Variant report

Variant	nsv966102
Chromosome Location	chr22:31049706-31050816
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	ELF1	chr22:31050420-31050686	K562	blood:	n/a	chr22:31050568-31050581
2	POLR2A	chr22:31049894-31050031	HUVEC	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PES1-1	chr22:31049864-31049958	NONHSAT084796
2	lnc-PES1-1	chr22:31050285-31050801	NONHSAT084796

Variant related genes	Relation type
ENSG00000250318	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573266047	chr22:31049806-31049807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146566619	chr22:31049853-31049854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566492456	chr22:31049923-31049924	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs5997722	chr22:31049933-31049934	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200321738	chr22:31049959-31049960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555150096	chr22:31049960-31049961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200352918	chr22:31049964-31049965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537638456	chr22:31049968-31049969	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71814511	chr22:31049972-31049973	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186840932	chr22:31049993-31049994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368700520	chr22:31050053-31050054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550011042	chr22:31050064-31050065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191321874	chr22:31050068-31050069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62235874	chr22:31050107-31050108	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186638773	chr22:31050108-31050109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573675514	chr22:31050116-31050117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542645847	chr22:31050124-31050125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191599344	chr22:31050129-31050130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370196864	chr22:31050133-31050134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531881405	chr22:31050144-31050145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1807507	chr22:31050162-31050163	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565486157	chr22:31050196-31050197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527957150	chr22:31050250-31050251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548133331	chr22:31050262-31050263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143206465	chr22:31050263-31050264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144801484	chr22:31050264-31050265	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549007988	chr22:31050266-31050267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568810337	chr22:31050285-31050286	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs16988936	chr22:31050292-31050293	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560318624	chr22:31050294-31050295	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs571130640	chr22:31050321-31050322	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs533765392	chr22:31050323-31050324	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs553634791	chr22:31050324-31050325	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs573638407	chr22:31050328-31050329	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs62235875	chr22:31050350-31050351	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542609067	chr22:31050367-31050368	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs556525271	chr22:31050370-31050371	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576419444	chr22:31050376-31050377	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs183294311	chr22:31050459-31050460	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs565310687	chr22:31050479-31050480	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372851461	chr22:31050491-31050492	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs5997724	chr22:31050502-31050503	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16988939	chr22:31050525-31050526	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs530418778	chr22:31050610-31050611	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs548658201	chr22:31050698-31050699	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs113430607	chr22:31050702-31050703	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs116368214	chr22:31050706-31050707	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs531278252	chr22:31050708-31050709	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs757027	chr22:31050715-31050716	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142017342	chr22:31050720-31050721	Enhancers Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Autism	22495309	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
5	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
6	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
8	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
9	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
13	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:31043600-31055400	Weak transcription	Fetal Stomach	stomach
15	chr22:31043800-31051600	Weak transcription	Primary T cells from cord blood	blood
16	chr22:31044200-31050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:31044200-31057600	Weak transcription	Ovary	ovary
18	chr22:31044200-31058000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:31045400-31057600	Weak transcription	Colonic Mucosa	Colon
21	chr22:31045400-31057600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:31045400-31062800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:31045400-31062800	Weak transcription	NH-A	brain
24	chr22:31045600-31058200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:31045600-31062800	Weak transcription	HSMMtube	muscle
26	chr22:31045800-31050200	Weak transcription	Spleen	Spleen
27	chr22:31045800-31050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:31045800-31057600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:31045800-31057800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:31045800-31061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:31045800-31062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:31046000-31050200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr22:31046000-31054800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:31046000-31057600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:31046000-31057600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31046000-31057600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:31046000-31057600	Weak transcription	NHDF-Ad	bronchial
38	chr22:31046000-31057800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:31046000-31057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:31046000-31057800	Weak transcription	Osteobl	bone
41	chr22:31046000-31058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:31046000-31058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:31046000-31062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:31046000-31062200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:31046000-31062600	Weak transcription	HMEC	breast
46	chr22:31046000-31062600	Weak transcription	NHLF	lung
47	chr22:31046800-31050200	Weak transcription	Brain Germinal Matrix	brain
48	chr22:31046800-31057600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr22:31046800-31057600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:31046800-31057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links