Variant report

Variant	nsv1011685
Chromosome Location	chr3:143959237-144218424
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:50)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
2	chr17:56707384..56710273-chr3:144036844..144039092,2	MCF-7	breast:
3	chr3:143690687..143692253-chr3:144007125..144008743,2	MCF-7	breast:
4	chr3:143985749..143987878-chr3:143995682..143998153,2	MCF-7	breast:
5	chr3:143976073..143978906-chr3:143983000..143985910,2	K562	blood:
6	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:
7	chr3:143962916..143965594-chr3:143970666..143973506,3	MCF-7	breast:
8	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
9	chr3:144094616..144096887-chr3:144098743..144100818,2	MCF-7	breast:
10	chr3:143892267..143895225-chr3:144092173..144094543,2	MCF-7	breast:
11	chr3:144081380..144083879-chr3:144086232..144088333,2	MCF-7	breast:
12	chr3:143690973..143693755-chr3:144096094..144098139,2	K562	blood:
13	chr3:144110259..144111944-chr3:144113646..144116432,2	K562	blood:
14	chr3:143689712..143692723-chr3:144026505..144028595,3	MCF-7	breast:
15	chr3:143962916..143965594-chr3:143970666..143973506,3	MCF-7	breast:
16	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
17	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:
18	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:
19	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
20	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:
21	chr3:144126513..144128962-chr3:144132805..144134458,2	MCF-7	breast:
22	chr3:143985749..143987878-chr3:143995682..143998153,2	MCF-7	breast:
23	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:
24	chr3:143970717..143972446-chr3:143972808..143975131,2	K562	blood:
25	chr12:53061288..53061963-chr3:143990811..143991640,2	MCF-7	breast:
26	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
27	chr3:143970717..143972446-chr3:143972808..143975131,2	K562	blood:
28	chr3:144081380..144083879-chr3:144086232..144088333,2	MCF-7	breast:
29	chr3:144110259..144111944-chr3:144113646..144116432,2	K562	blood:
30	chr3:143691289..143694022-chr3:144110029..144111765,2	MCF-7	breast:
31	chr3:144126513..144128962-chr3:144132805..144134458,2	MCF-7	breast:
32	chr3:144137145..144137665-chr9:72287895..72288430,2	MCF-7	breast:
33	chr3:143690773..143693147-chr3:144024947..144027838,2	K562	blood:
34	chr3:144076844..144079505-chr3:144082991..144084942,2	MCF-7	breast:
35	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
36	chr3:143691583..143692190-chr3:144216201..144216835,2	MCF-7	breast:
37	chr3:143689784..143692345-chr3:144032931..144035365,2	MCF-7	breast:
38	chr3:143690347..143692960-chr3:144205588..144207110,2	MCF-7	breast:
39	chr3:144076844..144079505-chr3:144082991..144084942,2	MCF-7	breast:
40	chr3:143691791..143694005-chr3:143990028..143992353,2	K562	blood:
41	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
42	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:
43	chr3:143690547..143692210-chr3:143990164..143992308,2	MCF-7	breast:
44	chr3:143694158..143694846-chr3:143996996..143997942,2	MCF-7	breast:
45	chr3:143940644..143942210-chr3:144039456..144041845,2	MCF-7	breast:
46	chr3:143691010..143693242-chr3:144094266..144096322,2	MCF-7	breast:
47	chr12:53342265..53345092-chr3:144025098..144026936,2	MCF-7	breast:
48	chr3:144094616..144096887-chr3:144098743..144100818,2	MCF-7	breast:
49	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
50	chr3:143976073..143978906-chr3:143983000..143985910,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-4	chr3:144142931-144144066	ucscGeneNc_uc003eve_1
2	lnc-C3orf58-4	chr3:144140007-144140185	ucscGeneNc_uc003eve_1
3	lnc-C3orf58-5	chr3:144166644-144167475	l_2489_chr3:144165582-144166599_brain
4	lnc-C3orf58-5	chr3:144166278-144166634	l_2489_chr3:144165582-144166599_brain
5	lnc-C3orf58-4	chr3:144137955-144138178	ucscGeneNc_uc003eve_1
6	lnc-C3orf58-5	chr3:144165583-144165630	l_2489_chr3:144165582-144166599_brain
7	lnc-C3orf58-4	chr3:144134737-144134800	ucscGeneNc_uc003eve_1
8	lnc-SLC9A9-2	chr3:144202378-144202999	refGeneNc_4352_NR_034032
9	lnc-C3orf58-5	chr3:144165958-144166168	l_2489_chr3:144165582-144166599_brain
10	lnc-SLC9A9-1	chr3:144160698-144160704	NONHSAT092536
11	lnc-C3orf58-4	chr3:144128207-144128428	ucscGeneNc_uc003eve_1
12	lnc-SLC9A9-1	chr3:144161053-144164686	NONHSAT092536

