Variant report

Variant	esv3329288
Chromosome Location	chr3:88036062-88038010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:88037114-88037548	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr3:88037089-88037354	K562	blood:	n/a	n/a
3	JUND	chr3:88037133-88037448	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr3:88036492-88036692	HepG2	liver:	n/a	n/a
5	MAFF	chr3:88037113-88037540	K562	blood:	n/a	n/a
6	MAFK	chr3:88037176-88037376	HepG2	liver:	n/a	n/a
7	MAFK	chr3:88037086-88037569	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr3:88037111-88037448	K562	blood:	n/a	n/a
9	POLR2A	chr3:88037176-88037286	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:88036446-88036698	K562	blood:	n/a	n/a
11	POLR2A	chr3:88037080-88037851	K562	blood:	n/a	n/a
12	RCOR1	chr3:88037134-88037434	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:88037234..88038960-chr3:88040790..88043592,2	K562	blood:

No data

Variant related genes	Relation type
HTR1F	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576911427	chr3:88036092-88036093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544327967	chr3:88036105-88036106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556262627	chr3:88036113-88036114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148233738	chr3:88036114-88036115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542215474	chr3:88036124-88036125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116197764	chr3:88036126-88036127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528035639	chr3:88036174-88036175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546070974	chr3:88036205-88036206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564701460	chr3:88036217-88036218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150169103	chr3:88036270-88036271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200840281	chr3:88036278-88036279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368476039	chr3:88036279-88036280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374388808	chr3:88036286-88036287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115167710	chr3:88036369-88036370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142439093	chr3:88036488-88036489	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569768088	chr3:88036504-88036505	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549871773	chr3:88036517-88036518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568172392	chr3:88036518-88036519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373804540	chr3:88036523-88036524	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371240178	chr3:88036614-88036615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183816034	chr3:88036624-88036625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs13082912	chr3:88036686-88036687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571538514	chr3:88036718-88036719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10662382	chr3:88036765-88036766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66867140	chr3:88036766-88036767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67581442	chr3:88036775-88036776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539755615	chr3:88036779-88036780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7616002	chr3:88036781-88036782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10575272	chr3:88036793-88036794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145796240	chr3:88036794-88036795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542143647	chr3:88036805-88036806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7618448	chr3:88036807-88036808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13083214	chr3:88036814-88036815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111523075	chr3:88036817-88036818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7616080	chr3:88036831-88036832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7618454	chr3:88036834-88036835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368595743	chr3:88036865-88036866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200561062	chr3:88036866-88036867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201915014	chr3:88036868-88036869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13063448	chr3:88036871-88036872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9830921	chr3:88036879-88036880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13063462	chr3:88036893-88036894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13063627	chr3:88036943-88036944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557508542	chr3:88036945-88036946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200946969	chr3:88036947-88036948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368275109	chr3:88036959-88036960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569486936	chr3:88036969-88036970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13063650	chr3:88036978-88036979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536864664	chr3:88036980-88036981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201057147	chr3:88036997-88036998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88020600-88037000	Weak transcription	K562	blood
2	chr3:88029600-88039800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:88030200-88045400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:88033400-88037000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:88035400-88037000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:88037000-88037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:88037000-88037400	Enhancers	K562	blood
8	chr3:88037000-88037600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:88037000-88037600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:88037000-88037600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:88037000-88037600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:88037000-88037600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:88037000-88037800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:88037200-88037400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:88037200-88037600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:88037200-88037600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:88037200-88037600	Enhancers	A549	lung
18	chr3:88037400-88040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:88037600-88039000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:88037600-88039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:88037600-88039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:88037600-88039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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