Variant report

Variant	esv3413383
Chromosome Location	chr3:195688055-195692753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNK2-6	chr3:195688656-195689069	expReg_chr3_13675_-

Extended variants
information (count: 358 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:358 , 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	rs201356914	chr3:195688076-195688077	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139345438	chr3:195688106-195688107	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141586514	chr3:195688130-195688131	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561030146	chr3:195688138-195688139	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528280696	chr3:195688141-195688142	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147038037	chr3:195688166-195688167	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571446383	chr3:195688177-195688178	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138244263	chr3:195688183-195688184	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369229975	chr3:195688188-195688189	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538667941	chr3:195688192-195688193	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567389175	chr3:195688196-195688197	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372229685	chr3:195688203-195688204	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374917357	chr3:195688219-195688220	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191617529	chr3:195688220-195688221	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561438301	chr3:195688222-195688223	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373258027	chr3:195688227-195688228	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535912744	chr3:195688237-195688238	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537349120	chr3:195688238-195688239	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369330206	chr3:195688239-195688240	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554754582	chr3:195688262-195688263	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573133031	chr3:195688290-195688291	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111545989	chr3:195688298-195688299	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375370663	chr3:195688308-195688309	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114155151	chr3:195688314-195688315	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183536833	chr3:195688315-195688316	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149593867	chr3:195688363-195688364	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562843274	chr3:195688368-195688369	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72499667	chr3:195688403-195688404	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533042491	chr3:195688408-195688409	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377379232	chr3:195688431-195688432	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138388057	chr3:195688439-195688440	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560547184	chr3:195688444-195688445	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113980457	chr3:195688445-195688446	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566799742	chr3:195688446-195688447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528339946	chr3:195688449-195688450	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200948205	chr3:195688471-195688472	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs376232836	chr3:195688477-195688478	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546467031	chr3:195688479-195688480	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190989579	chr3:195688481-195688482	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74491453	chr3:195688488-195688489	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183177256	chr3:195688495-195688496	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186789525	chr3:195688500-195688501	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112676825	chr3:195688502-195688503	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144267475	chr3:195688503-195688504	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191276629	chr3:195688507-195688508	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567718985	chr3:195688509-195688510	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535827529	chr3:195688518-195688519	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547907863	chr3:195688519-195688520	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372768533	chr3:195688529-195688530	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113186203	chr3:195688544-195688545	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195665200-195691800	Weak transcription	HSMMtube	muscle
2	chr3:195677800-195691800	Weak transcription	NHDF-Ad	bronchial
3	chr3:195678000-195696200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:195679000-195691600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:195679000-195695800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:195681600-195691600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:195681600-195696200	Weak transcription	Primary B cells from cord blood	blood
8	chr3:195681800-195688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:195681800-195688600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:195681800-195688800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:195681800-195689400	Weak transcription	A549	lung
12	chr3:195681800-195691600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:195681800-195691600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:195681800-195691600	Weak transcription	Stomach Mucosa	stomach
15	chr3:195681800-195695600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:195681800-195696200	Weak transcription	HepG2	liver
17	chr3:195681800-195696400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:195681800-195696400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:195681800-195696800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:195682000-195691600	Weak transcription	HMEC	breast
21	chr3:195682600-195689400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:195682600-195689400	Weak transcription	Osteobl	bone
23	chr3:195682600-195691600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:195682600-195691600	Weak transcription	NHLF	lung
25	chr3:195682600-195693400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr3:195682600-195697000	Weak transcription	Fetal Lung	lung
27	chr3:195682600-195715600	Weak transcription	Psoas Muscle	Psoas
28	chr3:195682800-195688600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:195682800-195689400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:195682800-195691000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:195682800-195691600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:195682800-195696200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:195682800-195696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:195683400-195696600	Weak transcription	HUVEC	blood vessel
35	chr3:195683600-195690400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr3:195683600-195711800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:195683800-195696400	Weak transcription	Fetal Brain Male	brain
38	chr3:195684000-195689800	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:195684000-195690200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:195684200-195711800	Strong transcription	Placenta	Placenta
41	chr3:195684600-195691600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:195685400-195690200	Strong transcription	Fetal Brain Female	brain
43	chr3:195685400-195698800	Strong transcription	Dnd41	blood
44	chr3:195685600-195690200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:195685600-195690200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:195685600-195690400	Strong transcription	Lung	lung
47	chr3:195685800-195691600	Weak transcription	Brain Anterior Caudate	brain
48	chr3:195685800-195716600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:195686000-195689400	Weak transcription	Adipose Nuclei	Adipose
50	chr3:195686000-195690800	Weak transcription	Brain Substantia Nigra	brain

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