Variant report

Variant	nsv933680
Chromosome Location	chr3:142211643-142287189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:0)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:142261070-142261144	K562	blood:	n/a	n/a
2	BATF	chr3:142239093-142239336	GM12878	blood:	n/a	chr3:142239207-142239218
3	BATF	chr3:142239050-142239289	GM12878	blood:	n/a	chr3:142239207-142239218
4	CEBPB	chr3:142219797-142220572	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr3:142270599-142270681	A549	lung:	n/a	n/a
6	CEBPB	chr3:142263101-142263249	A549	lung:	n/a	n/a
7	CEBPB	chr3:142255430-142255764	HepG2	liver:	n/a	chr3:142255608-142255619
8	CEBPB	chr3:142260940-142261156	A549	lung:	n/a	n/a
9	CEBPB	chr3:142266636-142266815	Hela-S3	cervix:	n/a	chr3:142266692-142266703
10	CEBPB	chr3:142266608-142266769	HepG2	liver:	n/a	chr3:142266692-142266703
11	CEBPB	chr3:142260934-142261200	K562	blood:	n/a	n/a
12	CEBPB	chr3:142263197-142263341	K562	blood:	n/a	n/a
13	CEBPB	chr3:142255473-142255696	HepG2	liver:	n/a	chr3:142255608-142255619
14	CTCF	chr3:142273914-142274052	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:142273900-142274050	AG10803	skin:	n/a	n/a
16	CTCF	chr3:142273991-142274027	GM19240	blood:	n/a	n/a
17	CTCF	chr3:142274040-142274190	AG09319	gingival:	n/a	n/a
18	CTCF	chr3:142274000-142274150	HCM	heart:	n/a	n/a
19	CTCF	chr3:142283776-142283861	ProgFib	skin:	n/a	n/a
20	CTCF	chr3:142283693-142283722	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:142273949-142274042	GM12878	blood:	n/a	n/a
22	CTCF	chr3:142273930-142274054	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:142269080-142269230	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr3:142220556-142220695	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr3:142273930-142274050	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:142220460-142220610	HFF	foreskin:	n/a	n/a
27	CTCF	chr3:142273920-142274070	HMEC	breast:	n/a	n/a
28	CTCF	chr3:142273943-142274048	GM12892	blood:	n/a	n/a
29	CTCF	chr3:142273911-142274053	Gliobla	brain:	n/a	n/a
30	CTCF	chr3:142274000-142274150	BE2_C	brain:	n/a	n/a
31	CTCF	chr3:142273917-142274053	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:142273925-142274056	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:142273880-142274030	AG10803	skin:	n/a	n/a
34	CTCF	chr3:142273916-142274053	ProgFib	skin:	n/a	n/a
35	CTCF	chr3:142273950-142274046	A549	lung:	n/a	n/a
36	CTCF	chr3:142273959-142274038	GM19238	blood:	n/a	n/a
37	CTCF	chr3:142273920-142274070	BE2_C	brain:	n/a	n/a
38	CTCF	chr3:142273943-142274051	Fibrobl	skin:	n/a	n/a
39	CUX1	chr3:142216961-142217317	GM12878	blood:	n/a	n/a
40	E2F4	chr3:142251552-142251624	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr3:142216013-142216035	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr3:142274765-142274880	MCF10A-Er-Src	breast:	n/a	n/a
43	EGR1	chr3:142243852-142244018	K562	blood:	n/a	n/a
44	ELK1	chr3:142286019-142286056	GM12878	blood:	n/a	n/a
45	ELK4	chr3:142219785-142220043	Hela-S3	cervix:	n/a	n/a
46	EP300	chr3:142221407-142221820	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr3:142221456-142221717	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr3:142219697-142220720	SK-N-SH	brain:	n/a	chr3:142219976-142219983
49	EP300	chr3:142219707-142220519	Hela-S3	cervix:	n/a	chr3:142219976-142219983
50	EP300	chr3:142219877-142220510	SK-N-SH	brain:	n/a	chr3:142219976-142219983

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:142272099..142273857-chr3:142275368..142277918,2	K562	blood:
2	chr3:142284629..142286922-chr3:142296267..142299149,2	K562	blood:
3	chr3:142223421..142226102-chr3:142296726..142299495,3	MCF-7	breast:
4	chr3:142282794..142284400-chr3:142286449..142288968,2	K562	blood:
5	chr3:142280147..142283141-chr3:142285094..142287715,3	K562	blood:
6	chr3:142165873..142168025-chr3:142253453..142255156,2	MCF-7	breast:
7	chr3:142251000..142253225-chr3:142255307..142257885,2	MCF-7	breast:
8	chr1:21671785..21672442-chr3:142280767..142281658,2	NB4	blood:
9	chr3:142272067..142275350-chr3:142296306..142300271,3	K562	blood:
10	chr3:142260594..142262421-chr3:142262695..142264592,2	K562	blood:
11	chr3:142257943..142260120-chr3:142263398..142264989,2	K562	blood:
12	chr3:142219298..142222317-chr3:142296108..142299028,3	MCF-7	breast:
13	chr3:142248272..142250726-chr3:142251328..142253122,2	K562	blood:
14	chr3:142280626..142283157-chr3:142296079..142299039,3	K562	blood:
15	chr3:142232153..142234194-chr3:142243013..142245479,2	MCF-7	breast:
16	chr3:142205435..142207089-chr3:142209696..142212453,2	K562	blood:
17	chr3:142218732..142221047-chr3:142223220..142225180,2	K562	blood:
18	chr3:142232153..142234194-chr3:142243013..142245479,2	MCF-7	breast:
19	chr3:142267438..142270247-chr3:142280572..142282585,2	MCF-7	breast:
20	chr3:142221745..142223373-chr3:142285789..142288084,2	K562	blood:
