Variant report

Variant	nsv982911
Chromosome Location	chr10:18911989-18931479
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:0)
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	chr10:18921869..18924781-chr10:18927596..18930415,2	K562	blood:
2	chr10:18929573..18932544-chr10:18939226..18941814,2	MCF-7	breast:
3	chr10:18927647..18933802-chr10:18937639..18941916,7	K562	blood:
4	chr10:18928489..18931214-chr10:18946847..18949825,2	MCF-7	breast:
5	chr10:18923629..18926308-chr10:18938748..18941375,3	MCF-7	breast:
6	chr10:18910399..18912492-chr10:18914485..18916630,2	MCF-7	breast:
7	chr10:18907737..18909748-chr10:18914983..18916871,2	MCF-7	breast:
8	chr10:18910399..18912492-chr10:18914485..18916630,2	MCF-7	breast:
9	chr10:18929497..18932239-chr10:18933812..18935882,2	MCF-7	breast:
10	chr10:18921869..18924781-chr10:18927596..18930415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241058	chromatin interactions
ENSG00000152487	chromatin interactions
ENSG00000165997	chromatin interactions

Extended variants
information (count: 971 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575617784	chr10:18912033-18912034	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549000131	chr10:18912074-18912075	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150923477	chr10:18912281-18912282	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140720082	chr10:18912302-18912303	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191592646	chr10:18912332-18912333	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540328646	chr10:18912345-18912346	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150102944	chr10:18912348-18912349	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532554764	chr10:18912350-18912351	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551270136	chr10:18912351-18912352	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138726723	chr10:18912360-18912361	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529293077	chr10:18912366-18912367	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529694261	chr10:18912372-18912373	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76568788	chr10:18912400-18912401	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7089083	chr10:18912402-18912403	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533919858	chr10:18912408-18912409	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533330436	chr10:18912468-18912469	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111318127	chr10:18912490-18912491	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569132683	chr10:18912504-18912505	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117045087	chr10:18912518-18912519	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56297487	chr10:18912532-18912533	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183728947	chr10:18912606-18912607	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55723923	chr10:18912636-18912637	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556426599	chr10:18912658-18912659	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568226085	chr10:18912667-18912668	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558040152	chr10:18912690-18912691	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7099423	chr10:18912702-18912703	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs143821816	chr10:18912736-18912737	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142777119	chr10:18912747-18912748	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111376938	chr10:18912761-18912762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12778035	chr10:18912766-18912767	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs558594192	chr10:18912769-18912770	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375003993	chr10:18912774-18912775	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541980515	chr10:18912820-18912821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555759481	chr10:18912824-18912825	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549943450	chr10:18912842-18912843	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190504439	chr10:18912864-18912865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563204252	chr10:18912894-18912895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530365015	chr10:18912896-18912897	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369785106	chr10:18912899-18912900	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560217914	chr10:18912970-18912971	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527261960	chr10:18913008-18913009	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552317141	chr10:18913011-18913012	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535470960	chr10:18913014-18913015	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574033450	chr10:18913024-18913025	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553769215	chr10:18913035-18913036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570516017	chr10:18913037-18913038	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144537814	chr10:18913066-18913067	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531543571	chr10:18913089-18913090	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561850798	chr10:18913113-18913114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147814527	chr10:18913127-18913128	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18848400-18915800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18867800-18916400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:18868000-18916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:18870600-18916000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:18872800-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:18873600-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:18875000-18916000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:18875600-18912600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr10:18877200-18916200	Weak transcription	Thymus	Thymus
10	chr10:18877200-18916400	Weak transcription	Spleen	Spleen
11	chr10:18877400-18916200	Weak transcription	Pancreas	Pancrea
12	chr10:18877400-18916400	Weak transcription	Psoas Muscle	Psoas
13	chr10:18877600-18916400	Weak transcription	Gastric	stomach
14	chr10:18878000-18915600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:18881400-18916400	Weak transcription	Brain Angular Gyrus	brain
16	chr10:18882000-18916200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:18884200-18916400	Weak transcription	Aorta	Aorta
18	chr10:18884600-18916400	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:18885400-18916200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:18885400-18916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:18891600-18916400	Weak transcription	Lung	lung
22	chr10:18895600-18916400	Weak transcription	Left Ventricle	heart
23	chr10:18896600-18916400	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:18896600-18916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:18896800-18916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:18897200-18916400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:18898400-18916400	Weak transcription	Fetal Kidney	kidney
28	chr10:18898400-18916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:18900000-18912600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:18900000-18915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:18900000-18915800	Weak transcription	NHEK	skin
32	chr10:18900000-18916200	Weak transcription	NHLF	lung
33	chr10:18900000-18916600	Weak transcription	Stomach Mucosa	stomach
34	chr10:18900200-18915800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:18900200-18916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:18900400-18916200	Weak transcription	NH-A	brain
37	chr10:18900400-18916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:18900600-18916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:18900800-18915000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:18900800-18916400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:18901200-18912400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:18901200-18915600	Weak transcription	Fetal Lung	lung
43	chr10:18901200-18916400	Weak transcription	Esophagus	oesophagus
44	chr10:18901400-18915600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:18901400-18915800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:18901400-18916000	Weak transcription	Fetal Brain Female	brain
47	chr10:18901400-18916200	Weak transcription	Ovary	ovary
48	chr10:18901400-18916200	Weak transcription	HSMM	muscle
49	chr10:18901400-18916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:18901600-18916200	Weak transcription	Brain Germinal Matrix	brain

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