Variant report

Variant	esv1800458
Chromosome Location	chr1:171667663-171701129
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:28)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171665381..171668263-chr1:171669803..171671698,2	K562	blood:
2	chr1:171621375..171623706-chr1:171697958..171699845,2	K562	blood:
3	chr1:171642979..171645264-chr1:171671539..171674041,2	MCF-7	breast:
4	chr1:171696496..171698360-chr1:171698518..171700824,2	K562	blood:
5	chr1:171683036..171685816-chr1:171686230..171688004,2	MCF-7	breast:
6	chr1:171665381..171668263-chr1:171669803..171671698,2	K562	blood:
7	chr1:171696496..171698360-chr1:171698518..171700824,2	K562	blood:
8	chr1:171700759..171702561-chr1:171709552..171711589,2	K562	blood:
9	chr1:171624257..171625200-chr1:171684733..171685343,5	MCF-7	breast:
10	chr1:171613978..171614654-chr1:171684466..171685390,3	MCF-7	breast:
11	chr1:171687308..171689359-chr1:171700947..171702726,2	K562	blood:
12	chr1:171696598..171698479-chr1:171750402..171753396,2	K562	blood:
13	chr1:171683036..171685816-chr1:171686230..171688004,2	MCF-7	breast:
14	chr1:171667939..171671943-chr1:171675100..171678672,3	K562	blood:
15	chr1:171624474..171625267-chr1:171684716..171685707,4	MCF-7	breast:
16	chr1:171611915..171613655-chr1:171683755..171685490,3	MCF-7	breast:
17	chr1:171667939..171671943-chr1:171675100..171678672,3	K562	blood:
18	chr1:171687308..171689359-chr1:171700947..171702726,2	K562	blood:
19	chr1:171682877..171685651-chr1:171749605..171752042,3	K562	blood:
20	chr1:171700285..171702286-chr1:171705548..171707475,2	K562	blood:
21	chr1:171686305..171689252-chr1:171710111..171712104,2	K562	blood:
22	chr1:171673211..171675541-chr1:171709972..171711571,2	K562	blood:
23	chr1:171696346..171698512-chr1:171703920..171706655,2	K562	blood:
24	chr1:171624400..171625332-chr1:171684735..171685281,3	K562	blood:
25	chr1:171613874..171614671-chr1:171684707..171685402,3	MCF-7	breast:
26	chr1:171613767..171614432-chr1:171685019..171685719,2	K562	blood:
27	chr1:171688591..171690829-chr1:171750359..171752886,2	MCF-7	breast:
28	chr1:171699126..171703650-chr1:171709552..171712339,6	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAMP4-4	chr1:171677681-171677774	l_147_chr1:171653920-171677715_76bGuttman_hLF
2	lnc-VAMP4-4	chr1:171696140-171697124	NONHSAT007576
3	lnc-VAMP4-4	chr1:171676225-171676512	NONHSAT007577
4	lnc-VAMP4-4	chr1:171677681-171677859	NONHSAT007577
5	lnc-VAMP4-4	chr1:171676378-171676512	l_147_chr1:171653920-171677715_76bGuttman_hLF
6	lnc-VAMP4-4	chr1:171698086-171698115	l_147_chr1:171653920-171677715_76bGuttman_hLF

No data

Variant related genes	Relation type
ENSG00000117533	chromatin interactions
ENSG00000010165	chromatin interactions
ENSG00000034971	chromatin interactions

Extended variants
information (count: 1158 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35919490	chr1:171667663-171667664	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs551660556	chr1:171667668-171667669	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533570362	chr1:171667670-171667671	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74523403	chr1:171667699-171667700	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554691659	chr1:171667715-171667716	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576204880	chr1:171667740-171667741	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs36031936	chr1:171667802-171667803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143617573	chr1:171667814-171667815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549639350	chr1:171667825-171667826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527275793	chr1:171667833-171667834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558574153	chr1:171667851-171667852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576877138	chr1:171667852-171667853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7516868	chr1:171667887-171667888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7533155	chr1:171667894-171667895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541318656	chr1:171667901-171667902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7525905	chr1:171667915-171667916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7530347	chr1:171667918-171667919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200682386	chr1:171667927-171667928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61544622	chr1:171667954-171667955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559343182	chr1:171667972-171667973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6679354	chr1:171668002-171668003	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs186479113	chr1:171668014-171668015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373004801	chr1:171668015-171668016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140851710	chr1:171668016-171668017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144671971	chr1:171668027-171668028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114118403	chr1:171668040-171668041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564960587	chr1:171668048-171668049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12064421	chr1:171668059-171668060	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183598031	chr1:171668062-171668063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76138452	chr1:171668066-171668067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114837928	chr1:171668078-171668079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535167760	chr1:171668084-171668085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530367906	chr1:171668131-171668132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115728053	chr1:171668142-171668143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186124298	chr1:171668166-171668167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34506415	chr1:171668202-171668203	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537161282	chr1:171668241-171668242	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138555420	chr1:171668264-171668265	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576742867	chr1:171668270-171668271	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141649423	chr1:171668289-171668290	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201904153	chr1:171668318-171668319	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373605826	chr1:171668322-171668323	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146173097	chr1:171668329-171668330	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554964893	chr1:171668353-171668354	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114319361	chr1:171668354-171668355	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542041681	chr1:171668376-171668377	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146182995	chr1:171668395-171668396	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs61051720	chr1:171668398-171668399	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113773879	chr1:171668437-171668438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575068953	chr1:171668469-171668470	Weak transcription Enhancers Strong transcription	n/a	n/a	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
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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171664000-171668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:171664400-171685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:171664600-171674400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:171664800-171668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:171664800-171684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:171665000-171669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:171665000-171692000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:171665400-171674600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:171666000-171668200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:171666000-171668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:171666000-171668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:171666000-171669000	Strong transcription	Aorta	Aorta
15	chr1:171666000-171674200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:171666000-171676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:171666000-171676600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:171666000-171685000	Weak transcription	Brain Germinal Matrix	brain
19	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
20	chr1:171666200-171670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:171666200-171676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:171666200-171682600	Weak transcription	Lung	lung
23	chr1:171666200-171684600	Weak transcription	Fetal Stomach	stomach
24	chr1:171666200-171684800	Weak transcription	Thymus	Thymus
25	chr1:171666400-171668200	Weak transcription	Adipose Nuclei	Adipose
26	chr1:171666400-171673000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:171666600-171668200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:171666600-171668400	Weak transcription	NHDF-Ad	bronchial
29	chr1:171666600-171676600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:171666600-171684800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:171666600-171686200	Weak transcription	Gastric	stomach
32	chr1:171666800-171668400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:171666800-171668400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:171666800-171668400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:171666800-171668600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:171666800-171669800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:171666800-171670000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:171666800-171671800	Weak transcription	Liver	Liver
39	chr1:171666800-171673600	Weak transcription	HSMM	muscle
40	chr1:171666800-171674200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:171666800-171674200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:171666800-171675600	Weak transcription	Colonic Mucosa	Colon
43	chr1:171666800-171679200	Weak transcription	NH-A	brain
44	chr1:171666800-171686800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:171666800-171692000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:171666800-171692000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:171666800-171692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:171667000-171669600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:171667000-171670400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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