Variant report

Variant	nsv1010680
Chromosome Location	chr3:191215955-191258074
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:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191220889..191222915-chr3:191232915..191235559,2	K562	blood:
2	chr3:191225898..191226670-chr7:134967404..134968269,2	MCF-7	breast:
3	chr3:191220889..191222915-chr3:191232915..191235559,2	K562	blood:
4	chr3:191220103..191221050-chr3:191527147..191528017,3	MCF-7	breast:
5	chr3:191235981..191238025-chr3:191243524..191245044,2	K562	blood:
6	chr3:191219513..191222335-chr3:191222361..191224281,2	MCF-7	breast:
7	chr3:191142125..191144834-chr3:191234046..191236954,2	K562	blood:
8	chr3:191235464..191238478-chr3:191239640..191243187,3	K562	blood:
9	chr3:191233811..191235655-chr3:191242396..191244092,2	K562	blood:
10	chr3:191144312..191145933-chr3:191218364..191220735,2	K562	blood:
11	chr3:191223279..191226273-chr3:191227668..191229935,2	K562	blood:
12	chr3:191219513..191222335-chr3:191222361..191224281,2	MCF-7	breast:
13	chr3:191202788..191205385-chr3:191217397..191220401,3	K562	blood:
14	chr3:191223279..191226273-chr3:191227668..191229935,2	K562	blood:
15	chr3:191243722..191246308-chr3:191248023..191250359,2	MCF-7	breast:
16	chr3:191233811..191235655-chr3:191242396..191244092,2	K562	blood:
17	chr3:191225876..191227408-chr3:191230738..191233284,2	K562	blood:
18	chr3:191224872..191227257-chr3:191228159..191230428,2	K562	blood:
19	chr3:191220446..191222407-chr3:191229444..191232369,2	K562	blood:
20	chr3:191224872..191227257-chr3:191228159..191230428,2	K562	blood:
21	chr3:191161495..191163319-chr3:191214944..191216850,2	K562	blood:
22	chr3:191220446..191222407-chr3:191229444..191232369,2	K562	blood:
23	chr3:191235464..191238478-chr3:191239640..191243187,3	K562	blood:
24	chr3:191245150..191247720-chr3:191249087..191253104,4	K562	blood:
25	chr3:191225876..191227408-chr3:191230738..191233284,2	K562	blood:
26	chr3:191210173..191212267-chr3:191228106..191229922,2	K562	blood:
27	chr17:56736314..56737969-chr3:191250717..191252860,2	MCF-7	breast:
28	chr3:191243722..191246308-chr3:191248023..191250359,2	MCF-7	breast:
29	chr3:191245150..191247720-chr3:191249087..191253104,4	K562	blood:
30	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
31	chr3:191235981..191238025-chr3:191243524..191245044,2	K562	blood:
32	chr3:191145766..191148014-chr3:191221969..191224844,2	K562	blood:
33	chr3:191150064..191152045-chr3:191218500..191220211,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PYDC2-6	chr3:191248615-191248639	NONHSAT093968
2	lnc-PYDC2-6	chr3:191249358-191250570	NONHSAT093968

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 1325 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7632409	chr3:191215955-191215956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578013712	chr3:191215999-191216000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7642724	chr3:191216000-191216001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553103447	chr3:191216020-191216021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115590753	chr3:191216021-191216022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542007904	chr3:191216052-191216053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561839837	chr3:191216053-191216054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7632529	chr3:191216111-191216112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184708572	chr3:191216211-191216212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564313541	chr3:191216422-191216423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553759912	chr3:191216479-191216480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533473258	chr3:191216490-191216491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528442861	chr3:191216498-191216499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573186090	chr3:191216500-191216501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547223460	chr3:191216610-191216611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146180833	chr3:191216695-191216696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545336927	chr3:191216704-191216705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188614746	chr3:191216773-191216774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192817783	chr3:191216836-191216837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568948901	chr3:191216895-191216896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537910746	chr3:191216918-191216919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551616224	chr3:191216998-191216999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571382658	chr3:191216999-191217000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533850200	chr3:191217020-191217021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184885507	chr3:191217048-191217049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139460299	chr3:191217051-191217052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535443406	chr3:191217071-191217072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368841758	chr3:191217127-191217128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555469382	chr3:191217167-191217168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575357659	