Variant report

Variant	nsv1005444
Chromosome Location	chr3:89803641-90030755
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89892604..89895274-chr3:89895825..89897588,2	MCF-7	breast:
2	chr3:89822370..89825211-chr3:89833148..89835430,2	MCF-7	breast:
3	chr3:88690038..88690583-chr3:89901209..89901840,2	MCF-7	breast:
4	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:
5	chr3:89892604..89895274-chr3:89895825..89897588,2	MCF-7	breast:
6	chr3:88252675..88253298-chr3:89900974..89901665,3	MCF-7	breast:
7	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
8	chr3:89858428..89860418-chr3:89862912..89865718,2	MCF-7	breast:
9	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
10	chr3:89829884..89832447-chr3:89837199..89839743,2	K562	blood:
11	chr3:89996596..89997810-chr3:90140377..90141392,6	MCF-7	breast:
12	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:
13	chr3:89611023..89612234-chr3:89900845..89901820,5	MCF-7	breast:
14	chr3:89829884..89832447-chr3:89837199..89839743,2	K562	blood:
15	chr3:89858428..89860418-chr3:89862912..89865718,2	MCF-7	breast:
16	chr3:89900833..89901811-chr3:90140473..90141334,4	MCF-7	breast:
17	chr3:89996325..89997175-chr3:90140367..90141418,4	MCF-7	breast:
18	chr3:89822370..89825211-chr3:89833148..89835430,2	MCF-7	breast:
19	chr3:89163095..89164119-chr3:89900902..89901799,5	MCF-7	breast:
20	chr3:89147543..89148341-chr3:89900953..89901507,2	MCF-7	breast:
21	chr3:89996606..89997218-chr3:90142348..90142978,2	MCF-7	breast:

No data

Extended variants
information (count: 5879 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:5879 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372925175	chr3:89808504-89808505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376502177	chr3:89808515-89808516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534481339	chr3:89808517-89808518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180889945	chr3:89808540-89808541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571235182	chr3:89808580-89808581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538762957	chr3:89808664-89808665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187384487	chr3:89808686-89808687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574942384	chr3:89808708-89808709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192125659	chr3:89808724-89808725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555600555	chr3:89808752-89808753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574876179	chr3:89808855-89808856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114904606	chr3:89808912-89808913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150901106	chr3:89808972-89808973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559930616	chr3:89809013-89809014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568370401	chr3:89809106-89809107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545530181	chr3:89809127-89809128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181560642	chr3:89809129-89809130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139426783	chr3:89809141-89809142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549412174	chr3:89809142-89809143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561136127	chr3:89809151-89809152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528417471	chr3:89809184-89809185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563566728	chr3:89809212-89809213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567472804	chr3:89809232-89809233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373842362	chr3:89809266-89809267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145687786	chr3:89809268-89809269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367725084	chr3:89809273-89809274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371248240	chr3:89809280-89809281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376777326	chr3:89809286-89809287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369790855	chr3:89809297-89809298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571462125	chr3:89809309-89809310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185755176	chr3:89809327-89809328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9813116	chr3:89809333-89809334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75646234	chr3:89809353-89809354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550215314	chr3:89809412-89809413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568621816	chr3:89809429-89809430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147656157	chr3:89809438-89809439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535811705	chr3:89809439-89809440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569148568	chr3:89809449-89809450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373341556	chr3:89809500-89809501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574235699	chr3:89809509-89809510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546102691	chr3:89809510-89809511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190159306	chr3:89809579-89809580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7632730	chr3:89809597-89809598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs578087223	chr3:89809618-89809619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376612083	chr3:89809697-89809698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545625612	chr3:89809800-89809801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115973858	chr3:89809821-89809822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575827744	chr3:89809855-89809856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144715820	chr3:89809907-89809908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147913737	chr3:89809910-89809911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89808400-89811200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:89809600-89815800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:89811200-89811400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:89811600-89812200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89813000-89813600	Enhancers	Fetal Lung	lung
6	chr3:89814400-89814600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:89814400-89814800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:89814400-89815400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:89814600-89815000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:89814600-89815400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:89814600-89815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:89814600-89832600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:89815800-89816000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:89817000-89817400	Weak transcription	Fetal Lung	lung
15	chr3:89817400-89817600	ZNF genes & repeats	Fetal Lung	lung
16	chr3:89820600-89821000	Enhancers	Adipose Nuclei	Adipose
17	chr3:89832600-89833000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:89839400-89840200	Enhancers	Stomach Mucosa	stomach
19	chr3:89843600-89843800	Enhancers	Duodenum Mucosa	Duodenum
20	chr3:89843800-89844000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr3:89844000-89844400	Active TSS	Duodenum Mucosa	Duodenum
22	chr3:89844000-89845200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:89844400-89844600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr3:89844600-89845400	Enhancers	Duodenum Mucosa	Duodenum
25	chr3:89844800-89845200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:89844800-89845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:89844800-89845200	Enhancers	Fetal Heart	heart
28	chr3:89852800-89853200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:89852800-89853800	Enhancers	Adipose Nuclei	Adipose
30	chr3:89853200-89858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:89854000-89854200	Enhancers	Brain Germinal Matrix	brain
32	chr3:89855200-89856400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:89855400-89855600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:89855400-89855800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:89855400-89855800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:89855600-89855800	Enhancers	Brain Germinal Matrix	brain
37	chr3:89855600-89856200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:89855600-89856200	Enhancers	Fetal Lung	lung
39	chr3:89855600-89857200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:89855800-89856200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:89855800-89856400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:89855800-89856800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:89856000-89856400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr3:89856200-89857400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:89856800-89857000	Enhancers	Brain Germinal Matrix	brain
46	chr3:89857200-89858000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr3:89857600-89858000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:89858000-89858400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:89858200-89859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:89858400-89859000	Enhancers	Primary neutrophils fromperipheralblood	blood

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