Variant report

Variant	esv3405013
Chromosome Location	chr3:144433866-144790801
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57915602..57917175-chr3:144590295..144592876,2	MCF-7	breast:
2	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
3	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:
4	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
5	chr3:143689621..143691420-chr3:144483860..144486695,2	MCF-7	breast:
6	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
7	chr3:144459658..144462426-chr3:144481491..144483613,2	K562	blood:
8	chr3:144406468..144407248-chr3:144489335..144490305,3	MCF-7	breast:
9	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:
10	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
11	chr3:143689459..143691462-chr3:144489230..144491259,2	MCF-7	breast:
12	chr3:143689984..143692553-chr3:144495205..144498104,2	MCF-7	breast:
13	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
14	chr12:57751005..57751961-chr3:144675108..144675976,2	MCF-7	breast:
15	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
16	chr3:143690596..143692811-chr3:144488722..144490239,2	MCF-7	breast:
17	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
18	chr3:144561413..144562304-chr3:145485449..145486072,2	MCF-7	breast:
19	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
20	chr3:144418657..144420552-chr3:144431065..144433967,2	MCF-7	breast:
21	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
22	chr3:144459658..144462426-chr3:144481491..144483613,2	K562	blood:
23	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:
24	chr3:143694539..143695086-chr3:144489593..144490285,2	MCF-7	breast:
25	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
26	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 5548 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5548 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556080002	chr3:144442809-144442810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574305446	chr3:144442832-144442833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78661698	chr3:144442842-144442843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559499446	chr3:144442912-144442913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532924726	chr3:144442943-144442944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372405177	chr3:144442972-144442973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545082204	chr3:144443058-144443059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574223742	chr3:144443065-144443066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186768026	chr3:144443069-144443070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530508411	chr3:144443076-144443077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74388655	chr3:144443092-144443093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567197834	chr3:144443128-144443129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189735871	chr3:144443130-144443131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375872780	chr3:144443184-144443185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533045087	chr3:144461402-144461403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544849448	chr3:144461448-144461449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150478539	chr3:144461469-144461470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115222233	chr3:144461506-144461507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73008053	chr3:144461524-144461525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568463814	chr3:144461575-144461576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73008055	chr3:144461614-144461615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548119150	chr3:144461625-144461626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373969286	chr3:144461626-144461627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184666341	chr3:144461676-144461677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77273373	chr3:144461691-144461692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149243791	chr3:144461739-144461740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570137319	chr3:144461744-144461745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537166930	chr3:144461745-144461746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555143960	chr3:144461748-144461749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189502580	chr3:144461757-144461758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78017761	chr3:144461809-144461810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77485192	chr3:144461810-144461811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144495807	chr3:144461822-144461823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567693380	chr3:144461834-144461835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577542421	chr3:144461882-144461883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544886206	chr3:144461894-144461895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181368310	chr3:144461899-144461900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575316521	chr3:144461910-144461911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543900806	chr3:144461986-144461987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562001635	chr3:144462079-144462080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529397424	chr3:144462095-144462096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541666190	chr3:144462098-144462099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139519649	chr3:144462104-144462105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377536774	chr3:144462105-144462106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73008056	chr3:144462107-144462108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73157531	chr3:144462139-144462140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111315236	chr3:144462144-144462145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572043293	chr3:144462147-144462148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373007609	chr3:144462174-144462175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545670375	chr3:144462229-144462230	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Basal cell lymphoma	21115979	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144442800-144443200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:144461400-144463000	Enhancers	Fetal Intestine Small	intestine
3	chr3:144461400-144463400	Enhancers	Fetal Intestine Large	intestine
4	chr3:144461400-144463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:144461600-144463400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:144461600-144463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:144462800-144463800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:144463000-144466000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:144463400-144465600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:144465200-144466200	Enhancers	Brain Hippocampus Middle	brain
11	chr3:144465400-144465600	Enhancers	Brain Substantia Nigra	brain
12	chr3:144465400-144466400	Enhancers	Brain Angular Gyrus	brain
13	chr3:144465400-144466400	Enhancers	Brain Anterior Caudate	brain
14	chr3:144465400-144466400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:144465600-144465800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr3:144465600-144466000	Active TSS	Brain Cingulate Gyrus	brain
17	chr3:144465600-144466200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:144465600-144466200	Enhancers	Adipose Nuclei	Adipose
19	chr3:144465600-144466200	Enhancers	Fetal Intestine Large	intestine
20	chr3:144465800-144467000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:144465800-144467000	Enhancers	Brain Substantia Nigra	brain
22	chr3:144466000-144466200	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr3:144466000-144466400	Enhancers	Ovary	ovary
24	chr3:144466000-144466800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:144466000-144467600	Enhancers	Fetal Intestine Small	intestine
26	chr3:144466200-144467000	Weak transcription	Fetal Intestine Large	intestine
27	chr3:144466200-144467000	Enhancers	Fetal Lung	lung
28	chr3:144466200-144467200	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:144466400-144467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:144466800-144467200	Enhancers	Fetal Brain Male	brain
31	chr3:144467000-144467200	Enhancers	Fetal Intestine Large	intestine
32	chr3:144467400-144467800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:144467800-144469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:144469600-144469800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:144469800-144475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:144470000-144471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:144470000-144471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:144470000-144471600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:144470200-144471400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:144470400-144471400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:144472800-144473200	Enhancers	HSMM	muscle
42	chr3:144472800-144474200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:144473000-144473600	Enhancers	Gastric	stomach
44	chr3:144473200-144474000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:144473600-144475600	Weak transcription	Gastric	stomach
46	chr3:144475600-144476000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:144475600-144476000	ZNF genes & repeats	Gastric	stomach
48	chr3:144476000-144476400	Weak transcription	Gastric	stomach
49	chr3:144476400-144482800	Weak transcription	Aorta	Aorta
50	chr3:144479200-144480000	Enhancers	Fetal Heart	heart

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