Variant report

Variant	esv3422555
Chromosome Location	chr1:80159643-80191185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:80048884..80051726-chr1:80174478..80177354,2	K562	blood:
2	chr1:80188934..80191207-chr1:80192005..80194869,2	MCF-7	breast:
3	chr1:80180559..80183508-chr1:80186192..80188064,2	K562	blood:
4	chr1:80180559..80183508-chr1:80186192..80188064,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-8	chr1:80162125-80162221	NONHSAT004102
2	lnc-IFI44-8	chr1:80166026-80166380	NONHSAT004102

Extended variants
information (count: 1250 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540411394	chr1:80159650-80159651	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558516471	chr1:80159685-80159686	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117069183	chr1:80159708-80159709	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151035660	chr1:80159750-80159751	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546250947	chr1:80159774-80159775	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80217958	chr1:80159816-80159817	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541495453	chr1:80159842-80159843	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561618929	chr1:80159892-80159893	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528831295	chr1:80159895-80159896	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547277660	chr1:80159917-80159918	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12086398	chr1:80159969-80159970	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532771333	chr1:80159977-80159978	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375396319	chr1:80160009-80160010	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569400499	chr1:80160018-80160019	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536631641	chr1:80160070-80160071	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190527031	chr1:80160083-80160084	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566753622	chr1:80160155-80160156	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572671683	chr1:80160201-80160202	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533798763	chr1:80160212-80160213	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369722998	chr1:80160227-80160228	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562621310	chr1:80160253-80160254	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537670716	chr1:80160276-80160277	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61768586	chr1:80160327-80160328	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56849912	chr1:80160379-80160380	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574234454	chr1:80160396-80160397	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371341654	chr1:80160405-80160406	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139091693	chr1:80160415-80160416	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543992518	chr1:80160437-80160438	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572019392	chr1:80160508-80160509	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143134947	chr1:80160610-80160611	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565601890	chr1:80160666-80160667	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1813054	chr1:80160676-80160677	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193129218	chr1:80160684-80160685	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562959445	chr1:80160685-80160686	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369272918	chr1:80160699-80160700	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530180301	chr1:80160742-80160743	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548665533	chr1:80160864-80160865	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566712105	chr1:80160878-80160879	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145916399	chr1:80160943-80160944	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552025133	chr1:80161019-80161020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138863524	chr1:80161031-80161032	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184409250	chr1:80161035-80161036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555987545	chr1:80161042-80161043	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574579660	chr1:80161086-80161087	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535164070	chr1:80161087-80161088	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561319217	chr1:80161106-80161107	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189336641	chr1:80161108-80161109	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545814541	chr1:80161171-80161172	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149318294	chr1:80161172-80161173	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114005636	chr1:80161173-80161174	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80157600-80161200	Enhancers	Fetal Intestine Large	intestine
2	chr1:80157800-80161200	Enhancers	Fetal Intestine Small	intestine
3	chr1:80158000-80159800	Enhancers	Stomach Mucosa	stomach
4	chr1:80158600-80160000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:80158600-80161200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:80159200-80159800	Enhancers	Fetal Lung	lung
7	chr1:80159200-80160400	Weak transcription	Pancreas	Pancrea
8	chr1:80159200-80160800	Weak transcription	Gastric	stomach
9	chr1:80159600-80159800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:80159600-80161400	Enhancers	Fetal Kidney	kidney
11	chr1:80159600-80161600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:80159800-80160600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:80159800-80160800	Weak transcription	Stomach Mucosa	stomach
14	chr1:80160200-80160800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:80160600-80160800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:80160600-80160800	Enhancers	Pancreas	Pancrea
17	chr1:80160600-80161000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:80160600-80161000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:80160600-80161000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:80160600-80161000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:80160800-80161000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:80160800-80161000	Enhancers	Gastric	stomach
23	chr1:80160800-80161000	Enhancers	Stomach Mucosa	stomach
24	chr1:80161000-80163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:80161000-80164600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:80161200-80164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:80161600-80161800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:80161800-80163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:80163000-80164600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:80163000-80168800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:80164600-80165000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:80164600-80165200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
33	chr1:80164600-80166600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:80165000-80165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:80165200-80168200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:80165800-80166200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:80165800-80166600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:80166200-80168400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:80166600-80168600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:80166600-80182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:80168000-80168400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:80168200-80169000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:80168200-80169000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:80168400-80168800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:80168600-80169000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:80168800-80169200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:80168800-80169600	Enhancers	K562	blood
48	chr1:80169000-80169200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:80169000-80169600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:80169600-80170200	Active TSS	HUES6 Cell Line	embryonic stem cell

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