Variant report

Variant	esv2430109
Chromosome Location	chr1:169897656-169899010
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169897753..169898707-chr1:170850760..170851657,6	MCF-7	breast:
2	chr1:169819515..169822344-chr1:169896401..169898488,2	MCF-7	breast:
3	chr1:169887846..169894353-chr1:169898169..169903456,7	K562	blood:
4	chr1:169897805..169898496-chr1:170898617..170899529,4	MCF-7	breast:
5	chr1:169898316..169900651-chr1:169903000..169904751,2	K562	blood:
6	chr1:169896264..169898992-chr1:170499654..170502527,2	MCF-7	breast:
7	chr1:169897755..169898590-chr1:170734743..170735498,2	MCF-7	breast:
8	chr1:169897891..169898773-chr1:170898615..170899541,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120370	chromatin interactions
ENSG00000231407	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 93 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12141609	chr1:169897671-169897672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117635723	chr1:169897760-169897761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539974292	chr1:169897792-169897793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs490000	chr1:169897832-169897833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
5	rs371125724	chr1:169897840-169897841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs59281230	chr1:169897858-169897859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10690029	chr1:169897862-169897863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528927898	chr1:169897880-169897881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544211820	chr1:169897881-169897882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534527823	chr1:169897949-169897950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562298564	chr1:169897950-169897951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs676020	chr1:169897984-169897985	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570594594	chr1:169898014-169898015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560700843	chr1:169898036-169898037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533374640	chr1:169898044-169898045	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539583315	chr1:169898051-169898052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2145046	chr1:169898095-169898096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs192522317	chr1:169898110-169898111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140300632	chr1:169898122-169898123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184445485	chr1:169898123-169898124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550154374	chr1:169898156-169898157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189730084	chr1:169898180-169898181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145204707	chr1:169898203-169898204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570545157	chr1:169898262-169898263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557754388	chr1:169898279-169898280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147977068	chr1:169898322-169898323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533761375	chr1:169898337-169898338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542116438	chr1:169898343-169898344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555108690	chr1:169898360-169898361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371404234	chr1:169898365-169898366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs114322664	chr1:169898432-169898433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562543973	chr1:169898485-169898486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141643756	chr1:169898503-169898504	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556040065	chr1:169898521-169898522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545710149	chr1:169898536-169898537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12724136	chr1:169898564-169898565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374631273	chr1:169898565-169898566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs61806079	chr1:169898587-169898588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560786890	chr1:169898673-169898674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs3790393	chr1:169898686-169898687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370798855	chr1:169898699-169898700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572649041	chr1:169898722-169898723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561423419	chr1:169898797-169898798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531883613	chr1:169898814-169898815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375844210	chr1:169898833-169898834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549999516	chr1:169898842-169898843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181217715	chr1:169898868-169898869	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538636200	chr1:169898872-169898873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547360541	chr1:169898883-169898884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566445555	chr1:169898962-169898963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	21080181	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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
2	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:169884200-169913000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:169884600-169900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:169884600-169900600	Weak transcription	NHDF-Ad	bronchial
7	chr1:169885200-169900800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169885400-169913200	Weak transcription	Ovary	ovary
9	chr1:169885600-169903200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:169885800-169898000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:169886400-169913000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:169886600-169915600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:169887000-169911400	Weak transcription	Left Ventricle	heart
14	chr1:169888800-169900600	Weak transcription	Fetal Stomach	stomach
15	chr1:169889600-169900600	Weak transcription	Fetal Lung	lung
16	chr1:169889800-169898000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:169890800-169906200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:169891000-169898200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:169891000-169911400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:169891000-169913200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:169894200-169903400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:169895600-169898000	Weak transcription	GM12878-XiMat	blood
23	chr1:169895600-169900600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:169895600-169901000	Weak transcription	Fetal Heart	heart
25	chr1:169896400-169898000	Weak transcription	Dnd41	blood
26	chr1:169898000-169898200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:169898000-169898200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:169898000-169898200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:169898000-169898200	Enhancers	Dnd41	blood
30	chr1:169898000-169898200	Enhancers	GM12878-XiMat	blood
31	chr1:169898000-169898400	Enhancers	Fetal Kidney	kidney
32	chr1:169898200-169899000	Weak transcription	GM12878-XiMat	blood
33	chr1:169898200-169899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:169898400-169900800	Weak transcription	Fetal Kidney	kidney

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