Variant report

Variant	nsv933676
Chromosome Location	chr3:121517764-121528304
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121518964..121521097-chr3:121656620..121658733,2	MCF-7	breast:
2	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
3	chr3:121466668..121468934-chr3:121518860..121521865,3	MCF-7	breast:
4	chr3:121515767..121519449-chr3:121522232..121524436,3	MCF-7	breast:
5	chr3:121523456..121525541-chr3:121550635..121553696,3	K562	blood:
6	chr3:121515767..121519449-chr3:121522232..121524436,3	MCF-7	breast:
7	chr3:121522927..121524938-chr3:121541691..121544252,2	MCF-7	breast:
8	chr3:121498095..121500834-chr3:121519561..121521853,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163406	chromatin interactions
ENSG00000173230	chromatin interactions

Extended variants
information (count: 367 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534701601	chr3:121517782-121517783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9883467	chr3:121517833-121517834	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs574396981	chr3:121517845-121517846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188888818	chr3:121517920-121517921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12492214	chr3:121517997-121517998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs374611472	chr3:121518006-121518007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376598599	chr3:121518016-121518017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150654358	chr3:121518051-121518052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542575667	chr3:121518052-121518053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552955528	chr3:121518060-121518061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372507201	chr3:121518130-121518131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374171721	chr3:121518131-121518132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573000867	chr3:121518141-121518142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202164315	chr3:121518173-121518174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80015876	chr3:121518221-121518222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370451583	chr3:121518226-121518227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533006146	chr3:121518236-121518237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574290389	chr3:121518237-121518238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77787916	chr3:121518315-121518316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114055652	chr3:121518342-121518343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529212671	chr3:121518371-121518372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548951977	chr3:121518385-121518386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370991133	chr3:121518437-121518438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192221504	chr3:121518446-121518447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13062922	chr3:121518532-121518533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528179121	chr3:121518533-121518534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370078369	chr3:121518566-121518567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112061391	chr3:121518572-121518573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142944310	chr3:121518576-121518577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146630876	chr3:121518608-121518609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537215076	chr3:121518642-121518643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557540451	chr3:121518657-121518658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183983682	chr3:121518670-121518671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190010443	chr3:121518774-121518775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536597945	chr3:121518822-121518823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141457155	chr3:121518865-121518866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572936949	chr3:121518886-121518887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180722709	chr3:121518973-121518974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539099714	chr3:121518982-121518983	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375195177	chr3:121519000-121519001	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558751948	chr3:121519149-121519150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575705536	chr3:121519151-121519152	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545641787	chr3:121519181-121519182	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113835608	chr3:121519196-121519197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563475719	chr3:121519238-121519239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144585168	chr3:121519280-121519281	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542982573	chr3:121519372-121519373	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572543946	chr3:121519374-121519375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367947887	chr3:121519377-121519378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559370697	chr3:121519387-121519388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:121487800-121519000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:121488600-121517800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:121489800-121529800	Weak transcription	Aorta	Aorta
6	chr3:121490000-121529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:121490000-121529800	Weak transcription	Pancreas	Pancrea
8	chr3:121491600-121552600	Weak transcription	NHLF	lung
9	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
10	chr3:121494400-121518800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:121494400-121530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:121500200-121524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:121500600-121528200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:121501200-121524000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:121501400-121529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:121504800-121524000	Weak transcription	Hela-S3	cervix
18	chr3:121505000-121521400	Weak transcription	Fetal Intestine Small	intestine
19	chr3:121505800-121523600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:121506400-121529800	Weak transcription	Fetal Stomach	stomach
21	chr3:121507000-121529800	Weak transcription	Colonic Mucosa	Colon
22	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
23	chr3:121507200-121536000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:121508000-121523600	Weak transcription	Fetal Brain Female	brain
25	chr3:121508000-121525000	Weak transcription	Thymus	Thymus
26	chr3:121508000-121529800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:121508200-121535800	Weak transcription	Psoas Muscle	Psoas
28	chr3:121508400-121518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:121508400-121523200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:121508400-121524400	Weak transcription	Left Ventricle	heart
31	chr3:121508400-121524400	Weak transcription	Lung	lung
32	chr3:121508400-121529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:121508400-121529800	Weak transcription	Esophagus	oesophagus
34	chr3:121508400-121536400	Weak transcription	HUVEC	blood vessel
35	chr3:121508600-121523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:121508600-121523400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:121508600-121523600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:121508600-121524800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:121508600-121525000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:121508600-121529600	Weak transcription	Brain Substantia Nigra	brain
41	chr3:121508600-121529800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:121508600-121529800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:121508600-121529800	Weak transcription	NHEK	skin
44	chr3:121508600-121541400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:121508800-121523600	Weak transcription	HMEC	breast
46	chr3:121508800-121524400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:121508800-121525200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr3:121508800-121530000	Weak transcription	Brain Germinal Matrix	brain
49	chr3:121508800-121530200	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:121509000-121521400	Weak transcription	Fetal Kidney	kidney

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