chr3:191217198-191217199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189446596	chr3:191217229-191217230	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs557931798	chr3:191217276-191217277	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs9790048	chr3:191217315-191217316	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs77217688	chr3:191217364-191217365	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs560822705	chr3:191217377-191217378	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs7624440	chr3:191217392-191217393	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs528907017	chr3:191217412-191217413	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs9790317	chr3:191217492-191217493	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544415229	chr3:191217534-191217535	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs144138880	chr3:191217614-191217615	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs541471674	chr3:191217623-191217624	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs180977303	chr3:191217714-191217715	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs561194085	chr3:191217757-191217758	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs183565543	chr3:191217775-191217776	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs73888622	chr3:191217821-191217822	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561337555	chr3:191217838-191217839	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs189515480	chr3:191217891-191217892	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs369155234	chr3:191217907-191217908	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs536114017	chr3:191217939-191217940	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs367684208	chr3:191217944-191217945	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191195000-191216600	Weak transcription	K562	blood
2	chr3:191211400-191216800	Weak transcription	Fetal Heart	heart
3	chr3:191211800-191217000	Weak transcription	Fetal Lung	lung
4	chr3:191216600-191217200	Enhancers	K562	blood
5	chr3:191216800-191217400	Enhancers	Fetal Heart	heart
6	chr3:191217000-191217200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:191217000-191217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:191217000-191217200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:191217000-191217200	Enhancers	Fetal Lung	lung
10	chr3:191217000-191217200	Enhancers	HMEC	breast
11	chr3:191217000-191217600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:191217200-191217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:191217200-191217400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:191217200-191217400	Enhancers	Brain Anterior Caudate	brain
15	chr3:191217200-191217400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr3:191217200-191217400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:191217200-191217400	Flanking Active TSS	Fetal Lung	lung
18	chr3:191217200-191217400	Enhancers	Ovary	ovary
19	chr3:191217200-191217600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr3:191217200-191217600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:191217200-191217600	Active TSS	Fetal Stomach	stomach
22	chr3:191217200-191217600	Enhancers	Stomach Mucosa	stomach
23	chr3:191217200-191217800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:191217200-191217800	Active TSS	Brain Hippocampus Middle	brain
25	chr3:191217200-191217800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:191217200-191217800	Active TSS	Brain Substantia Nigra	brain
27	chr3:191217200-191217800	Enhancers	NHEK	skin
28	chr3:191217200-191218000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:191217200-191218000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:191217200-191218000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:191217200-191218000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:191217200-191218000	Active TSS	Fetal Kidney	kidney
33	chr3:191217200-191218000	Flanking Active TSS	K562	blood
34	chr3:191217200-191218200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr3:191217200-191218200	Flanking Active TSS	HMEC	breast
36	chr3:191217200-191218400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:191217400-191217600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:191217400-191217600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr3:191217400-191217600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr3:191217400-191217600	Active TSS	Fetal Brain Female	brain
41	chr3:191217400-191217600	Flanking Active TSS	Fetal Heart	heart
42	chr3:191217400-191217600	Active TSS	Fetal Intestine Small	intestine
43	chr3:191217400-191217600	Active TSS	Right Ventricle	heart
44	chr3:191217400-191217800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:191217400-191217800	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:191217400-191217800	Enhancers	Fetal Muscle Leg	muscle
47	chr3:191217400-191217800	Flanking Active TSS	Left Ventricle	heart
48	chr3:191217400-191218000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:191217400-191218000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:191217400-191218000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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