Variant report

Variant	esv20088
Chromosome Location	chr1:246739604-246741677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246738601..246740180-chr1:246754340..246756772,2	MCF-7	breast:
2	chr1:246668048..246670638-chr1:246738189..246740927,2	K562	blood:
3	chr1:226185428..226188059-chr1:246740463..246742577,2	K562	blood:
4	chr1:246729017..246731987-chr1:246738180..246742192,5	MCF-7	breast:
5	chr1:246739822..246741667-chr1:246766063..246767788,2	K562	blood:

Variant related genes	Relation type
ENSG00000162851	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000162852	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148642525	chr1:246739640-246739641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs575904003	chr1:246739652-246739653	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs142131599	chr1:246739700-246739701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555224467	chr1:246739724-246739725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs575119262	chr1:246739727-246739728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151163545	chr1:246739737-246739738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140437822	chr1:246739748-246739749	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200285671	chr1:246739750-246739751	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201222432	chr1:246739752-246739753	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199597946	chr1:246739753-246739754	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181376325	chr1:246739782-246739783	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186968403	chr1:246739838-246739839	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs543842890	chr1:246739862-246739863	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs555467957	chr1:246739873-246739874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs191360490	chr1:246739900-246739901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183115716	chr1:246739903-246739904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs546185864	chr1:246739912-246739913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562591527	chr1:246739937-246739938	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531653705	chr1:246739954-246739955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs547944872	chr1:246739955-246739956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567900840	chr1:246739957-246739958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs10924782	chr1:246739979-246739980	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547089762	chr1:246739984-246739985	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs140140050	chr1:246739988-246739989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs145228133	chr1:246739998-246739999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs188345256	chr1:246740037-246740038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12123497	chr1:246740054-246740055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569421795	chr1:246740076-246740077	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146519230	chr1:246740105-246740106	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555328624	chr1:246740152-246740153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575082702	chr1:246740183-246740184	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs141063484	chr1:246740231-246740232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs189709232	chr1:246740277-246740278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577268484	chr1:246740288-246740289	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs116952998	chr1:246740292-246740293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs182328475	chr1:246740295-246740296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs187684195	chr1:246740308-246740309	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541701824	chr1:246740322-246740323	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs144798086	chr1:246740345-246740346	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs554409570	chr1:246740347-246740348	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs138610028	chr1:246740373-246740374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs149292521	chr1:246740416-246740417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs530233649	chr1:246740422-246740423	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs143315367	chr1:246740450-246740451	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs548443477	chr1:246740452-246740453	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549477971	chr1:246740495-246740496	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs569610576	chr1:246740522-246740523	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs535489164	chr1:246740538-246740539	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs111662443	chr1:246740547-246740548	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs143009232	chr1:246740555-246740556	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246730800-246744000	Weak transcription	Ovary	ovary
2	chr1:246731000-246742000	Weak transcription	Fetal Stomach	stomach
3	chr1:246731000-246747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:246731400-246740600	Weak transcription	HSMMtube	muscle
5	chr1:246731400-246742000	Weak transcription	NH-A	brain
6	chr1:246731400-246746000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:246731400-246746200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:246731400-246747200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:246731400-246753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:246731600-246741600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:246731600-246747000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:246732000-246746400	Weak transcription	Hela-S3	cervix
13	chr1:246732000-246747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:246733200-246740600	Weak transcription	Liver	Liver
15	chr1:246733200-246740800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:246733200-246741000	Weak transcription	NHLF	lung
17	chr1:246733200-246741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:246733200-246745600	Weak transcription	Pancreas	Pancrea
19	chr1:246733200-246746000	Weak transcription	Lung	lung
20	chr1:246733200-246747000	Weak transcription	NHEK	skin
21	chr1:246733400-246741000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:246733400-246746800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:246733600-246740000	Weak transcription	Right Ventricle	heart
24	chr1:246733600-246740600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:246733600-246742000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:246733600-246744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:246733600-246745400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:246733600-246746800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:246733800-246740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:246733800-246742200	Weak transcription	Fetal Kidney	kidney
31	chr1:246733800-246742400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:246733800-246742400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:246733800-246745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:246733800-246746200	Weak transcription	Dnd41	blood
35	chr1:246734000-246740200	Weak transcription	Small Intestine	intestine
36	chr1:246734000-246745600	Weak transcription	Colonic Mucosa	Colon
37	chr1:246734200-246742600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:246734600-246741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:246735200-246740600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:246735200-246740800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:246735200-246741600	Weak transcription	Left Ventricle	heart
42	chr1:246735200-246742600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:246735200-246743000	Weak transcription	HUVEC	blood vessel
44	chr1:246735200-246743200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:246735400-246740600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:246735600-246742000	Weak transcription	Right Atrium	heart
47	chr1:246735600-246747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:246735600-246754800	Weak transcription	Spleen	Spleen
49	chr1:246736200-246740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:246736200-246741600	Weak transcription	Psoas Muscle	Psoas

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