Variant report

Variant	nsv441746
Chromosome Location	chr1:246029062-246037292
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246028187..246030314-chr1:246034757..246036995,2	K562	blood:
2	chr1:246000997..246002904-chr1:246031374..246033364,2	K562	blood:
3	chr1:246036446..246036946-chr3:119813818..119814549,2	Hela-S3	cervix:
4	chr1:246033705..246036760-chr1:246037432..246040238,3	K562	blood:
5	chr1:246029738..246031717-chr1:246033304..246035056,2	K562	blood:
6	chr1:246033349..246034863-chr1:246036560..246039521,2	MCF-7	breast:
7	chr1:246033349..246034863-chr1:246036560..246039521,2	MCF-7	breast:
8	chr1:246029738..246031717-chr1:246033304..246035056,2	K562	blood:
9	chr1:246024420..246026159-chr1:246033527..246035816,2	K562	blood:
10	chr1:246033173..246035050-chr1:246037494..246039763,2	MCF-7	breast:
11	chr1:246035292..246038297-chr1:246038719..246042153,3	MCF-7	breast:
12	chr1:246023716..246025920-chr1:246033122..246035027,2	K562	blood:
13	chr1:246035195..246037363-chr1:246059907..246062133,2	K562	blood:
14	chr1:246026126..246027900-chr1:246029608..246031967,2	K562	blood:
15	chr1:246028187..246030314-chr1:246034757..246036995,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242622	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1890814	chr1:246029064-246029065	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553474797	chr1:246029069-246029070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570243754	chr1:246029091-246029092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1317875	chr1:246029093-246029094	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558923581	chr1:246029106-246029107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529317589	chr1:246029141-246029142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575888375	chr1:246029142-246029143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1317874	chr1:246029186-246029187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544580101	chr1:246029192-246029193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547399578	chr1:246029228-246029229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566097207	chr1:246029249-246029250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2362585	chr1:246029293-246029294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112376994	chr1:246029296-246029297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111401909	chr1:246029297-246029298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376029039	chr1:246029331-246029332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540702262	chr1:246029340-246029341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12750832	chr1:246029368-246029369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532687030	chr1:246029388-246029389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546017731	chr1:246029427-246029428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180888919	chr1:246029443-246029444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531594684	chr1:246029484-246029485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548204049	chr1:246029490-246029491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568021989	chr1:246029558-246029559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2362584	chr1:246029559-246029560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2362583	chr1:246029578-246029579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147587977	chr1:246029581-246029582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555971569	chr1:246029597-246029598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2362582	chr1:246029600-246029601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs66747520	chr1:246029620-246029621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60384104	chr1:246029622-246029623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534744479	chr1:246029631-246029632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187057091	chr1:246029641-246029642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79498071	chr1:246029666-246029667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202218561	chr1:246029667-246029668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200802752	chr1:246029712-246029713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73140710	chr1:246029715-246029716	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142015836	chr1:246029752-246029753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2362581	chr1:246029761-246029762	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540616754	chr1:246029776-246029777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554254761	chr1:246029843-246029844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372319334	chr1:246029891-246029892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375383219	chr1:246029892-246029893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2362580	chr1:246029905-246029906	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190578109	chr1:246029906-246029907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531430225	chr1:246029908-246029909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113274514	chr1:246029921-246029922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182230150	chr1:246029924-246029925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561821957	chr1:246029942-246029943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527624087	chr1:246029944-246029945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546982750	chr1:246029948-246029949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245991000-246045000	Weak transcription	Spleen	Spleen
2	chr1:245999800-246038400	Weak transcription	Aorta	Aorta
3	chr1:246001800-246056800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:246006800-246041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:246009600-246038200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:246012800-246049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:246015400-246038200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:246017800-246036400	Weak transcription	Right Ventricle	heart
9	chr1:246019200-246067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246020200-246036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:246021000-246038200	Weak transcription	Pancreas	Pancrea
12	chr1:246021400-246029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:246022000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:246022000-246038200	Weak transcription	Gastric	stomach
15	chr1:246022000-246042600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:246022200-246037800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:246023000-246038200	Weak transcription	Fetal Kidney	kidney
18	chr1:246023600-246032400	Strong transcription	K562	blood
19	chr1:246023600-246037000	Weak transcription	Lung	lung
20	chr1:246023600-246038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:246023600-246038400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:246024400-246038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:246024600-246033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:246024800-246034800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:246024800-246037400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:246024800-246037800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:246025000-246034800	Weak transcription	Fetal Stomach	stomach
28	chr1:246025000-246036400	Weak transcription	Fetal Brain Male	brain
29	chr1:246025000-246037000	Weak transcription	Left Ventricle	heart
30	chr1:246025200-246033600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:246025200-246036600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:246025400-246033800	Weak transcription	NHDF-Ad	bronchial
33	chr1:246025400-246034600	Weak transcription	Osteobl	bone
34	chr1:246025400-246037800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:246026800-246029800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:246026800-246030600	Weak transcription	Fetal Heart	heart
37	chr1:246027000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:246027200-246037600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:246027200-246041600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:246027400-246036600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:246028000-246034800	Weak transcription	Primary T cells from cord blood	blood
42	chr1:246029600-246038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:246030600-246037400	Enhancers	Fetal Heart	heart
44	chr1:246032400-246033200	Weak transcription	K562	blood
45	chr1:246032600-246033800	Enhancers	Placenta	Placenta
46	chr1:246032800-246033400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:246033000-246033400	Enhancers	Fetal Muscle Leg	muscle
48	chr1:246033000-246033800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:246033200-246037600	Strong transcription	K562	blood
50	chr1:246033400-246035000	Weak transcription	Fetal Muscle Leg	muscle

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