Variant report

Variant	esv3442361
Chromosome Location	chr3:195666355-195675453
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195673861..195675995-chr5:278201..279705,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC20-9	chr3:195674996-195675559	NONHSAT094276
2	lnc-TNK2-2	chr3:195674206-195674576	NONHSAT094271
3	lnc-TFRC-1	chr3:195666277-195666553	NONHSAT094273
4	lnc-TFRC-1	chr3:195668449-195672581	NONHSAT094272
5	lnc-TNK2-2	chr3:195673684-195674350	NONHSAT094275
6	lnc-TFRC-1	chr3:195666274-195667064	NONHSAT094272

No data

Extended variants
information (count: 688 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6795456	chr3:195666374-195666375	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs6804780	chr3:195666387-195666388	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12489035	chr3:195666415-195666416	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554521293	chr3:195666419-195666420	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs573034077	chr3:195666428-195666429	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs373652887	chr3:195666430-195666431	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541339561	chr3:195666469-195666470	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs367792032	chr3:195666493-195666494	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs149623998	chr3:195666512-195666513	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559142063	chr3:195666519-195666520	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs552883654	chr3:195666526-195666527	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs199622921	chr3:195666529-195666530	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs4437183	chr3:195666530-195666531	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563643137	chr3:195666544-195666545	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs2620564	chr3:195666557-195666558	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62284405	chr3:195666561-195666562	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs62284406	chr3:195666596-195666597	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549029763	chr3:195666624-195666625	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541463501	chr3:195666629-195666630	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs6764284	chr3:195666636-195666637	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs528211752	chr3:195666648-195666649	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546691050	chr3:195666652-195666653	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs571752627	chr3:195666653-195666654	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs539184019	chr3:195666654-195666655	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377278136	chr3:195666677-195666678	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs376424889	chr3:195666701-195666702	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs550889829	chr3:195666716-195666717	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569560233	chr3:195666731-195666732	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs4927798	chr3:195666742-195666743	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
30	rs180692703	chr3:195666783-195666784	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371860968	chr3:195666797-195666798	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575187527	chr3:195666831-195666832	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373972399	chr3:195666843-195666844	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs146874381	chr3:195666873-195666874	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs139562432	chr3:195666898-195666899	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545576444	chr3:195666919-195666920	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370845615	chr3:195666922-195666923	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559896796	chr3:195666936-195666937	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs563320122	chr3:195666956-195666957	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113050284	chr3:195666977-195666978	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs151071871	chr3:195666980-195666981	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs77249025	chr3:195666995-195666996	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560889471	chr3:195667029-195667030	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs76748991	chr3:195667032-195667033	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs564141039	chr3:195667034-195667035	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs78232273	chr3:195667061-195667062	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs74622027	chr3:195667069-195667070	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113648303	chr3:195667073-195667074	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546728123	chr3:195667076-195667077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376509757	chr3:195667077-195667078	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195647200-195681200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:195648600-195666600	Weak transcription	Lung	lung
3	chr3:195648600-195666600	Weak transcription	Spleen	Spleen
4	chr3:195648600-195680600	Weak transcription	Pancreas	Pancrea
5	chr3:195648800-195666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:195648800-195666800	Weak transcription	Esophagus	oesophagus
7	chr3:195651200-195671200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:195651800-195673800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:195653000-195666800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:195656600-195681000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:195656800-195666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:195656800-195666600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:195656800-195669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:195656800-195671200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:195656800-195676400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:195656800-195679400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:195657000-195666800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:195657200-195666800	Weak transcription	Thymus	Thymus
19	chr3:195657400-195670000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:195657800-195681400	Weak transcription	GM12878-XiMat	blood
21	chr3:195658400-195666800	Weak transcription	Gastric	stomach
22	chr3:195658800-195666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:195659000-195667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:195659000-195676400	Weak transcription	Hela-S3	cervix
25	chr3:195659600-195666600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:195659600-195666800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:195659600-195681200	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:195659600-195685600	Weak transcription	Small Intestine	intestine
29	chr3:195660000-195666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:195660000-195666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:195660000-195666600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:195660000-195666600	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:195660000-195666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:195660000-195666800	Weak transcription	Brain Substantia Nigra	brain
35	chr3:195660000-195666800	Weak transcription	Fetal Intestine Large	intestine
36	chr3:195660000-195666800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:195660000-195669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:195660000-195681200	Weak transcription	Colonic Mucosa	Colon
39	chr3:195660200-195666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:195660400-195666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:195660400-195666800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:195660400-195666800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:195660400-195680600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:195660600-195666400	Weak transcription	Fetal Intestine Small	intestine
45	chr3:195660600-195666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:195660600-195669600	Weak transcription	A549	lung
47	chr3:195660600-195681200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:195660800-195666800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:195660800-195667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:195660800-195669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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