Variant report

Variant	esv3463549
Chromosome Location	chr3:140760163-140765306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:140763600-140763829	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr3:140764145-140764397	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:140764113-140764346	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr3:140760943-140761124	SH-SY5Y	brain:	n/a	n/a
5	NRF1	chr3:140764076-140764131	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:140761631-140761774	MCF10A-Er-Src	breast:	n/a	n/a
7	RELA	chr3:140764094-140764468	GM18951	blood:	n/a	n/a
8	RELA	chr3:140763984-140764468	GM19099	blood:	n/a	n/a
9	RELA	chr3:140764068-140764549	GM19193	blood:	n/a	n/a
10	RELA	chr3:140764069-140764409	GM10847	blood:	n/a	n/a
11	RELA	chr3:140763922-140764472	GM12891	blood:	n/a	n/a
12	RELA	chr3:140764097-140764457	GM12878	blood:	n/a	n/a
13	STAT3	chr3:140763545-140763865	MCF10A-Er-Src	breast:	n/a	chr3:140763689-140763700 chr3:140763710-140763721
14	STAT3	chr3:140763455-140763880	MCF10A-Er-Src	breast:	n/a	chr3:140763689-140763700 chr3:140763710-140763721
15	STAT3	chr3:140764144-140764344	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr3:140763539-140763869	MCF10A-Er-Src	breast:	n/a	chr3:140763689-140763700 chr3:140763710-140763721
17	TEAD4	chr3:140764642-140765099	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:140763223..140765937-chr3:140775586..140778392,2	K562	blood:
2	chr3:140762813..140764824-chr3:140768643..140770363,2	MCF-7	breast:
3	chr3:140737164..140739325-chr3:140761875..140763616,2	MCF-7	breast:

Variant related genes	Relation type
SPSB4	TF binding region
ENSG00000175093	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558961144	chr3:140760174-140760175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111589230	chr3:140760175-140760176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184553360	chr3:140760187-140760188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544362572	chr3:140760193-140760194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199997383	chr3:140760288-140760289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142908023	chr3:140760305-140760306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370891522	chr3:140760311-140760312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542355122	chr3:140760323-140760324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560924796	chr3:140760339-140760340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528045552	chr3:140760340-140760341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546590084	chr3:140760378-140760379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559252141	chr3:140760447-140760448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564992551	chr3:140760451-140760452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532450831	chr3:140760512-140760513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527995410	chr3:140760520-140760521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548033569	chr3:140760535-140760536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150221944	chr3:140760561-140760562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186666862	chr3:140760662-140760663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372908605	chr3:140760689-140760690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536726675	chr3:140760705-140760706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548419150	chr3:140760767-140760768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566978969	chr3:140760778-140760779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9682681	chr3:140760784-140760785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138772234	chr3:140760805-140760806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558922943	chr3:140760831-140760832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577078889	chr3:140760932-140760933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149357641	chr3:140760943-140760944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538193937	chr3:140761063-140761064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556330184	chr3:140761064-140761065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111722529	chr3:140761082-140761083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144669360	chr3:140761085-140761086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542687003	chr3:140761091-140761092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561405614	chr3:140761125-140761126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560786135	chr3:140761137-140761138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191470264	chr3:140761150-140761151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539796566	chr3:140761160-140761161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564941617	chr3:140761161-140761162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148492296	chr3:140761171-140761172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530257048	chr3:140761186-140761187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73868969	chr3:140761204-140761205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6810025	chr3:140761280-140761281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371380335	chr3:140761284-140761285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184317791	chr3:140761310-140761311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548383484	chr3:140761322-140761323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189988045	chr3:140761330-140761331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55674992	chr3:140761353-140761354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397755332	chr3:140761358-140761359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552310443	chr3:140761385-140761386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534306246	chr3:140761416-140761417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552285741	chr3:140761430-140761431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140759200-140764000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:140759200-140764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:140763800-140764200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:140764000-140765200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:140764000-140765400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:140764000-140766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:140764200-140764600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:140764400-140764800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr3:140764400-140764800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:140764400-140765000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:140764400-140765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:140764600-140765200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:140764800-140765000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:140764800-140765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:140764800-140769400	Weak transcription	Right Atrium	heart
16	chr3:140765200-140765400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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