Variant report

Variant	nsv979609
Chromosome Location	chr22:29404293-29405691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29404563..29408060-chr22:29409696..29411797,4	K562	blood:
2	chr22:29405475..29407089-chr22:29407777..29410693,2	MCF-7	breast:
3	chr22:29401603..29404388-chr22:29410754..29413254,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567968665	chr22:29404295-29404296	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537816157	chr22:29404296-29404297	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371140188	chr22:29404347-29404348	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186600337	chr22:29404367-29404368	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571359976	chr22:29404375-29404376	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374485775	chr22:29404454-29404455	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538793431	chr22:29404510-29404511	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370323595	chr22:29404560-29404561	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553542216	chr22:29404562-29404563	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543837611	chr22:29404571-29404572	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536526547	chr22:29404575-29404576	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560918397	chr22:29404605-29404606	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138314169	chr22:29404646-29404647	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9608719	chr22:29404651-29404652	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546709860	chr22:29404701-29404702	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16986951	chr22:29404706-29404707	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117100081	chr22:29404746-29404747	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143797940	chr22:29404776-29404777	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191978839	chr22:29404781-29404782	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182795103	chr22:29404849-29404850	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569022153	chr22:29404902-29404903	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73882424	chr22:29404956-29404957	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559490128	chr22:29404979-29404980	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16986954	chr22:29405010-29405011	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187210965	chr22:29405045-29405046	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528959993	chr22:29405088-29405089	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531884588	chr22:29405092-29405093	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147433399	chr22:29405097-29405098	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554099667	chr22:29405171-29405172	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148469106	chr22:29405206-29405207	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549004969	chr22:29405254-29405255	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568868332	chr22:29405266-29405267	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59979577	chr22:29405279-29405280	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191920594	chr22:29405286-29405287	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141758765	chr22:29405335-29405336	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75698199	chr22:29405441-29405442	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536386068	chr22:29405473-29405474	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553004732	chr22:29405543-29405544	Weak transcription Genic enhancers Enhancers	n/a	n/a	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29398800-29405000	Weak transcription	HSMMtube	muscle
2	chr22:29400600-29412000	Weak transcription	A549	lung
3	chr22:29400600-29425400	Weak transcription	NHEK	skin
4	chr22:29400800-29405000	Weak transcription	Aorta	Aorta
5	chr22:29401200-29413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:29401400-29405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29401400-29405000	Weak transcription	Ovary	ovary
8	chr22:29401400-29407200	Weak transcription	Right Atrium	heart
9	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
10	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:29401600-29404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:29401600-29405000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:29401600-29407000	Weak transcription	Brain Germinal Matrix	brain
15	chr22:29401600-29407000	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:29401600-29407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29401600-29407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:29401800-29404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:29401800-29404400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:29401800-29406400	Weak transcription	Brain Substantia Nigra	brain
21	chr22:29401800-29406400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:29401800-29407000	Weak transcription	Fetal Lung	lung
23	chr22:29401800-29407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:29401800-29407200	Weak transcription	Liver	Liver
25	chr22:29401800-29407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:29401800-29407200	Weak transcription	Fetal Stomach	stomach
27	chr22:29401800-29407200	Weak transcription	Lung	lung
28	chr22:29401800-29407200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:29401800-29407200	Weak transcription	Right Ventricle	heart
30	chr22:29401800-29408200	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29401800-29408200	Weak transcription	Brain Anterior Caudate	brain
32	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:29402000-29407200	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:29402200-29407200	Weak transcription	Placenta	Placenta
35	chr22:29402600-29407200	Weak transcription	Gastric	stomach
36	chr22:29402600-29412000	Weak transcription	Pancreas	Pancrea
37	chr22:29402800-29411400	Genic enhancers	HepG2	liver
38	chr22:29403000-29407200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr22:29403200-29404400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:29403200-29404400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr22:29403200-29404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:29403200-29404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:29403200-29405000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr22:29403200-29407000	Weak transcription	Fetal Intestine Small	intestine
45	chr22:29403400-29404400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:29403400-29404800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:29403400-29406400	Weak transcription	Fetal Kidney	kidney
48	chr22:29403400-29406600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:29403600-29406600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:29404000-29405400	Enhancers	Left Ventricle	heart

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