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 7105 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:7105 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537830226	chr3:143959268-143959269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193259279	chr3:143959299-143959300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562332957	chr3:143959333-143959334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78297723	chr3:143959334-143959335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144410476	chr3:143959378-143959379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561244974	chr3:143959460-143959461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199536250	chr3:143959473-143959474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185019193	chr3:143959511-143959512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571201132	chr3:143959577-143959578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367811884	chr3:143959579-143959580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546685549	chr3:143959665-143959666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78059626	chr3:143959673-143959674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189043109	chr3:143959715-143959716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551332692	chr3:143959725-143959726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569453970	chr3:143959744-143959745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536862223	chr3:143959751-143959752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535654595	chr3:143959765-143959766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541213646	chr3:143959823-143959824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553910076	chr3:143959850-143959851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375069609	chr3:143959930-143959931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538785963	chr3:143959975-143959976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576469357	chr3:143959981-143959982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572592027	chr3:143960044-143960045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143126053	chr3:143960045-143960046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544085949	chr3:143960047-143960048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192341693	chr3:143960062-143960063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546228034	chr3:143960195-143960196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72998036	chr3:143960196-143960197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34003398	chr3:143960309-143960310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545391599	chr3:143960332-143960333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147812862	chr3:143960346-143960347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561391477	chr3:143960356-143960357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573258145	chr3:143960382-143960383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16855113	chr3:143960415-143960416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368711714	chr3:143960416-143960417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77465725	chr3:143960483-143960484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139653404	chr3:143960535-143960536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184084845	chr3:143960651-143960652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372642530	chr3:143960652-143960653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149969228	chr3:143960660-143960661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548500936	chr3:143960684-143960685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57369972	chr3:143960712-143960713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576798879	chr3:143960769-143960770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374980864	chr3:143960906-143960907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188814478	chr3:143961019-143961020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114262413	chr3:143961054-143961055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35092397	chr3:143961062-143961063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552280794	chr3:143961094-143961095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145070321	chr3:143961099-143961100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537466801	chr3:143961192-143961193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143958200-143960200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:143958400-143959600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:143959600-143960600	Enhancers	Colon Smooth Muscle	Colon
4	chr3:143959600-143962000	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:143959800-143962000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:143960200-143960600	Enhancers	HSMMtube	muscle
7	chr3:143960200-143960800	Enhancers	Brain Hippocampus Middle	brain
8	chr3:143960200-143961800	Enhancers	Brain Substantia Nigra	brain
9	chr3:143960200-143962000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:143960400-143960600	Enhancers	Ovary	ovary
11	chr3:143960400-143960800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:143960600-143961000	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:143960600-143962000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:143960800-143961200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:143960800-143961200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:143960800-143961800	Weak transcription	Ovary	ovary
17	chr3:143961000-143962200	Enhancers	Colon Smooth Muscle	Colon
18	chr3:143961200-143962000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:143961200-143962200	Enhancers	Brain Hippocampus Middle	brain
20	chr3:143961600-143962000	Enhancers	Brain Angular Gyrus	brain
21	chr3:143962000-143963800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:143963600-143963800	Enhancers	Ovary	ovary
23	chr3:143963800-143964400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:143974400-143975000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:143974600-143976800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:143974800-143975200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:143975400-143976200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr3:143975800-143976000	Enhancers	Colon Smooth Muscle	Colon
29	chr3:143976200-143977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:143976600-143976800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:143976600-143976800	Enhancers	Colon Smooth Muscle	Colon
32	chr3:143976800-143980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:143980000-143981000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:143980800-143982800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:143981000-143983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:143982600-143982800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:143982800-143983000	Enhancers	Brain Hippocampus Middle	brain
38	chr3:143982800-143983400	Enhancers	GM12878-XiMat	blood
39	chr3:143982800-143983800	Enhancers	Aorta	Aorta
40	chr3:143982800-143983800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:143982800-143984000	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:143982800-143984400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:143982800-143985000	Enhancers	Brain Substantia Nigra	brain
44	chr3:143983000-143983600	Enhancers	Fetal Stomach	stomach
45	chr3:143983000-143984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:143983200-143984000	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:143983400-143984400	Weak transcription	GM12878-XiMat	blood
48	chr3:143983400-143984800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:143983400-143985000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:143983800-143984200	Weak transcription	Brain Inferior Temporal Lobe	brain

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