Variant report

Variant	esv3463848
Chromosome Location	chr3:191069058-191073456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
3	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:
4	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
5	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
6	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:

Variant related genes	Relation type
ENSG00000188958	chromatin interactions
ENSG00000152492	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147637687	chr3:191069101-191069102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191222638	chr3:191069122-191069123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201848298	chr3:191069138-191069139	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375216055	chr3:191069141-191069142	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200390651	chr3:191069143-191069144	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545524806	chr3:191069206-191069207	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201366641	chr3:191069210-191069211	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140537917	chr3:191069218-191069219	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528208472	chr3:191069235-191069236	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541874132	chr3:191069304-191069305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144435570	chr3:191069333-191069334	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569799915	chr3:191069372-191069373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147815497	chr3:191069380-191069381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141656617	chr3:191069398-191069399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150416897	chr3:191069410-191069411	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559058664	chr3:191069446-191069447	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145216477	chr3:191069449-191069450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533055624	chr3:191069452-191069453	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552316552	chr3:191069463-191069464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142344820	chr3:191069467-191069468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566052167	chr3:191069492-191069493	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572496833	chr3:191069558-191069559	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534824999	chr3:191069647-191069648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548637582	chr3:191069707-191069708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113416484	chr3:191069711-191069712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113972308	chr3:191069733-191069734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544653323	chr3:191069743-191069744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200492250	chr3:191069756-191069757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201240934	chr3:191069758-191069759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397802655	chr3:191069759-191069760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557583366	chr3:191069771-191069772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143406848	chr3:191069806-191069807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540106728	chr3:191069807-191069808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76075882	chr3:191069837-191069838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572769919	chr3:191069903-191069904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370434863	chr3:191069937-191069938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535873981	chr3:191069951-191069952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541562873	chr3:191069953-191069954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs297396	chr3:191069984-191069985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574987642	chr3:191069985-191069986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544049441	chr3:191069987-191069988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139027085	chr3:191069989-191069990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34121976	chr3:191070096-191070097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533091563	chr3:191070101-191070102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55804933	chr3:191070123-191070124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183239365	chr3:191070162-191070163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559513079	chr3:191070204-191070205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528442752	chr3:191070273-191070274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548404673	chr3:191070279-191070280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116077509	chr3:191070300-191070301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
4	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
5	chr3:191061000-191070800	Weak transcription	Lung	lung
6	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:191062000-191075600	Weak transcription	K562	blood
10	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
11	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
12	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:191064200-191069800	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:191065400-191071400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:191066600-191071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:191067000-191069200	Weak transcription	Left Ventricle	heart
19	chr3:191067200-191069200	Weak transcription	Gastric	stomach
20	chr3:191067200-191069800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr3:191067400-191071000	Enhancers	Liver	Liver
22	chr3:191067600-191070600	Enhancers	HepG2	liver
23	chr3:191067600-191070800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:191067600-191071600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:191067800-191069400	Flanking Active TSS	HUVEC	blood vessel
26	chr3:191067800-191070800	Enhancers	Fetal Heart	heart
27	chr3:191067800-191071000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:191067800-191071200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:191067800-191071600	Enhancers	Adipose Nuclei	Adipose
30	chr3:191068000-191069600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:191068000-191070400	Enhancers	Hela-S3	cervix
32	chr3:191068000-191070800	Weak transcription	GM12878-XiMat	blood
33	chr3:191068000-191071400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:191068200-191069400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:191068200-191071400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:191068200-191072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:191068400-191069200	Weak transcription	NHEK	skin
38	chr3:191068400-191069800	Enhancers	Right Ventricle	heart
39	chr3:191068400-191069800	Enhancers	Small Intestine	intestine
40	chr3:191068400-191073200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:191068600-191069600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:191068600-191069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:191068600-191069600	Weak transcription	Stomach Mucosa	stomach
44	chr3:191068600-191069800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:191068600-191069800	Enhancers	Psoas Muscle	Psoas
46	chr3:191068600-191070200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:191068600-191070200	Enhancers	NH-A	brain
48	chr3:191068600-191071400	Enhancers	Fetal Lung	lung
49	chr3:191068600-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:191068600-191073800	Weak transcription	NHLF	lung

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