Variant report

Variant	nsv1064781
Chromosome Location	chr22:34152145-34231792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:
2	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:
3	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
4	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:
5	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:
6	chr22:34181411..34183196-chr22:34314966..34317332,2	MCF-7	breast:
7	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:
8	chr22:34172664..34173221-chr22:34313368..34314036,2	MCF-7	breast:
9	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
10	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:
11	chr22:34153944..34154522-chr22:34255921..34256610,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3544 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3544 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558968273	chr22:34152196-34152197	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575241576	chr22:34152290-34152291	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189308157	chr22:34152302-34152303	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182150180	chr22:34152345-34152346	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536938375	chr22:34152351-34152352	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145917667	chr22:34152358-34152359	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573585597	chr22:34152414-34152415	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372398893	chr22:34152439-34152440	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542456939	chr22:34152477-34152478	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73402891	chr22:34152496-34152497	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576143690	chr22:34152506-34152507	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553677942	chr22:34152512-34152513	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533544905	chr22:34152525-34152526	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564965027	chr22:34152526-34152527	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138470360	chr22:34152528-34152529	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573110609	chr22:34152553-34152554	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554740746	chr22:34152595-34152596	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374112387	chr22:34152619-34152620	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530415058	chr22:34152624-34152625	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs454267	chr22:34152653-34152654	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs415551	chr22:34152661-34152662	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539190109	chr22:34152744-34152745	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373632966	chr22:34152745-34152746	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552414588	chr22:34152750-34152751	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566146150	chr22:34152764-34152765	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534733705	chr22:34152773-34152774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376838660	chr22:34152798-34152799	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554535787	chr22:34152863-34152864	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76561554	chr22:34152864-34152865	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536148369	chr22:34152874-34152875	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556386380	chr22:34152884-34152885	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370701890	chr22:34152891-34152892	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140829938	chr22:34152893-34152894	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs491508	chr22:34152899-34152900	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549590470	chr22:34152907-34152908	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574338204	chr22:34152914-34152915	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80213	chr22:34152919-34152920	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541073817	chr22:34152935-34152936	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144615964	chr22:34152939-34152940	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529674559	chr22:34152941-34152942	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560405893	chr22:34152945-34152946	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138362473	chr22:34152949-34152950	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149273676	chr22:34152952-34152953	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10483174	chr22:34152976-34152977	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73170572	chr22:34152994-34152995	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562373388	chr22:34153010-34153011	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548235274	chr22:34153033-34153034	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs493192	chr22:34153047-34153048	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548348308	chr22:34153061-34153062	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186148743	chr22:34153063-34153064	Enhancers Weak transcription Strong transcription Genic 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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34131000-34154200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
5	chr22:34136200-34152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:34136200-34152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:34136400-34152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:34136800-34152600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:34137400-34152600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:34137800-34152800	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:34138000-34152600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:34138000-34152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:34138000-34160800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr22:34140800-34152600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:34141600-34152600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:34141800-34152400	Weak transcription	Fetal Stomach	stomach
17	chr22:34141800-34153200	Weak transcription	Psoas Muscle	Psoas
18	chr22:34142800-34152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:34143400-34160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:34145000-34154000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr22:34145200-34152600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:34146000-34152600	Weak transcription	Right Ventricle	heart
23	chr22:34146400-34152600	Weak transcription	Gastric	stomach
24	chr22:34146400-34152600	Weak transcription	Left Ventricle	heart
25	chr22:34147400-34158400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:34147400-34168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:34147600-34154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:34148800-34152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:34149200-34167000	Weak transcription	Brain Angular Gyrus	brain
30	chr22:34149400-34153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:34149800-34152400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:34150200-34152200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:34150800-34154800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:34150800-34155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:34151000-34155000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:34151400-34155600	Enhancers	Fetal Heart	heart
37	chr22:34151600-34152600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:34151800-34155000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr22:34151800-34159000	Weak transcription	Fetal Intestine Large	intestine
40	chr22:34151800-34167000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:34152000-34152400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:34152000-34153400	Strong transcription	Aorta	Aorta
43	chr22:34152000-34158400	Weak transcription	Fetal Intestine Small	intestine
44	chr22:34152200-34156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:34152400-34154400	Enhancers	Fetal Muscle Leg	muscle
46	chr22:34152400-34154400	Genic enhancers	Fetal Stomach	stomach
47	chr22:34152400-34154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:34152400-34154600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:34152400-34155000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:34152400-34155400	Enhancers	Liver	Liver

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