Variant report

Variant	esv1822681
Chromosome Location	chr1:195136251-195363639
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195180067..195181644-chr1:195189750..195192618,2	K562	blood:
2	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
3	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
4	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
5	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
6	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
7	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
8	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
9	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
10	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
11	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
12	chr1:195311544..195312044-chr17:56756797..56757332,2	Hela-S3	cervix:
13	chr1:195180067..195181644-chr1:195189750..195192618,2	K562	blood:
14	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
15	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
16	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
17	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
18	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
19	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:
20	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
21	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
22	chr1:195236405..195237102-chr2:169335217..169335963,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200997	chromatin interactions

Extended variants
information (count: 1369 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538309268	chr1:195154632-195154633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375739539	chr1:195154635-195154636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144446430	chr1:195154636-195154637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548730062	chr1:195154638-195154639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12075198	chr1:195154649-195154650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182817423	chr1:195154684-195154685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556500091	chr1:195154685-195154686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146603214	chr1:195154756-195154757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538853840	chr1:195154757-195154758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554213106	chr1:195154763-195154764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572477544	chr1:195154767-195154768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542995561	chr1:195154776-195154777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554710240	chr1:195154777-195154778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538644503	chr1:195154799-195154800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188917534	chr1:195154839-195154840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543658703	chr1:195154849-195154850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79009468	chr1:195154880-195154881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140094180	chr1:195154912-195154913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs658239	chr1:195154919-195154920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536566694	chr1:195154926-195154927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560170026	chr1:195154941-195154942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143721145	chr1:195154969-195154970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199959432	chr1:195154982-195154983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192411914	chr1:195154990-195154991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78394423	chr1:195154992-195154993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145743639	chr1:195155063-195155064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550067302	chr1:195155081-195155082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554717385	chr1:195155086-195155087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184413429	chr1:195155114-195155115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538806583	chr1:195155152-195155153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11581720	chr1:195155161-195155162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544029371	chr1:195155168-195155169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536395617	chr1:195155179-195155180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369711390	chr1:195155181-195155182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371891547	chr1:195155182-195155183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575986682	chr1:195155196-195155197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543425825	chr1:195155200-195155201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558359581	chr1:195155206-195155207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558795458	chr1:195155220-195155221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188816075	chr1:195155222-195155223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541597009	chr1:195155226-195155227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191732601	chr1:195155242-195155243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184571588	chr1:195155259-195155260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527377050	chr1:195155272-195155273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576919049	chr1:195155278-195155279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148931566	chr1:195155289-195155290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs656518	chr1:195155293-195155294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189839676	chr1:195155330-195155331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549832644	chr1:195155463-195155464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181030240	chr1:195155485-195155486	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Hypoplastic left heart syndrome	22349727	CNVD
Schizophrenia	21346763	CNVD
Autism	21865298	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Asthma	20841430	CNVD
early-passage human iPS cells	21368824	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Maculopathy	22022419	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195154600-195155800	Enhancers	Fetal Brain Female	brain
2	chr1:195157200-195157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:195157200-195157800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:195157600-195158000	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:195157800-195159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:195159000-195160000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:195163800-195164000	Enhancers	GM12878-XiMat	blood
8	chr1:195164000-195164600	Weak transcription	GM12878-XiMat	blood
9	chr1:195164400-195165000	Active TSS	Primary T cells from cord blood	blood
10	chr1:195164400-195165000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:195164400-195165000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:195164400-195165000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:195164400-195165000	Active TSS	NHDF-Ad	bronchial
14	chr1:195164400-195165200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:195164400-195165200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:195164600-195164800	Enhancers	GM12878-XiMat	blood
17	chr1:195164600-195165000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:195164600-195165000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:195164600-195165000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:195164800-195165000	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:195164800-195165200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:195164800-195165200	Enhancers	Placenta	Placenta
23	chr1:195164800-195165200	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:195164800-195165400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:195165000-195165200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:195165000-195165200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:195165000-195165200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:195165000-195165400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:195165000-195165400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:195165000-195167000	Weak transcription	Primary T cells from cord blood	blood
31	chr1:195165200-195165400	Enhancers	GM12878-XiMat	blood
32	chr1:195165200-195165600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:195165200-195165600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:195165200-195166800	Weak transcription	Placenta	Placenta
35	chr1:195165400-195166400	Weak transcription	GM12878-XiMat	blood
36	chr1:195165400-195166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:195165400-195166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:195165400-195167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:195166400-195166600	Enhancers	GM12878-XiMat	blood
40	chr1:195166400-195167400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:195166600-195167000	Weak transcription	GM12878-XiMat	blood
42	chr1:195166800-195167000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:195166800-195167200	Enhancers	Hela-S3	cervix
44	chr1:195166800-195167400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:195166800-195167400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:195166800-195167400	Enhancers	Placenta	Placenta
47	chr1:195166800-195167600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:195167000-195167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:195167000-195167600	Enhancers	Primary T cells from cord blood	blood
50	chr1:195169600-195169800	Enhancers	Fetal Lung	lung

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