21	chr3:142257943..142260120-chr3:142263398..142264989,2	K562	blood:
22	chr3:142246869..142249118-chr3:142259250..142261613,2	K562	blood:
23	chr3:142282794..142284400-chr3:142286449..142288968,2	K562	blood:
24	chr3:142272679..142274553-chr3:142297271..142300247,2	MCF-7	breast:
25	chr3:142272907..142275901-chr3:142280170..142282746,2	MCF-7	breast:
26	chr3:142284471..142287739-chr3:142296498..142299510,3	MCF-7	breast:
27	chr3:142248272..142250726-chr3:142251328..142253122,2	K562	blood:
28	chr3:142217637..142220232-chr3:142223220..142225683,2	K562	blood:
29	chr3:142229095..142231741-chr3:142253840..142256348,2	MCF-7	breast:
30	chr3:142246869..142249118-chr3:142259250..142261613,2	K562	blood:
31	chr3:142273455..142275768-chr3:142281419..142283017,2	K562	blood:
32	chr3:142262100..142263612-chr3:142267272..142269416,2	K562	blood:
33	chr3:142223658..142226531-chr3:142293631..142295358,2	K562	blood:
34	chr3:142229095..142231741-chr3:142253840..142256348,2	MCF-7	breast:
35	chr3:142262100..142263612-chr3:142267272..142269416,2	K562	blood:
36	chr3:142221679..142224091-chr3:142224480..142227084,2	K562	blood:
37	chr3:142217843..142219879-chr3:142296547..142298953,2	MCF-7	breast:
38	chr3:142221745..142223373-chr3:142285789..142288084,2	K562	blood:
39	chr3:142280626..142282527-chr3:142296623..142299039,2	K562	blood:
40	chr3:142260594..142262421-chr3:142262695..142264592,2	K562	blood:
41	chr3:142226820..142229052-chr3:142234427..142237247,3	K562	blood:
42	chr3:142273455..142275768-chr3:142281419..142283017,2	K562	blood:
43	chr3:142255246..142257071-chr3:142259760..142261943,2	K562	blood:
44	chr3:142210650..142212164-chr3:142212182..142213935,2	K562	blood:
45	chr3:142210650..142212164-chr3:142212182..142213935,2	K562	blood:
46	chr3:142255246..142257071-chr3:142259760..142261943,2	K562	blood:
47	chr3:142221679..142224091-chr3:142224480..142227084,2	K562	blood:
48	chr3:142251000..142253225-chr3:142255307..142257885,2	MCF-7	breast:
49	chr3:142226820..142229052-chr3:142234427..142237247,3	K562	blood:
50	chr3:142241940..142244885-chr3:142296326..142298965,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATR	TF binding region
ENSG00000117298	chromatin interactions
ENSG00000114127	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000242390	chromatin interactions

Extended variants
information (count: 2686 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2686 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181944714	chr3:142211643-142211644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554957292	chr3:142211644-142211645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372214122	chr3:142211647-142211648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186287913	chr3:142211693-142211694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535395473	chr3:142211790-142211791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534253642	chr3:142211859-142211860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553228547	chr3:142211866-142211867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375975311	chr3:142211941-142211942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577748793	chr3:142211948-142211949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34576460	chr3:142211985-142211986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145569221	chr3:142212029-142212030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148465901	chr3:142212030-142212031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374253623	chr3:142212033-142212034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150339560	chr3:142212065-142212066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150964938	chr3:142212121-142212122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182535875	chr3:142212138-142212139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371240239	chr3:142212153-142212154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538488507	chr3:142212161-142212162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35704885	chr3:142212166-142212167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377542315	chr3:142212173-142212174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138029986	chr3:142212175-142212176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370714932	chr3:142212176-142212177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113568341	chr3:142212222-142212223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77390595	chr3:142212249-142212250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36014417	chr3:142212267-142212268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572618001	chr3:142212292-142212293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113643607	chr3:142212300-142212301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565365866	