Variant report

Variant	esv1826904
Chromosome Location	chr1:196291977-196371432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
2	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
3	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:
4	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
5	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
6	chr1:196360024..196360898-chr9:82652545..82653460,2	MCF-7	breast:
7	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
8	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
9	chr1:196286838..196288124-chr1:196341989..196342693,3	MCF-7	breast:
10	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
11	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
12	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:
13	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
14	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
15	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
16	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
17	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
18	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
19	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:
20	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
21	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:
22	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
23	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
24	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
25	chr1:196324467..196324970-chr1:196629741..196630381,2	MCF-7	breast:
26	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:
27	chr1:196366632..196369217-chr1:212900913..212902488,2	K562	blood:
28	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
29	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
30	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:

No data

Extended variants
information (count: 2965 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2965 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12407399	chr1:196291977-196291978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532233242	chr1:196292005-196292006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140864855	chr1:196292048-196292049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372176298	chr1:196292053-196292054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184338775	chr1:196292073-196292074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551680842	chr1:196292099-196292100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529785253	chr1:196292121-196292122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12082579	chr1:196292176-196292177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527382312	chr1:196292187-196292188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569739959	chr1:196292321-196292322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187127652	chr1:196292335-196292336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552760604	chr1:196292352-196292353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548979456	chr1:196292373-196292374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138116258	chr1:196292404-196292405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561995618	chr1:196292409-196292410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149136990	chr1:196292442-196292443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568429195	chr1:196292443-196292444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535449374	chr1:196292450-196292451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557058337	chr1:196292454-196292455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566894273	chr1:196292457-196292458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192463254	chr1:196292466-196292467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556049595	chr1:196292468-196292469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145021967	chr1:196292470-196292471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558321919	chr1:196292485-196292486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577112131	chr1:196292562-196292563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184362973	chr1:196292570-196292571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529500217	chr1:196292578-196292579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537753286	chr1:196292606-196292607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574394913	chr1:196292638-196292639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73065828	chr1:196292659-196292660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147556411	chr1:196292677-196292678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189056711	chr1:196292721-196292722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530610064	chr1:196292787-196292788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182447554	chr1:196292858-196292859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571198193	chr1:196292862-196292863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184553189	chr1:196292894-196292895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188938892	chr1:196292896-196292897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528814987	chr1:196292942-196292943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80111483	chr1:196292977-196292978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547290079	chr1:196293007-196293008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568633645	chr1:196293012-196293013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181542152	chr1:196293086-196293087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202104374	chr1:196293095-196293096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386491626	chr1:196293143-196293144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569051353	chr1:196293149-196293150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553663049	chr1:196293173-196293174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113595872	chr1:196293189-196293190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558359049	chr1:196293213-196293214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576981505	chr1:196293224-196293225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534489409	chr1:196293239-196293240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196256600-196302800	Weak transcription	Ovary	ovary
2	chr1:196266200-196309600	Weak transcription	Fetal Kidney	kidney
3	chr1:196268800-196304400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:196273000-196313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:196275800-196313000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:196276000-196305000	Weak transcription	Fetal Lung	lung
7	chr1:196279400-196314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:196282600-196298600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:196285200-196295200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:196285200-196295800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:196285200-196296000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:196285200-196299800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:196285200-196302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:196285200-196303800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:196287000-196296400	Weak transcription	Liver	Liver
16	chr1:196290400-196293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:196290800-196293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:196291000-196292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:196292800-196293200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:196293000-196293800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:196293200-196293600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:196293200-196297200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:196293400-196293800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:196293600-196302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:196293800-196297400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:196295200-196296200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:196295800-196297200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:196296000-196296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:196296200-196299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:196296400-196296800	Strong transcription	Liver	Liver
31	chr1:196296800-196300800	Weak transcription	Liver	Liver
32	chr1:196296800-196301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:196297200-196297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:196297200-196300200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:196297400-196297800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:196297400-196298600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:196297600-196298000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:196297800-196298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:196298000-196313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:196298600-196298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:196298600-196302400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:196298800-196311200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:196299600-196300200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:196299600-196304200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:196299800-196300400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:196300200-196304200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:196300200-196313600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:196300400-196304000	Weak transcription	Fetal Brain Female	brain
49	chr1:196300400-196308200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:196300800-196303200	Strong transcription	Liver	Liver

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