Variant report

Variant	nsv432486
Chromosome Location	chr3:139924092-140049121
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:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:139965802..139967783-chr3:139969852..139972671,2	MCF-7	breast:
2	chr3:140022731..140026345-chr3:140027266..140029721,3	MCF-7	breast:
3	chr3:139969847..139972662-chr3:139985088..139987480,2	K562	blood:
4	chr3:140009863..140012696-chr3:140014385..140017496,3	K562	blood:
5	chr3:139980889..139983190-chr3:139984246..139986183,2	MCF-7	breast:
6	chr3:140004703..140007058-chr3:140009329..140011674,2	MCF-7	breast:
7	chr3:139980980..139982947-chr3:139988620..139990291,2	K562	blood:
8	chr3:139969847..139972662-chr3:139985088..139987480,2	K562	blood:
9	chr17:41399109..41402008-chr3:140047432..140050412,2	MCF-7	breast:
10	chr3:140048554..140050507-chr3:140068162..140070278,2	MCF-7	breast:
11	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:
12	chr21:45665131..45666965-chr3:139933068..139935333,2	MCF-7	breast:
13	chr3:139963954..139966066-chr3:139966638..139968351,2	MCF-7	breast:
14	chr3:140035247..140037628-chr3:140039267..140042194,2	K562	blood:
15	chr3:139847140..139848104-chr3:139925061..139926084,5	MCF-7	breast:
16	chr3:139965201..139967010-chr3:139990337..139992942,2	MCF-7	breast:
17	chr3:139980980..139982947-chr3:139988620..139990291,2	K562	blood:
18	chr3:139973735..139976098-chr3:139987936..139989908,2	K562	blood:
19	chr3:139975949..139977666-chr3:139982168..139985039,2	MCF-7	breast:
20	chr3:139847304..139848053-chr3:139938391..139939118,2	MCF-7	breast:
21	chr3:140009863..140012696-chr3:140014385..140017496,3	K562	blood:
22	chr3:140010384..140011884-chr3:140017839..140020263,2	MCF-7	breast:
23	chr3:139936684..139939530-chr3:139941057..139942593,2	MCF-7	breast:
24	chr3:139985294..139989044-chr3:139992240..139995969,3	K562	blood:
25	chr3:139963954..139966066-chr3:139966638..139968351,2	MCF-7	breast:
26	chr3:139991297..139993647-chr3:139995026..139996887,3	K562	blood:
27	chr3:139847064..139848119-chr3:139934734..139936056,6	MCF-7	breast:
28	chr3:139873836..139876088-chr3:139924820..139926780,2	MCF-7	breast:
29	chr3:139966856..139969522-chr3:139972247..139974202,2	K562	blood:
30	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:
31	chr3:139973735..139976098-chr3:139987936..139989908,2	K562	blood:
32	chr3:140009863..140011937-chr3:140014588..140017496,2	K562	blood:
33	chr3:139985294..139989044-chr3:139992240..139995969,3	K562	blood:
34	chr3:139975949..139977666-chr3:139982168..139985039,2	MCF-7	breast:
35	chr3:140004703..140007058-chr3:140009329..140011674,2	MCF-7	breast:
36	chr3:139811749..139812473-chr3:139934801..139935433,2	MCF-7	breast:
37	chr3:139812354..139813315-chr3:139925264..139926151,2	MCF-7	breast:
38	chr3:139811764..139812310-chr3:139934838..139935561,2	MCF-7	breast:
39	chr3:140009863..140011937-chr3:140014588..140017496,2	K562	blood:
40	chr3:139936684..139939530-chr3:139941057..139942593,2	MCF-7	breast:
41	chr3:139995231..139996152-chr3:140217882..140218446,3	MCF-7	breast:
42	chr3:139991297..139993647-chr3:139995026..139996887,3	K562	blood:
43	chr3:139980889..139983190-chr3:139984246..139986183,2	MCF-7	breast:
44	chr3:140010384..140011884-chr3:140017839..140020263,2	MCF-7	breast:
45	chr17:41380303..41382086-chr3:140048912..140050412,2	K562	blood:
46	chr3:140022731..140026345-chr3:140027266..140029721,3	MCF-7	breast:
47	chr3:139965201..139967010-chr3:139990337..139992942,2	MCF-7	breast:
48	chr3:139995393..139996114-chr3:140217863..140218578,2	MCF-7	breast:
49	chr3:139970372..139972823-chr3:139975471..139977910,2	MCF-7	breast:
50	chr3:139966856..139969522-chr3:139972247..139974202,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT3-8	chr3:140036153-140036530	expReg_chr3_10285_-

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 4888 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:4888 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4683811	chr3:139924092-139924093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537863044	chr3:139924093-139924094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114185957	chr3:139924118-139924119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183866092	chr3:139924164-139924165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551976012	chr3:139924181-139924182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548630722	chr3:139924217-139924218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564008351	chr3:139924223-139924224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531520187	chr3:139924225-139924226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11718756	chr3:139924239-139924240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145012470	chr3:139924248-139924249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75968876	chr3:139924278-139924279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149073211	chr3:139924331-139924332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74890643	chr3:139924381-139924382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372703509	chr3:139924404-139924405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115933221	chr3:139924412-139924413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11718844	chr3:139924453-139924454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200923291	chr3:139924460-139924461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58835697	chr3:139924464-139924465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59611009	chr3:139924467-139924468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374441703	chr3:139924471-139924472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11718849	chr3:139924489-139924490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192864244	chr3:139924517-139924518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3792580	chr3:139924522-139924523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561478112	