Variant report

Variant	esv3446258
Chromosome Location	chr10:50015246-50019644
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50019507..50021681-chr10:50026930..50029178,2	K562	blood:
2	chr10:50009310..50017840-chr10:50018505..50026491,17	MCF-7	breast:
3	chr10:49972674..49975169-chr10:50017821..50020027,2	MCF-7	breast:
4	chr10:50018526..50021577-chr10:50026027..50031410,4	MCF-7	breast:
5	chr10:50013766..50016503-chr10:50352628..50354357,2	MCF-7	breast:
6	chr10:50011096..50015039-chr10:50015649..50020097,7	MCF-7	breast:
7	chr10:50010501..50012813-chr10:50013892..50016790,2	K562	blood:
8	chr10:50016415..50019036-chr10:50020234..50023570,4	MCF-7	breast:
9	chr10:50011301..50013130-chr10:50016318..50018256,2	MCF-7	breast:
10	chr10:50012510..50015290-chr10:50020965..50023375,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK8-7	chr10:50019304-50019418	ucscGeneNc_uc001jhi_1

No data

Variant related genes	Relation type
ENSG00000128815	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570768250	chr10:50015256-50015257	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538305137	chr10:50015267-50015268	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556720395	chr10:50015274-50015275	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368553701	chr10:50015291-50015292	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34318420	chr10:50015305-50015306	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568243327	chr10:50015318-50015319	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59793264	chr10:50015319-50015320	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115312103	chr10:50015329-50015330	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572322949	chr10:50015347-50015348	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371659035	chr10:50015350-50015351	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138673316	chr10:50015423-50015424	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371855162	chr10:50015465-50015466	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557701183	chr10:50015492-50015493	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79150808	chr10:50015497-50015498	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543483893	chr10:50015531-50015532	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561482146	chr10:50015537-50015538	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77064597	chr10:50015581-50015582	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114241080	chr10:50015593-50015594	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182129519	chr10:50015599-50015600	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527947505	chr10:50015606-50015607	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186857091	chr10:50015608-50015609	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148890515	chr10:50015615-50015616	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531642152	chr10:50015687-50015688	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112723817	chr10:50015723-50015724	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143555259	chr10:50015750-50015751	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116259321	chr10:50015755-50015756	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs193046772	chr10:50015818-50015819	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553968917	chr10:50015829-50015830	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77052935	chr10:50015842-50015843	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114669687	chr10:50015901-50015902	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372086924	chr10:50015910-50015911	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111673272	chr10:50015928-50015929	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376556300	chr10:50015955-50015956	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536690006	chr10:50015965-50015966	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35450901	chr10:50015984-50015985	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201180478	chr10:50015993-50015994	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555042017	chr10:50016001-50016002	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538398477	chr10:50016048-50016049	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573354413	chr10:50016083-50016084	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77654435	chr10:50016113-50016114	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560281319	chr10:50016120-50016121	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572575125	chr10:50016140-50016141	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546459298	chr10:50016146-50016147	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564480055	chr10:50016160-50016161	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185599180	chr10:50016165-50016166	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4332442	chr10:50016187-50016188	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531725318	chr10:50016198-50016199	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148719343	chr10:50016211-50016212	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190533721	chr10:50016326-50016327	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533572605	chr10:50016338-50016339	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:50010800-50016000	Enhancers	Fetal Thymus	thymus
5	chr10:50011200-50015400	Enhancers	Fetal Muscle Leg	muscle
6	chr10:50011200-50016600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
7	chr10:50011400-50016200	Genic enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:50011600-50016200	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:50011600-50017000	Enhancers	Fetal Stomach	stomach
10	chr10:50012800-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:50012800-50016800	Enhancers	NHEK	skin
12	chr10:50013000-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:50013200-50023800	Strong transcription	GM12878-XiMat	blood
14	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:50014200-50016600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr10:50014200-50017200	Weak transcription	Pancreas	Pancrea
18	chr10:50014200-50017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:50014200-50030000	Weak transcription	Right Atrium	heart
20	chr10:50014400-50016000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:50014600-50015800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:50014600-50016800	Enhancers	Primary T cells from cord blood	blood
23	chr10:50014600-50017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:50014600-50017600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:50014600-50019400	Weak transcription	Brain Substantia Nigra	brain
26	chr10:50014600-50019800	Weak transcription	Left Ventricle	heart
27	chr10:50014600-50020800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr10:50014600-50021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:50014800-50016000	Weak transcription	Brain Germinal Matrix	brain
30	chr10:50014800-50016000	Weak transcription	Fetal Lung	lung
31	chr10:50014800-50016200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:50014800-50016600	Weak transcription	Spleen	Spleen
33	chr10:50014800-50017200	Weak transcription	Lung	lung
34	chr10:50014800-50017400	Weak transcription	Brain Angular Gyrus	brain
35	chr10:50014800-50018600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:50014800-50019600	Weak transcription	NHLF	lung
37	chr10:50014800-50020600	Weak transcription	Adipose Nuclei	Adipose
38	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:50015000-50018400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:50015000-50023000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
43	chr10:50015400-50016400	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:50015600-50023200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:50015600-50029800	Weak transcription	Gastric	stomach
46	chr10:50015800-50016200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:50016000-50016200	Enhancers	Brain Germinal Matrix	brain
48	chr10:50016000-50016200	Weak transcription	Fetal Thymus	thymus
49	chr10:50016000-50016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:50016000-50017400	Enhancers	Fetal Lung	lung

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