Variant report

Variant	nsv877550
Chromosome Location	chr3:140867094-140933231
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:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:140933212..140935846-chr3:140940182..140941703,2	MCF-7	breast:
2	chr3:140901647..140903413-chr3:140903803..140906538,2	K562	blood:
3	chr3:140910735..140911727-chr3:141170663..141171495,2	K562	blood:
4	chr3:140730111..140731019-chr3:140910769..140911416,5	K562	blood:
5	chr3:72495750..72496304-chr3:140903646..140904165,2	HCT-116	colon:
6	chr3:140868793..140870941-chr3:140893015..140895317,2	MCF-7	breast:
7	chr3:140910860..140911731-chr3:140997895..140998782,2	K562	blood:
8	chr3:140832996..140835828-chr3:140869146..140871657,2	MCF-7	breast:
9	chr3:140901647..140903413-chr3:140903803..140906538,2	K562	blood:
10	chr3:140930622..140932704-chr3:140935562..140938186,2	K562	blood:
11	chr3:140616851..140618321-chr3:140910804..140911746,7	K562	blood:
12	chr3:140862626..140865076-chr3:140865610..140868413,2	MCF-7	breast:
13	chr3:140641214..140642093-chr3:140910815..140911387,4	K562	blood:
14	chr3:140718217..140720012-chr3:140910812..140911779,16	MCF-7	breast:
15	chr3:140867484..140869090-chr3:140909634..140911456,2	K562	blood:
16	chr3:139847183..139848098-chr3:140910839..140911734,2	K562	blood:
17	chr20:9524757..9525257-chr3:140910988..140911568,2	MCF-7	breast:
18	chr3:140910927..140911916-chr3:140974455..140975357,4	MCF-7	breast:
19	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
20	chr3:140867484..140869090-chr3:140909634..140911456,2	K562	blood:
21	chr3:140717895..140719577-chr3:140910528..140912066,26	MCF-7	breast:
22	chr3:140911231..140911800-chr3:140998106..140998618,2	MCF-7	breast:
23	chr10:71561918..71562439-chr3:140910836..140911391,2	K562	blood:
24	chr3:140768713..140769273-chr3:140910536..140911423,2	MCF-7	breast:
25	chr3:140641240..140642122-chr3:140910840..140911783,2	MCF-7	breast:
26	chr3:140730037..140731014-chr3:140910554..140911830,26	MCF-7	breast:
27	chr3:140582774..140583595-chr3:140910775..140911453,2	K562	blood:
28	chr3:140616900..140617838-chr3:140910864..140911977,9	MCF-7	breast:
29	chr20:46012466..46013414-chr3:140910734..140911750,3	MCF-7	breast:
30	chr3:140730037..140730966-chr3:140911200..140912285,7	MCF-7	breast:
31	chr3:140932376..140934334-chr3:140934342..140935851,2	MCF-7	breast:
32	chr3:140718651..140719525-chr3:140910863..140911815,6	K562	blood:
33	chr3:140769329..140770294-chr3:140910775..140911651,5	MCF-7	breast:
34	chr3:140824451..140825371-chr3:140910899..140911704,4	MCF-7	breast:
35	chr1:185282053..185282744-chr3:140901180..140901776,2	Hela-S3	cervix:
36	chr3:140910870..140911682-chr3:140950195..140951399,3	MCF-7	breast:
37	chr3:140911179..140911719-chr3:141280024..141280597,2	K562	blood:
38	chr3:140868793..140870941-chr3:140893015..140895317,2	MCF-7	breast:
39	chr3:140621497..140624200-chr3:140874171..140875679,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACPL2-1	chr3:140930015-140930121	NONHSAT092415
2	lnc-ACPL2-1	chr3:140925377-140925484	NONHSAT092415

No data

Variant related genes	Relation type
ENSG00000175093	chromatin interactions
ENSG00000163602	chromatin interactions
ENSG00000155893	chromatin interactions
ENSG00000197467	chromatin interactions

