Variant report

Variant	esv2758979
Chromosome Location	chr1:174469281-174569776
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	chr1:174566765..174568988-chr1:174739021..174740535,2	K562	blood:
2	chr1:174485495..174487649-chr1:174503565..174506456,2	K562	blood:
3	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:
4	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:
5	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
6	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
7	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
8	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
9	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
10	chr1:174536183..174536703-chr12:77045544..77046044,2	MCF-7	breast:
11	chr1:174485495..174487649-chr1:174503565..174506456,2	K562	blood:
12	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:
13	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
14	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
15	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
16	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
17	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
18	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
19	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
20	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
21	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
22	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
23	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
24	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
25	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
26	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
27	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
28	chr1:174460451..174463330-chr1:174468900..174471148,2	K562	blood:
29	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
30	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:

No data

Extended variants
information (count: 3659 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3659 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141880644	chr1:174469281-174469282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577482151	chr1:174469294-174469295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57247971	chr1:174469303-174469304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545132462	chr1:174469310-174469311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146267224	chr1:174469321-174469322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139346225	chr1:174469363-174469364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181479644	chr1:174469375-174469376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562959082	chr1:174469417-174469418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187074577	chr1:174469424-174469425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115170243	chr1:174469455-174469456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144094074	chr1:174469464-174469465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527971393	chr1:174469467-174469468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371257268	chr1:174469470-174469471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148641267	chr1:174469488-174469489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191158702	chr1:174469540-174469541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568585700	chr1:174469562-174469563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142097992	chr1:174469564-174469565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557514969	chr1:174469633-174469634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111473851	chr1:174469636-174469637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151149482	chr1:174469714-174469715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540133696	chr1:174469730-174469731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554178550	chr1:174469740-174469741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181557899	chr1:174469747-174469748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12075213	chr1:174469748-174469749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562863220	chr1:174469792-174469793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4652500	chr1:174469794-174469795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs545650303	chr1:174469846-174469847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565455481	chr1:174469851-174469852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376826235	chr1:174469852-174469853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140073751	chr1:174469860-174469861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544912780	chr1:174469896-174469897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12071794	chr1:174469905-174469906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs75263863	chr1:174469911-174469912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372535956	chr1:174469938-174469939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16847096	chr1:174469966-174469967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548930602	chr1:174469990-174469991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568646955	chr1:174470000-174470001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540393316	chr1:174470002-174470003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186380360	chr1:174470053-174470054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375509295	chr1:174470061-174470062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370189243	chr1:174470068-174470069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557577825	chr1:174470069-174470070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369428959	chr1:174470088-174470089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75614353	chr1:174470132-174470133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553785468	chr1:174470140-174470141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573850507	chr1:174470156-174470157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542671092	chr1:174470170-174470171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556579700	chr1:174470185-174470186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189659577	chr1:174470254-174470255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576636077	chr1:174470264-174470265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Autism	19404257	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174442200-174491800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174457400-174473600	Weak transcription	Aorta	Aorta
3	chr1:174457600-174475400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:174459400-174470000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:174461200-174474200	Weak transcription	GM12878-XiMat	blood
6	chr1:174461200-174476800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174465800-174470400	Weak transcription	Right Ventricle	heart
8	chr1:174466800-174470400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:174466800-174474200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:174466800-174489800	Weak transcription	Left Ventricle	heart
11	chr1:174467000-174481200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:174469800-174470800	Enhancers	A549	lung
13	chr1:174470400-174470800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:174470400-174470800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:174470400-174470800	Active TSS	Adipose Nuclei	Adipose
16	chr1:174470400-174470800	Enhancers	Liver	Liver
17	chr1:174470400-174470800	Enhancers	Right Ventricle	heart
18	chr1:174474200-174474600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr1:174474600-174480800	Weak transcription	GM12878-XiMat	blood
20	chr1:174475600-174475800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:174476000-174477000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:174476400-174477200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:174476400-174477400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:174476600-174477400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:174476600-174477400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:174476600-174477400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:174476800-174477400	Enhancers	Primary T cells from cord blood	blood
28	chr1:174476800-174477600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:174477000-174477400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:174477400-174481000	Weak transcription	Primary T cells from cord blood	blood
31	chr1:174479000-174479200	Enhancers	Pancreas	Pancrea
32	chr1:174481400-174481600	Enhancers	Fetal Heart	heart
33	chr1:174481600-174483800	Weak transcription	Fetal Heart	heart
34	chr1:174481800-174482000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:174482600-174483600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:174483600-174484200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:174483800-174489800	Enhancers	Fetal Heart	heart
38	chr1:174484200-174484800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:174484800-174485000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:174486600-174488800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:174486800-174493000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:174487800-174488000	Enhancers	Brain Germinal Matrix	brain
43	chr1:174487800-174489600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:174487800-174489800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:174488200-174489200	Weak transcription	Brain Germinal Matrix	brain
46	chr1:174488400-174488600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:174488400-174489400	Enhancers	Fetal Brain Male	brain
48	chr1:174488600-174488800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:174488600-174489400	Enhancers	Brain Hippocampus Middle	brain
50	chr1:174488600-174489600	Enhancers	Brain Angular Gyrus	brain

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