Variant report

Variant	esv3456076
Chromosome Location	chr22:31045387-31046317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31044001..31046712-chr22:31063629..31065559,2	MCF-7	breast:
2	chr22:31039922..31042444-chr22:31043660..31045429,2	MCF-7	breast:
3	chr22:31044835..31047140-chr22:31050920..31052617,2	K562	blood:
4	chr22:31043628..31045538-chr22:31062741..31064630,2	MCF-7	breast:
5	chr22:31037150..31040336-chr22:31042164..31045603,3	K562	blood:
6	chr22:31042398..31045773-chr22:31056935..31059640,3	K562	blood:

Variant related genes	Relation type
ENSG00000167065	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560587260	chr22:31045458-31045459	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560557598	chr22:31045473-31045474	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574556205	chr22:31045476-31045477	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113468052	chr22:31045486-31045487	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563264249	chr22:31045510-31045511	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149348687	chr22:31045551-31045552	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552124414	chr22:31045569-31045570	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565959406	chr22:31045573-31045574	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534046782	chr22:31045609-31045610	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13433576	chr22:31045645-31045646	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548561143	chr22:31045668-31045669	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568481083	chr22:31045760-31045761	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114194285	chr22:31045773-31045774	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374664275	chr22:31045973-31045974	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557407285	chr22:31046007-31046008	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71328861	chr22:31046042-31046043	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576819021	chr22:31046054-31046055	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577300832	chr22:31046070-31046071	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190663565	chr22:31046077-31046078	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182987934	chr22:31046093-31046094	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538466481	chr22:31046148-31046149	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188378087	chr22:31046150-31046151	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542128962	chr22:31046161-31046162	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576684739	chr22:31046259-31046260	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377487086	chr22:31046300-31046301	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144705952	chr22:31046309-31046310	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1807691	chr22:31046315-31046316	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31032800-31046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
6	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
7	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
8	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
12	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
13	chr22:31034200-31045600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:31037200-31045400	Weak transcription	Lung	lung
17	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:31039800-31045600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:31039800-31046600	Weak transcription	Right Atrium	heart
20	chr22:31040200-31045600	Weak transcription	Left Ventricle	heart
21	chr22:31040200-31046400	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:31040200-31046600	Weak transcription	Psoas Muscle	Psoas
23	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
24	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:31041000-31046400	Weak transcription	Brain Anterior Caudate	brain
26	chr22:31041400-31048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:31042000-31046400	Weak transcription	Brain Substantia Nigra	brain
28	chr22:31042600-31045400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:31043200-31045400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:31043600-31045400	Weak transcription	Spleen	Spleen
31	chr22:31043600-31046400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:31043600-31055400	Weak transcription	Fetal Stomach	stomach
33	chr22:31043800-31046600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:31043800-31051600	Weak transcription	Primary T cells from cord blood	blood
35	chr22:31044000-31046400	Weak transcription	Brain Germinal Matrix	brain
36	chr22:31044000-31046600	Weak transcription	Right Ventricle	heart
37	chr22:31044200-31046600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:31044200-31050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:31044200-31057600	Weak transcription	Ovary	ovary
40	chr22:31044200-31058000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:31044400-31045400	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:31044800-31045400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:31044800-31045400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31044800-31045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:31044800-31046000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr22:31044800-31046000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:31044800-31046200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:31044800-31046800	Enhancers	Stomach Mucosa	stomach
49	chr22:31044800-31047000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:31044800-31047000	Enhancers	Monocytes-CD14+_RO01746	blood

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