Variant report

Variant	nsv1008414
Chromosome Location	chr3:143779087-143853396
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143693440..143695168-chr3:143824981..143826507,2	K562	blood:
2	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
3	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
4	chr3:143690019..143692645-chr3:143838592..143840602,2	MCF-7	breast:
5	chr3:143689363..143691415-chr3:143803802..143806594,3	MCF-7	breast:
6	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
7	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
8	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
9	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
10	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
11	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
12	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
13	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
14	chr3:143689845..143691660-chr3:143783573..143785745,2	K562	blood:
15	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
16	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
17	chr3:143733934..143736908-chr3:143779115..143781560,2	K562	blood:
18	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
19	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
20	chr3:143690118..143691701-chr3:143832544..143834145,2	K562	blood:
21	chr3:61879348..61880969-chr3:143831622..143834006,2	MCF-7	breast:
22	chr3:143717685..143719346-chr3:143782583..143784716,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 1964 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1964 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111403595	chr3:143779088-143779089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533831606	chr3:143779160-143779161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552442510	chr3:143779164-143779165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547487299	chr3:143779166-143779167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570656356	chr3:143779181-143779182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180854620	chr3:143779211-143779212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184655574	chr3:143779269-143779270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200846379	chr3:143779279-143779280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139965113	chr3:143779280-143779281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201703046	chr3:143779282-143779283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11298949	chr3:143779358-143779359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397755267	chr3:143779369-143779370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574608916	chr3:143779373-143779374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149695831	chr3:143779406-143779407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145533089	chr3:143779412-143779413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190337177	chr3:143779430-143779431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540316724	chr3:143779547-143779548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35038099	chr3:143779582-143779583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79950617	chr3:143779635-143779636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148427940	chr3:143779669-143779670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182462307	chr3:143779712-143779713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371470114	chr3:143779722-143779723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142629959	chr3:143779734-143779735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146481144	chr3:143779766-143779767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141128831	chr3:143779791-143779792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73875509	chr3:143779874-143779875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374750649	chr3:143779929-143779930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559884704	chr3:143779931-143779932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144098283	chr3:143779932-143779933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527430151	chr3:143779934-143779935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547988713	chr3:143779935-143779936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570694309	chr3:143779936-143779937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538053129	chr3:143779941-143779942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565899172	chr3:143779949-143779950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375615651	chr3:143779951-143779952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185950112	chr3:143779965-143779966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143453727	chr3:143779976-143779977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535345130	chr3:143779997-143779998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557981013	chr3:143780008-143780009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554985016	chr3:143780033-143780034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9811496	chr3:143780103-143780104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534064344	chr3:143780120-143780121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116828896	chr3:143780144-143780145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371275651	chr3:143780150-143780151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576900932	chr3:143780187-143780188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75724375	chr3:143780212-143780213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376619197	chr3:143780219-143780220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555869854	chr3:143780234-143780235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569656441	chr3:143780392-143780393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562901140	chr3:143780438-143780439	Weak transcription	n/a	n/a	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
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

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143775400-143788400	Weak transcription	HSMMtube	muscle
2	chr3:143778200-143779600	Enhancers	Brain Anterior Caudate	brain
3	chr3:143778800-143779400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:143778800-143779400	Enhancers	Brain Angular Gyrus	brain
5	chr3:143778800-143779400	Enhancers	Brain Substantia Nigra	brain
6	chr3:143779000-143779600	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:143779400-143783200	Weak transcription	Brain Angular Gyrus	brain
8	chr3:143779400-143783200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:143779600-143783600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:143783200-143784200	Enhancers	Brain Substantia Nigra	brain
11	chr3:143783200-143784400	Enhancers	Brain Angular Gyrus	brain
12	chr3:143783600-143784600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:143783800-143784600	Enhancers	Brain Hippocampus Middle	brain
14	chr3:143784400-143785600	Weak transcription	Brain Angular Gyrus	brain
15	chr3:143785400-143785800	Enhancers	HSMM	muscle
16	chr3:143785600-143785800	Enhancers	Brain Angular Gyrus	brain
17	chr3:143785600-143785800	Enhancers	Brain Anterior Caudate	brain
18	chr3:143785800-143788600	Weak transcription	HSMM	muscle
19	chr3:143786400-143786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:143788400-143788600	Enhancers	HSMMtube	muscle
21	chr3:143788600-143789000	Enhancers	HSMM	muscle
22	chr3:143788600-143789600	Weak transcription	HSMMtube	muscle
23	chr3:143792000-143792200	Active TSS	Fetal Brain Male	brain
24	chr3:143792000-143792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:143792000-143792600	Enhancers	HSMMtube	muscle
26	chr3:143792200-143792600	Enhancers	Fetal Brain Male	brain
27	chr3:143792200-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:143792200-143793400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:143792200-143793400	Enhancers	HSMM	muscle
30	chr3:143792400-143792800	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:143792600-143792800	Active TSS	Fetal Brain Male	brain
32	chr3:143792600-143793400	Enhancers	NHEK	skin
33	chr3:143792600-143793800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:143793000-143793400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:143804600-143805400	Enhancers	NHEK	skin
36	chr3:143804800-143805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:143806200-143806400	ZNF genes & repeats	Pancreas	Pancrea
38	chr3:143809600-143821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:143814200-143814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:143814400-143814600	Enhancers	Aorta	Aorta
41	chr3:143814400-143817000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:143814400-143818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:143814600-143815000	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:143814600-143817600	Weak transcription	Aorta	Aorta
45	chr3:143814800-143815600	Enhancers	Brain Anterior Caudate	brain
46	chr3:143815000-143816200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:143815000-143816800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:143815400-143816800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:143815400-143816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:143815600-143816000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links