Extended variants
information (count: 2392 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2392 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2291042	chr3:140867094-140867095	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371563087	chr3:140867111-140867112	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369602719	chr3:140867159-140867160	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570690648	chr3:140867176-140867177	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201957608	chr3:140867248-140867249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138163702	chr3:140867251-140867252	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561400953	chr3:140867254-140867255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139256208	chr3:140867259-140867260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535518514	chr3:140867288-140867289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144235641	chr3:140867309-140867310	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533090248	chr3:140867315-140867316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572082010	chr3:140867335-140867336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146574030	chr3:140867377-140867378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558405423	chr3:140867389-140867390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576708617	chr3:140867422-140867423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188624018	chr3:140867427-140867428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562222140	chr3:140867430-140867431	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574286746	chr3:140867459-140867460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541919294	chr3:140867513-140867514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560304680	chr3:140867585-140867586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73234877	chr3:140867616-140867617	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545510186	chr3:140867627-140867628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564404119	chr3:140867665-140867666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531549759	chr3:140867671-140867672	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191530562	chr3:140867701-140867702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567870075	chr3:140867723-140867724	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141315376	chr3:140867797-140867798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547454303	chr3:140867825-140867826	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566065520	chr3:140867925-140867926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs875870	chr3:140867938-140867939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145096762	chr3:140867974-140867975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570039457	chr3:140867975-140867976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9835509	chr3:140868001-140868002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555255189	chr3:140868022-140868023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555259813	chr3:140868026-140868027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556116593	chr3:140868032-140868033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376198991	chr3:140868059-140868060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574250436	chr3:140868067-140868068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370240150	chr3:140868071-140868072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552578491	chr3:140868105-140868106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553881089	chr3:140868106-140868107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572093129	chr3:140868178-140868179	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9855600	chr3:140868226-140868227	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78707480	chr3:140868227-140868228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531342802	chr3:140868228-140868229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543287144	chr3:140868260-140868261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561666283	chr3:140868277-140868278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529030375	chr3:140868281-140868282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547234721	chr3:140868293-140868294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566154091	chr3:140868314-140868315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140847200-140869000	Weak transcription	Right Ventricle	heart
2	chr3:140861000-140880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:140862600-140868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:140863000-140870600	Weak transcription	Fetal Lung	lung
5	chr3:140863600-140867400	Weak transcription	Fetal Heart	heart
6	chr3:140863800-140871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:140863800-140872200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:140864600-140870600	Weak transcription	Right Atrium	heart
9	chr3:140864600-140873200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:140865800-140868000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:140865800-140869200	Strong transcription	Fetal Muscle Leg	muscle
12	chr3:140865800-140870200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:140866000-140868000	Strong transcription	Fetal Stomach	stomach
14	chr3:140866000-140869000	Enhancers	Pancreas	Pancrea
15	chr3:140866200-140867400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:140866400-140867200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:140866400-140867200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:140866400-140867200	Flanking Active TSS	HepG2	liver
19	chr3:140866600-140867200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:140866600-140868800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:140866800-140868400	Weak transcription	Dnd41	blood
22	chr3:140866800-140869400	Weak transcription	Brain Germinal Matrix	brain
23	chr3:140866800-140876600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:140867000-140869400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:140867000-140871400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:140867000-140871400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr3:140867200-140868800	Enhancers	HepG2	liver
28	chr3:140867200-140872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:140867200-140872000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:140867200-140872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:140867400-140869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:140867400-140873000	Enhancers	Fetal Heart	heart
33	chr3:140867800-140868600	Enhancers	Spleen	Spleen
34	chr3:140868000-140868600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:140868000-140869400	Weak transcription	Fetal Stomach	stomach
36	chr3:140868400-140868600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:140868400-140868600	Enhancers	Dnd41	blood
38	chr3:140868600-140872200	Enhancers	Fetal Muscle Trunk	muscle
39	chr3:140868800-140869400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:140869000-140869600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:140869000-140871600	Weak transcription	Pancreas	Pancrea
42	chr3:140869000-140872200	Enhancers	Right Ventricle	heart
43	chr3:140869200-140869400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr3:140869200-140869400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:140869400-140869600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:140869400-140869600	Enhancers	Brain Germinal Matrix	brain
47	chr3:140869400-140869600	Enhancers	Left Ventricle	heart
48	chr3:140869400-140870000	Enhancers	Fetal Brain Female	brain
49	chr3:140869400-140870400	Enhancers	Fetal Muscle Leg	muscle
50	chr3:140869400-140870800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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