Variant report

Variant	nsv519677
Chromosome Location	chr22:34096135-34098417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs240080	chr22:34096135-34096136	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547458022	chr22:34096137-34096138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143626303	chr22:34096138-34096139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537075504	chr22:34096145-34096146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536631904	chr22:34096211-34096212	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147229655	chr22:34096216-34096217	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556921498	chr22:34096220-34096221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560551513	chr22:34096268-34096269	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537683191	chr22:34096290-34096291	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577158957	chr22:34096347-34096348	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557944597	chr22:34096380-34096381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571422338	chr22:34096402-34096403	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117119591	chr22:34096404-34096405	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190346240	chr22:34096482-34096483	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553533470	chr22:34096491-34096492	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs240081	chr22:34096503-34096504	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183019784	chr22:34096576-34096577	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148686432	chr22:34096596-34096597	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188155049	chr22:34096611-34096612	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372566340	chr22:34096618-34096619	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111680449	chr22:34096648-34096649	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76965998	chr22:34096668-34096669	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527843684	chr22:34096683-34096684	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112813341	chr22:34096698-34096699	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541133785	chr22:34096710-34096711	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142822455	chr22:34096724-34096725	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150620427	chr22:34096785-34096786	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530083780	chr22:34096832-34096833	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139673252	chr22:34096834-34096835	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4141438	chr22:34096842-34096843	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143703284	chr22:34096874-34096875	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146802359	chr22:34096881-34096882	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576873691	chr22:34096887-34096888	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571483672	chr22:34096956-34096957	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529667612	chr22:34097007-34097008	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560790459	chr22:34097015-34097016	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375114156	chr22:34097018-34097019	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140687538	chr22:34097019-34097020	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535910014	chr22:34097020-34097021	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556126577	chr22:34097039-34097040	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529771827	chr22:34097122-34097123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372899561	chr22:34097124-34097125	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575919386	chr22:34097125-34097126	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144388697	chr22:34097156-34097157	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558806783	chr22:34097193-34097194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539200913	chr22:34097207-34097208	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572331270	chr22:34097244-34097245	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192384097	chr22:34097245-34097246	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1894444	chr22:34097254-34097255	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561084078	chr22:34097291-34097292	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34071000-34096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:34071800-34096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:34075000-34096800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:34075000-34100400	Weak transcription	Brain Anterior Caudate	brain
5	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
6	chr22:34078400-34096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:34080800-34096600	Weak transcription	Fetal Intestine Small	intestine
8	chr22:34081200-34096200	Weak transcription	Ovary	ovary
9	chr22:34081600-34096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:34081800-34098800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:34082200-34096800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:34082800-34096200	Weak transcription	Fetal Brain Female	brain
13	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:34086800-34096800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:34087000-34096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:34087000-34109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:34087600-34096200	Weak transcription	Right Ventricle	heart
18	chr22:34087800-34096600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:34089600-34096200	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:34089800-34099600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:34090400-34100200	Weak transcription	Aorta	Aorta
22	chr22:34090800-34099400	Weak transcription	Esophagus	oesophagus
23	chr22:34091600-34115800	Weak transcription	Pancreas	Pancrea
24	chr22:34092200-34097600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:34092400-34109200	Weak transcription	Fetal Intestine Large	intestine
26	chr22:34093400-34096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:34093600-34096200	Weak transcription	Left Ventricle	heart
28	chr22:34093600-34097800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:34093800-34097400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:34093800-34098600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:34094000-34096200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:34094000-34097000	Weak transcription	Fetal Heart	heart
33	chr22:34094000-34097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:34094000-34099400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:34094200-34097800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:34094200-34098800	Weak transcription	HepG2	liver
37	chr22:34094400-34102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:34094600-34097200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:34094600-34098200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:34094800-34096200	Weak transcription	Lung	lung
41	chr22:34094800-34097600	Strong transcription	Liver	Liver
42	chr22:34095000-34097200	Strong transcription	Gastric	stomach
43	chr22:34095400-34096400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:34095400-34096400	Weak transcription	Fetal Stomach	stomach
45	chr22:34095400-34098000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr22:34095600-34097200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr22:34095600-34097600	Weak transcription	Spleen	Spleen
48	chr22:34095600-34098000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:34095600-34098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:34095600-34099200	Weak transcription	Fetal Muscle Leg	muscle

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