Variant report

Variant	esv3359938
Chromosome Location	chr22:31018577-31021325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31009106..31011344-chr22:31017330..31018949,2	K562	blood:

Extended variants
information (count: 241 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560354454	chr22:31018587-31018588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535207781	chr22:31018595-31018596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72558373	chr22:31018597-31018598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191575583	chr22:31018601-31018602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542787583	chr22:31018605-31018606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536950984	chr22:31018610-31018611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5749138	chr22:31018614-31018615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72558387	chr22:31018616-31018617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140172709	chr22:31018622-31018623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370681092	chr22:31018642-31018643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2301955	chr22:31018646-31018647	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs567140862	chr22:31018659-31018660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72558389	chr22:31018687-31018688	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189160940	chr22:31018737-31018738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536077333	chr22:31018743-31018744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532740835	chr22:31018751-31018752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150065499	chr22:31018769-31018770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2301956	chr22:31018777-31018778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535526908	chr22:31018779-31018780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555219108	chr22:31018782-31018783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568986851	chr22:31018812-31018813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2301957	chr22:31018817-31018818	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558049760	chr22:31018841-31018842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578014880	chr22:31018866-31018867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2301958	chr22:31018884-31018885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554118926	chr22:31018891-31018892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573988294	chr22:31018911-31018912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192876812	chr22:31018914-31018915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368408985	chr22:31018918-31018919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371674498	chr22:31018930-31018931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375069878	chr22:31018944-31018945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376062683	chr22:31018949-31018950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369589347	chr22:31018958-31018959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11557601	chr22:31018972-31018973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1131603	chr22:31018975-31018976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576197525	chr22:31018978-31018979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373056071	chr22:31018985-31018986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144166182	chr22:31018998-31018999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375436976	chr22:31019001-31019002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147747593	chr22:31019012-31019013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369722707	chr22:31019015-31019016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367605153	chr22:31019016-31019017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142590268	chr22:31019039-31019040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4820889	chr22:31019044-31019045	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527966482	chr22:31019046-31019047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185152697	chr22:31019094-31019095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544141211	chr22:31019101-31019102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190087868	chr22:31019109-31019110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191501209	chr22:31019116-31019117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28533163	chr22:31019148-31019149	Weak transcription Strong transcription	n/a	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31004400-31020200	Weak transcription	Fetal Kidney	kidney
4	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:31006000-31019200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr22:31006000-31020800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
12	chr22:31006200-31019400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
18	chr22:31006600-31020000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
21	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
22	chr22:31007200-31019200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
26	chr22:31008800-31019000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:31010200-31022400	Weak transcription	HUVEC	blood vessel
28	chr22:31011200-31019600	Strong transcription	Fetal Muscle Leg	muscle
29	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:31011800-31019200	Strong transcription	Spleen	Spleen
32	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
34	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
36	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31013000-31023200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
39	chr22:31013800-31018600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:31013800-31022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:31013800-31022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
44	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr22:31014000-31030800	Weak transcription	Gastric	stomach
46	chr22:31014000-31030800	Weak transcription	Ovary	ovary
47	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31015200-31020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung

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