Variant report

Variant	esv3436353
Chromosome Location	chr22:31621628-31622558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31622250-31622447	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:31621552-31621701	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:31621716-31621840	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31619703..31621726-chr22:31643199..31645730,2	MCF-7	breast:
2	chr22:31619988..31622064-chr22:31622480..31625902,3	K562	blood:
3	chr22:31621605..31623830-chr22:31639235..31640827,2	MCF-7	breast:
4	chr22:31619988..31622064-chr22:31622480..31625902,3	K562	blood:

Variant related genes	Relation type
RNU6-1128P	TF binding region
ENSG00000182541	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75689148	chr22:31621654-31621655	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186240631	chr22:31621683-31621684	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373790447	chr22:31621698-31621699	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368418881	chr22:31621700-31621701	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148900540	chr22:31621713-31621714	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370934889	chr22:31621743-31621744	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143570231	chr22:31621755-31621756	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367645806	chr22:31621758-31621759	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201943592	chr22:31621779-31621780	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs5997917	chr22:31621792-31621793	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs372107972	chr22:31621826-31621827	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200779114	chr22:31621835-31621836	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376034854	chr22:31621843-31621844	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190740128	chr22:31621914-31621915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181922336	chr22:31621961-31621962	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566827951	chr22:31621973-31621974	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535721701	chr22:31621983-31621984	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554161593	chr22:31622028-31622029	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111723981	chr22:31622052-31622053	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574081887	chr22:31622142-31622143	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375495532	chr22:31622164-31622165	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144244697	chr22:31622165-31622166	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544308666	chr22:31622187-31622188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200389293	chr22:31622208-31622209	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574047479	chr22:31622240-31622241	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543134820	chr22:31622248-31622249	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367586313	chr22:31622250-31622251	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs367925335	chr22:31622252-31622253	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372059666	chr22:31622256-31622257	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557016526	chr22:31622258-31622259	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs58569074	chr22:31622270-31622271	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs185759199	chr22:31622290-31622291	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376447566	chr22:31622309-31622310	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs367730762	chr22:31622310-31622311	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs371782256	chr22:31622313-31622314	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs58659647	chr22:31622320-31622321	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs375791619	chr22:31622323-31622324	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370222648	chr22:31622326-31622327	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373112299	chr22:31622327-31622328	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs60997560	chr22:31622334-31622335	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs545989672	chr22:31622347-31622348	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs191712494	chr22:31622353-31622354	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs60347567	chr22:31622367-31622368	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs60757344	chr22:31622371-31622372	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76251436	chr22:31622374-31622375	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs56750122	chr22:31622377-31622378	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs57766868	chr22:31622387-31622388	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs59694765	chr22:31622389-31622390	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs59457861	chr22:31622395-31622396	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs61364275	chr22:31622396-31622397	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
4	chr22:31609400-31625400	Weak transcription	NHLF	lung
5	chr22:31609400-31625400	Weak transcription	Osteobl	bone
6	chr22:31609600-31623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:31609600-31623000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:31609600-31623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:31609600-31624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:31609600-31624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31609600-31625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:31609600-31625400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr22:31609600-31625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:31609600-31627200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:31609800-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:31612400-31622800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:31612600-31621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:31613800-31622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:31614000-31626600	Weak transcription	Fetal Heart	heart
22	chr22:31614400-31625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr22:31614800-31625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:31615000-31625000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31615000-31625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:31615000-31626400	Weak transcription	Fetal Kidney	kidney
27	chr22:31615200-31623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:31615200-31625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:31615200-31625200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:31615200-31625200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr22:31615200-31625200	Weak transcription	Left Ventricle	heart
32	chr22:31615200-31625200	Weak transcription	NHDF-Ad	bronchial
33	chr22:31615200-31625400	Weak transcription	Esophagus	oesophagus
34	chr22:31615200-31626200	Weak transcription	HSMMtube	muscle
35	chr22:31615200-31629000	Weak transcription	NH-A	brain
36	chr22:31615600-31625400	Weak transcription	NHEK	skin
37	chr22:31616200-31625000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:31616200-31625400	Weak transcription	HMEC	breast
39	chr22:31616600-31623200	Weak transcription	A549	lung
40	chr22:31616600-31625400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:31616800-31623200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr22:31617400-31621800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:31617800-31625200	Weak transcription	Brain Germinal Matrix	brain
44	chr22:31618200-31625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:31618200-31625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:31619200-31621800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr22:31619200-31622000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr22:31619200-31622000	Weak transcription	Placenta	Placenta
49	chr22:31619200-31625600	Weak transcription	Ovary	ovary
50	chr22:31619400-31621800	Weak transcription	Fetal Thymus	thymus

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