Variant report

Variant	nsv834766
Chromosome Location	chr3:94232527-94365784
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94243814..94244533-chr3:94435293..94436192,2	MCF-7	breast:
2	chr3:94241478..94242035-chr3:94435189..94435701,2	MCF-7	breast:
3	chr3:94234089..94235748-chr3:94240926..94242473,2	K562	blood:
4	chr3:94241271..94241943-chr3:96531718..96532443,2	MCF-7	breast:
5	chr3:94315816..94317592-chr3:94319711..94321977,2	MCF-7	breast:
6	chr3:94315816..94317592-chr3:94319711..94321977,2	MCF-7	breast:
7	chr3:94323046..94325377-chr3:94325729..94327988,2	MCF-7	breast:
8	chr3:94234089..94235748-chr3:94240926..94242473,2	K562	blood:
9	chr3:94332237..94332757-chr8:43096232..43096752,2	MCF-7	breast:
10	chr3:94250114..94250962-chr9:103426436..103427170,2	MCF-7	breast:
11	chr3:94323046..94325377-chr3:94325729..94327988,2	MCF-7	breast:
12	chr3:94054837..94055425-chr3:94267883..94268644,2	MCF-7	breast:
13	chr3:94304698..94306954-chrX:153236352..153238448,2	MCF-7	breast:
14	chr3:94210684..94213221-chr3:94300303..94302225,2	MCF-7	breast:
15	chr3:94230429..94232001-chr3:94239540..94242079,2	K562	blood:
16	chr3:94333086..94335748-chr3:94343462..94345295,2	MCF-7	breast:
17	chr3:94234089..94235748-chr3:94240268..94242473,3	K562	blood:
18	chr3:94243618..94244324-chr3:94435214..94436130,5	MCF-7	breast:
19	chr3:94234089..94235748-chr3:94240268..94242473,3	K562	blood:
20	chr3:94333086..94335748-chr3:94343462..94345295,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177854	chromatin interactions
ENSG00000172534	chromatin interactions

Extended variants
information (count: 2055 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2055 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542871173	chr3:94232541-94232542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6773384	chr3:94232567-94232568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572662617	chr3:94232568-94232569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544794635	chr3:94232577-94232578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368363406	chr3:94232608-94232609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568910222	chr3:94232618-94232619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188007863	chr3:94232648-94232649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530893325	chr3:94232687-94232688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192285310	chr3:94232712-94232713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539436961	chr3:94232731-94232732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561304105	chr3:94232735-94232736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149250321	chr3:94232778-94232779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185881948	chr3:94232792-94232793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551348946	chr3:94232810-94232811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1463688	chr3:94232845-94232846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73846406	chr3:94232874-94232875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552801206	chr3:94232894-94232895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147361783	chr3:94232895-94232896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533851268	chr3:94232927-94232928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537133822	chr3:94232933-94232934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556696351	chr3:94232937-94232938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573534809	chr3:94232950-94232951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190407003	chr3:94232971-94232972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555294559	chr3:94233095-94233096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534145191	chr3:94233134-94233135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80202003	chr3:94233189-94233190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201372837	chr3:94233261-94233262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572797896	chr3:94233273-94233274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139446129	chr3:94233276-94233277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192394106	chr3:94233342-94233343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184606238	chr3:94233375-94233376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73846407	chr3:94233391-94233392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561126663	chr3:94233434-94233435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530060858	chr3:94233439-94233440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546665391	chr3:94233489-94233490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553449411	chr3:94233508-94233509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78371717	chr3:94233509-94233510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147154886	chr3:94233579-94233580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148562472	chr3:94233587-94233588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552838124	chr3:94233596-94233597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374363666	chr3:94233597-94233598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556032279	chr3:94233631-94233632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188948788	chr3:94233663-94233664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368617115	chr3:94233669-94233670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551170390	chr3:94233679-94233680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550611160	chr3:94233723-94233724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567241963	chr3:94233735-94233736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142906226	chr3:94233752-94233753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73168746	chr3:94233764-94233765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181358226	chr3:94233767-94233768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Oral cancer	21386901	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94232400-94234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:94232600-94233400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:94233000-94233400	Enhancers	Brain Anterior Caudate	brain
4	chr3:94234800-94235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:94234800-94235400	Enhancers	Fetal Lung	lung
6	chr3:94235400-94239200	Weak transcription	Fetal Lung	lung
7	chr3:94239000-94240200	Enhancers	Fetal Heart	heart
8	chr3:94239200-94239600	Enhancers	Fetal Brain Female	brain
9	chr3:94239200-94239600	Enhancers	Fetal Lung	lung
10	chr3:94239600-94240000	Weak transcription	Fetal Brain Female	brain
11	chr3:94239600-94242400	Weak transcription	Fetal Lung	lung
12	chr3:94240000-94240200	Enhancers	Fetal Brain Female	brain
13	chr3:94240200-94242800	Weak transcription	Fetal Heart	heart
14	chr3:94240200-94244000	Weak transcription	Fetal Brain Female	brain
15	chr3:94241800-94242800	Enhancers	Liver	Liver
16	chr3:94242200-94243800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:94242400-94243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:94242400-94243000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:94242400-94243000	Enhancers	HepG2	liver
20	chr3:94242400-94243200	Enhancers	Ovary	ovary
21	chr3:94242400-94244600	Enhancers	Fetal Lung	lung
22	chr3:94242600-94243200	Enhancers	Pancreas	Pancrea
23	chr3:94242600-94243200	Enhancers	Right Ventricle	heart
24	chr3:94242600-94243800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:94242600-94244000	Enhancers	Fetal Intestine Small	intestine
26	chr3:94242600-94244000	Enhancers	Fetal Stomach	stomach
27	chr3:94242600-94244200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:94242600-94244800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:94242800-94243200	Enhancers	Esophagus	oesophagus
30	chr3:94242800-94243200	Enhancers	Gastric	stomach
31	chr3:94242800-94243200	Enhancers	Left Ventricle	heart
32	chr3:94242800-94243400	Enhancers	Brain Hippocampus Middle	brain
33	chr3:94242800-94244400	Flanking Active TSS	Liver	Liver
34	chr3:94242800-94244600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:94242800-94244600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:94242800-94244600	Enhancers	Fetal Heart	heart
37	chr3:94242800-94245000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:94242800-94245000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:94243000-94243200	Flanking Active TSS	HepG2	liver
40	chr3:94243000-94243400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:94243000-94243400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:94243000-94243400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr3:94243000-94243800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:94243000-94244200	Enhancers	Stomach Mucosa	stomach
45	chr3:94243000-94244200	Enhancers	Stomach Smooth Muscle	stomach
46	chr3:94243000-94244400	Enhancers	Fetal Intestine Large	intestine
47	chr3:94243000-94245400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:94243200-94243600	Enhancers	A549	lung
49	chr3:94243200-94243600	Enhancers	HepG2	liver
50	chr3:94243200-94244000	Weak transcription	Ovary	ovary

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