34125600	Weak transcription	Left Ventricle	heart
34	chr22:34124800-34125600	Weak transcription	Pancreas	Pancrea
35	chr22:34124800-34125600	Weak transcription	Right Ventricle	heart
36	chr22:34124800-34128800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:34124800-34128800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr22:34124800-34133000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr22:34124800-34171000	Weak transcription	Ovary	ovary
40	chr22:34125200-34127200	Weak transcription	Stomach Mucosa	stomach
41	chr22:34125600-34125800	Enhancers	Colon Smooth Muscle	Colon
42	chr22:34125600-34126000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:34125600-34126000	Enhancers	Fetal Brain Male	brain
44	chr22:34125600-34126000	Enhancers	Lung	lung
45	chr22:34125600-34126000	Enhancers	Pancreas	Pancrea
46	chr22:34125600-34126000	Enhancers	Psoas Muscle	Psoas
47	chr22:34125600-34126000	Enhancers	Right Atrium	heart
48	chr22:34125600-34126000	Enhancers	Right Ventricle	heart
49	chr22:34125600-34126200	Enhancers	Gastric	stomach
50	chr22:34125600-34126200	Enhancers	Left Ventricle	heart

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