chr3:142212323-142212324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191272174	chr3:142212331-142212332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146043525	chr3:142212398-142212399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370239071	chr3:142212402-142212403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35894170	chr3:142212486-142212487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563200267	chr3:142212563-142212564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530378476	chr3:142212587-142212588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77298210	chr3:142212608-142212609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566846496	chr3:142212615-142212616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534318900	chr3:142212642-142212643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566358742	chr3:142212643-142212644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552628052	chr3:142212684-142212685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138713659	chr3:142212710-142212711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397823197	chr3:142212723-142212724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571389991	chr3:142212825-142212826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144688514	chr3:142212850-142212851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112548387	chr3:142212900-142212901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556829202	chr3:142213014-142213015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373407415	chr3:142213036-142213037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182415796	chr3:142213037-142213038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75257588	chr3:142213063-142213064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551986706	chr3:142213074-142213075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572482543	chr3:142213087-142213088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1968 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142198400-142214400	Weak transcription	Stomach Mucosa	stomach
3	chr3:142199200-142216000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:142200000-142215200	Weak transcription	NHLF	lung
5	chr3:142200000-142223200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
7	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:142200800-142213400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:142200800-142214000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:142200800-142219800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:142201000-142218200	Strong transcription	Adipose Nuclei	Adipose
12	chr3:142201000-142218600	Strong transcription	Fetal Thymus	thymus
13	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
15	chr3:142201200-142218000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:142201200-142226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:142201400-142217000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:142201600-142216000	Strong transcription	Primary T cells from cord blood	blood
19	chr3:142201600-142216000	Strong transcription	GM12878-XiMat	blood
20	chr3:142201600-142218600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:142201600-142219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
23	chr3:142201800-142218000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:142202000-142221200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:142202000-142223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:142202000-142231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:142202200-142218000	Strong transcription	Fetal Intestine Large	intestine
33	chr3:142202200-142218600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:142202400-142214400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:142202400-142216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:142202400-142219400	Strong transcription	Dnd41	blood
38	chr3:142202600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:142202800-142218200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:142202800-142219000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:142203200-142218000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:142203600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:142203800-142212400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:142203800-142223000	Weak transcription	Lung	lung
46	chr3:142203800-142225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:142203800-142255200	Weak transcription	Gastric	stomach
48	chr3:142204200-142228000	Weak transcription	Pancreas	Pancrea
49	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
50	chr3:142204200-142273200	Weak transcription	Spleen	Spleen

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