Variant report

Variant	esv2452061
Chromosome Location	chr1:91968506-91969970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:91879633..91881170-chr1:91966893..91969122,2	K562	blood:
2	chr1:91869685..91873685-chr1:91965673..91969192,5	K562	blood:
3	chr1:91965033..91967029-chr1:91968588..91971259,3	MCF-7	breast:
4	chr1:91966732..91969554-chr1:91971493..91974418,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162669	chromatin interactions
ENSG00000097046	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182039021	chr1:91968567-91968568	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573079067	chr1:91968611-91968612	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541105604	chr1:91968654-91968655	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13447466	chr1:91968692-91968693	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145175566	chr1:91968741-91968742	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566428333	chr1:91968748-91968749	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs983945	chr1:91968762-91968763	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13447467	chr1:91968810-91968811	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397843986	chr1:91968811-91968812	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533563378	chr1:91968816-91968817	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555603399	chr1:91968859-91968860	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13447468	chr1:91968875-91968876	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546753640	chr1:91968880-91968881	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372946397	chr1:91968881-91968882	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149177307	chr1:91968892-91968893	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538167686	chr1:91968907-91968908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555924010	chr1:91968951-91968952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577455498	chr1:91969015-91969016	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545887394	chr1:91969040-91969041	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144711694	chr1:91969059-91969060	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573148469	chr1:91969095-91969096	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201973119	chr1:91969108-91969109	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147932439	chr1:91969150-91969151	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562143257	chr1:91969185-91969186	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186421872	chr1:91969205-91969206	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529546382	chr1:91969281-91969282	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551413862	chr1:91969433-91969434	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13447469	chr1:91969453-91969454	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377602675	chr1:91969491-91969492	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13447470	chr1:91969509-91969510	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189848265	chr1:91969519-91969520	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551457258	chr1:91969613-91969614	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75423343	chr1:91969676-91969677	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565243141	chr1:91969712-91969713	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs492410	chr1:91969724-91969725	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527251597	chr1:91969802-91969803	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548678647	chr1:91969803-91969804	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182116856	chr1:91969810-91969811	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs403933	chr1:91969813-91969814	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567316188	chr1:91969814-91969815	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147119320	chr1:91969815-91969816	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148157338	chr1:91969823-91969824	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185754705	chr1:91969864-91969865	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13447471	chr1:91969881-91969882	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201050915	chr1:91969886-91969887	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573237612	chr1:91969927-91969928	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550512801	chr1:91969936-91969937	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91966200-91968600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:91967000-91968600	Flanking Active TSS	HUVEC	blood vessel
3	chr1:91967200-91972000	Weak transcription	Spleen	Spleen
4	chr1:91967200-91980800	Weak transcription	Gastric	stomach
5	chr1:91967200-91989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:91967400-91968600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:91967400-91968600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:91967400-91968600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:91967400-91968600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:91967400-91968600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:91967400-91969000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:91967400-91970600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:91967400-91977600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:91967400-91978200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:91967400-91984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:91967400-91989000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:91967600-91968600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:91967600-91968600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:91967600-91968600	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:91967600-91968600	Flanking Active TSS	Fetal Heart	heart
21	chr1:91967600-91968600	Flanking Active TSS	Hela-S3	cervix
22	chr1:91967600-91968600	Flanking Active TSS	NHLF	lung
23	chr1:91967600-91968800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:91967600-91968800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:91967600-91968800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:91967600-91968800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:91967600-91968800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr1:91967600-91969000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:91967600-91969200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:91967600-91969200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:91967600-91970400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:91967600-91971400	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr1:91967600-91971800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:91967600-91980400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:91967600-91990600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:91967800-91968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:91967800-91968600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:91967800-91968600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:91967800-91968600	Enhancers	HepG2	liver
40	chr1:91967800-91968600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:91967800-91968800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:91967800-91976000	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:91967800-91979200	Weak transcription	Primary B cells from cord blood	blood
44	chr1:91967800-91982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:91967800-91983000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
47	chr1:91968000-91968600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:91968000-91968600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:91968000-91968600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:91968000-91968600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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