Variant report

Variant	nsv964622
Chromosome Location	chr22:31953885-31956099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:31955304-31955389	GM13976	blood:	n/a	n/a
2	POLR2A	chr22:31955507-31955827	GM12878	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31936958-31958600..22:32860159-32865649	K562	blood:
2	22:31936958-31958600..22:32292186-32294405	K562	blood:
3	22:31936958-31958600..22:32868055-32872511	K562	blood:
4	chr22:31955506..31958197-chr22:32020735..32022732,2	MCF-7	breast:
5	chr22:31955553..31958257-chr22:31980841..31983797,2	MCF-7	breast:
6	22:31936958-31958600..22:32053085-32061138	Hela-S3	cervix:
7	22:31936958-31958600..22:32477762-32487457	Hela-S3	cervix:
8	22:31936958-31958600..22:32338420-32342898	K562	blood:
9	22:31936958-31958600..22:32342898-32343477	GM12878	blood:
10	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
11	22:31936958-31958600..22:31978142-31983723	K562	blood:
12	chr22:31951704..31954634-chr22:31955537..31958557,4	MCF-7	breast:
13	22:31936958-31958600..22:32170492-32188129	GM12878	blood:
14	22:31836635-31847259..22:31936958-31958600	GM12878	blood:
15	22:31936958-31958600..22:32264718-32278135	Hela-S3	cervix:
16	22:31936958-31958600..22:32764253-32784733	K562	blood:
17	chr22:31955880..31960409-chr22:32022179..32027539,5	K562	blood:
18	chr22:31951704..31954634-chr22:31955537..31958557,4	MCF-7	breast:
19	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
20	22:31936958-31958600..22:32740683-32750950	Hela-S3	cervix:
21	22:31936958-31958600..22:33262063-33266567	K562	blood:
22	chr22:31952629..31954536-chr22:32025610..32028479,3	MCF-7	breast:
23	22:31936958-31958600..22:32594665-32606395	K562	blood:
24	22:31936958-31958600..22:32750950-32761732	Hela-S3	cervix:
25	22:31936958-31958600..22:32228866-32235273	K562	blood:
26	22:31936958-31958600..22:32162110-32166713	GM12878	blood:
27	chr22:31950555..31952408-chr22:31956023..31958715,2	K562	blood:
28	22:31936958-31958600..22:32188129-32210582	K562	blood:
29	chr22:31955933..31957591-chr22:32026325..32028274,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214093	TF binding region
ENSG00000230736	chromatin interactions
ENSG00000242082	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000252909	chromatin interactions
ENSG00000100170	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000254127	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000128253	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000241954	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5998042	chr22:31953962-31953963	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369348754	chr22:31953964-31953965	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs142683233	chr22:31953969-31953970	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs550136296	chr22:31953998-31953999	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs546970735	chr22:31954002-31954003	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs184905726	chr22:31954069-31954070	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs536123432	chr22:31954089-31954090	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs150598227	chr22:31954104-31954105	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs190897501	chr22:31954105-31954106	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs183438247	chr22:31954120-31954121	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs5998043	chr22:31954142-31954143	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs376229641	chr22:31954148-31954149	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs576815163	chr22:31954179-31954180	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs539154506	chr22:31954195-31954196	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs187709897	chr22:31954204-31954205	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
16	rs572527214	chr22:31954212-31954213	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
17	rs370875970	chr22:31954221-31954222	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs541451648	chr22:31954224-31954225	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs73400214	chr22:31954255-31954256	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558553062	chr22:31954356-31954357	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs575536053	chr22:31954360-31954361	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs543306404	chr22:31954455-31954456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs544073604	chr22:31954462-31954463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
24	rs564310016	chr22:31954470-31954471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
25	rs199593517	chr22:31954471-31954472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
26	rs192962388	chr22:31954535-31954536	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
27	rs183566511	chr22:31954566-31954567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs376516271	chr22:31954588-31954589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
29	rs575435867	chr22:31954606-31954607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs560484388	chr22:31954608-31954609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs9621281	chr22:31954668-31954669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188054007	chr22:31954675-31954676	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs192833805	chr22:31954676-31954677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs113376947	chr22:31954753-31954754	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs113840806	chr22:31954754-31954755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs551674749	chr22:31954800-31954801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs145205163	chr22:31954825-31954826	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs539126005	chr22:31954827-31954828	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs141278075	chr22:31954842-31954843	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs183787376	chr22:31954888-31954889	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs76004575	chr22:31954891-31954892	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs146846483	chr22:31954995-31954996	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs111269754	chr22:31955015-31955016	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs140681398	chr22:31955039-31955040	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs544533964	chr22:31955083-31955084	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs564109999	chr22:31955105-31955106	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs577937618	chr22:31955160-31955161	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
48	rs35771827	chr22:31955166-31955167	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs8135043	chr22:31955180-31955181	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
50	rs8142187	chr22:31955197-31955198	Weak transcription Strong transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Breast cancer	17142309	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
3	chr22:31905200-31957200	Weak transcription	A549	lung
4	chr22:31925800-31957200	Weak transcription	Brain Angular Gyrus	brain
5	chr22:31927400-31961400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31927400-31970000	Weak transcription	NH-A	brain
7	chr22:31927400-31970200	Weak transcription	Fetal Lung	lung
8	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
9	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
10	chr22:31927600-31974200	Weak transcription	Small Intestine	intestine
11	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
12	chr22:31933200-31971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
14	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31935400-31957200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:31935600-31970000	Weak transcription	HMEC	breast
18	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:31941200-31957200	Weak transcription	Right Ventricle	heart
20	chr22:31941400-31981400	Weak transcription	NHEK	skin
21	chr22:31946400-31957200	Weak transcription	Stomach Mucosa	stomach
22	chr22:31946800-31957000	Weak transcription	HepG2	liver
23	chr22:31946800-31957400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:31947000-31954600	Weak transcription	Fetal Intestine Small	intestine
25	chr22:31947000-31970200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:31947000-31970200	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:31947200-31955400	Weak transcription	HSMM	muscle
28	chr22:31947200-31969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:31947400-31954400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:31947400-31955200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:31947400-31957200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:31947400-31957200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31947400-31968200	Weak transcription	Brain Germinal Matrix	brain
34	chr22:31947400-31968800	Weak transcription	Gastric	stomach
35	chr22:31947400-31968800	Weak transcription	Pancreas	Pancrea
36	chr22:31947400-31969000	Weak transcription	Fetal Brain Female	brain
37	chr22:31947400-31969000	Weak transcription	Lung	lung
38	chr22:31947400-31969200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:31947400-31970200	Weak transcription	Ovary	ovary
40	chr22:31947400-31971000	Weak transcription	Aorta	Aorta
41	chr22:31947400-31972800	Weak transcription	Esophagus	oesophagus
42	chr22:31947600-31957200	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:31947800-31957200	Weak transcription	Brain Anterior Caudate	brain
44	chr22:31947800-31957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:31947800-31961800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:31947800-31968800	Weak transcription	Spleen	Spleen
47	chr22:31947800-31969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:31947800-31969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:31947800-31970200	Weak transcription	Fetal Intestine Large	intestine
50	chr22:31947800-31970200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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