chr3:139924524-139924525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541502595	chr3:139924588-139924589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559788731	chr3:139924636-139924637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571827116	chr3:139924666-139924667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185477727	chr3:139924706-139924707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564132669	chr3:139924707-139924708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190353268	chr3:139924741-139924742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551403059	chr3:139924761-139924762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143083447	chr3:139924873-139924874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562094992	chr3:139924876-139924877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62266217	chr3:139924906-139924907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148217355	chr3:139924914-139924915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113608545	chr3:139924935-139924936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182226537	chr3:139925064-139925065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146924675	chr3:139925066-139925067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139382905	chr3:139925086-139925087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563345870	chr3:139925097-139925098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537735258	chr3:139925106-139925107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555814939	chr3:139925107-139925108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574298520	chr3:139925166-139925167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535049678	chr3:139925201-139925202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553362554	chr3:139925212-139925213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540084321	chr3:139925238-139925239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571763748	chr3:139925244-139925245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545543565	chr3:139925247-139925248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143342082	chr3:139925305-139925306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147102765	chr3:139925338-139925339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139921600-139925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:139921600-139926000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:139921600-139926200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:139921800-139925400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:139922000-139926000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:139922400-139925400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:139922600-139924200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:139923200-139926400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:139923400-139924600	Weak transcription	Fetal Brain Female	brain
10	chr3:139923600-139925400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:139923800-139924800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:139923800-139925800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:139923800-139926000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:139924000-139925200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:139924000-139925200	Enhancers	Ovary	ovary
16	chr3:139924000-139926000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:139924200-139925600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:139924600-139924800	Enhancers	Fetal Brain Female	brain
19	chr3:139924600-139925200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:139924800-139927200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:139925600-139926000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:139925800-139926200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:139926000-139926200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:139926000-139931000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:139926200-139927600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:139926400-139928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:139927200-139930800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:139927600-139928800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:139928400-139928600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:139930000-139930200	Enhancers	HSMMtube	muscle
31	chr3:139930200-139942000	Weak transcription	HSMMtube	muscle
32	chr3:139930800-139931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:139931000-139931600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:139931400-139934400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:139934400-139935800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:139935800-139936600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:139936600-139936800	Bivalent Enhancer	Osteobl	bone
38	chr3:139936600-139937400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:139936600-139938800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:139936800-139938600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:139937600-139938000	Enhancers	Fetal Kidney	kidney
42	chr3:139937800-139938600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:139938400-139938600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:139938400-139938600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:139938600-139944000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:139938600-139953600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:139938800-139939400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:139941800-139942600	Enhancers	HSMM	muscle
49	chr3:139941800-139942600	Enhancers	NH-A	brain
50	chr3:139941800-139943000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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