Variant report

Variant	nsv948154
Chromosome Location	chr10:98674341-98676825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:98675177-98675253	MCF-7	breast:	n/a	n/a
2	PAX5	chr10:98675570-98675755	GM12878	blood:	n/a	chr10:98675699-98675717 chr10:98675701-98675718 chr10:98675700-98675719
3	POLR2A	chr10:98675661-98675715	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:98674530-98674542	MCF-7	breast:	n/a	n/a
5	POLR2A	chr10:98675431-98675704	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:98592597..98594395-chr10:98671639..98674346,2	MCF-7	breast:
2	chr10:98672007..98674057-chr10:98676669..98679215,2	MCF-7	breast:
3	chr10:98676150..98678245-chr10:98682873..98684599,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP19-2	chr10:98675390-98675659	NONHSAT015840

Variant related genes	Relation type
ENSG00000221465	TF binding region
HMGN2P35	TF binding region
ENSG00000196233	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55884679	chr10:98674347-98674348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189752907	chr10:98674362-98674363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181857292	chr10:98674400-98674401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs568863132	chr10:98674451-98674452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186962671	chr10:98674453-98674454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554668755	chr10:98674459-98674460	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572827124	chr10:98674469-98674470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372300896	chr10:98674470-98674471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556203254	chr10:98674530-98674531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558293273	chr10:98674533-98674534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113567276	chr10:98674577-98674578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149175253	chr10:98674622-98674623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148116227	chr10:98674692-98674693	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562615708	chr10:98674708-98674709	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574809589	chr10:98674715-98674716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541823871	chr10:98674773-98674774	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560655524	chr10:98674785-98674786	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386746817	chr10:98674859-98674860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527736325	chr10:98674870-98674871	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552695200	chr10:98674896-98674897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564717850	chr10:98674917-98674918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs561536629	chr10:98674919-98674920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs190457005	chr10:98674933-98674934	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550529532	chr10:98674934-98674935	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10430660	chr10:98674939-98674940	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540331004	chr10:98674941-98674942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183406159	chr10:98674943-98674944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186332199	chr10:98674944-98674945	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114488957	chr10:98674953-98674954	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12249381	chr10:98674971-98674972	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146052553	chr10:98674993-98674994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540102608	chr10:98674999-98675000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12249427	chr10:98675006-98675007	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138818720	chr10:98675015-98675016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372772148	chr10:98675042-98675043	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556435575	chr10:98675062-98675063	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566897899	chr10:98675065-98675066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142927542	chr10:98675108-98675109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150791762	chr10:98675138-98675139	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138071207	chr10:98675147-98675148	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546347871	chr10:98675150-98675151	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149460970	chr10:98675151-98675152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548844059	chr10:98675179-98675180	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs377659400	chr10:98675202-98675203	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562409765	chr10:98675205-98675206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375161525	chr10:98675209-98675210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545692948	chr10:98675244-98675245	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548063086	chr10:98675251-98675252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544677877	chr10:98675256-98675257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377310119	chr10:98675269-98675270	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98611000-98713000	Weak transcription	Aorta	Aorta
2	chr10:98624800-98696000	Weak transcription	K562	blood
3	chr10:98636800-98683400	Weak transcription	Osteobl	bone
4	chr10:98637400-98708800	Weak transcription	NH-A	brain
5	chr10:98639800-98714600	Weak transcription	Esophagus	oesophagus
6	chr10:98640600-98714600	Weak transcription	Hela-S3	cervix
7	chr10:98644800-98674600	Weak transcription	Spleen	Spleen
8	chr10:98644800-98681400	Weak transcription	Right Ventricle	heart
9	chr10:98645400-98678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:98650200-98674600	Weak transcription	Thymus	Thymus
11	chr10:98650200-98708800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:98652600-98674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:98653400-98675200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:98653400-98714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:98654200-98675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:98656000-98675400	Weak transcription	Pancreas	Pancrea
17	chr10:98657400-98705800	Weak transcription	NHDF-Ad	bronchial
18	chr10:98659000-98714600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:98661600-98675400	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:98661800-98678000	Weak transcription	Right Atrium	heart
21	chr10:98661800-98680600	Weak transcription	Left Ventricle	heart
22	chr10:98662800-98687600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:98663000-98674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:98663000-98688000	Weak transcription	Adipose Nuclei	Adipose
25	chr10:98663000-98695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:98663000-98720400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:98663400-98691200	Weak transcription	Small Intestine	intestine
28	chr10:98663600-98678000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:98663600-98689400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:98663600-98714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:98664400-98678000	Weak transcription	Gastric	stomach
32	chr10:98664400-98678200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:98664400-98696400	Weak transcription	NHLF	lung
34	chr10:98664800-98714000	Weak transcription	Colonic Mucosa	Colon
35	chr10:98665000-98714800	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:98666000-98686000	Weak transcription	NHEK	skin
37	chr10:98666000-98714600	Weak transcription	Fetal Brain Female	brain
38	chr10:98666200-98680600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr10:98666800-98674400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:98666800-98687800	Weak transcription	HUVEC	blood vessel
41	chr10:98667000-98677400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:98667000-98682200	Weak transcription	HSMMtube	muscle
43	chr10:98667000-98685800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:98667000-98688200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:98667200-98683800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:98667200-98708800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:98667400-98674400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:98667600-98675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:98668800-98698800	Weak transcription	Fetal Kidney	kidney
50	chr10:98669200-98674400	Weak transcription	Primary monocytes fromperipheralblood	blood

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