Variant report

Variant	esv3425748
Chromosome Location	chr3:47451198-47453496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47451174..47454005-chr3:47464334..47466551,2	K562	blood:
2	chr3:47434120..47436973-chr3:47451029..47453038,2	K562	blood:
3	chr3:47450663..47453382-chr3:47461645..47463185,2	MCF-7	breast:
4	chr3:47451733..47454199-chr3:47553714..47555598,2	K562	blood:
5	chr3:47451769..47453360-chr3:47455312..47457238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114650	chromatin interactions
ENSG00000163832	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs201374534	chr3:47451201-47451202	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530669775	chr3:47451210-47451211	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140319285	chr3:47451211-47451212	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551844731	chr3:47451229-47451230	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150363204	chr3:47451232-47451233	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570452002	chr3:47451235-47451236	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116521545	chr3:47451263-47451264	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531510250	chr3:47451269-47451270	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375517314	chr3:47451291-47451292	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547301372	chr3:47451293-47451294	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202234682	chr3:47451299-47451300	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373194883	chr3:47451319-47451320	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376339315	chr3:47451351-47451352	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568801140	chr3:47451352-47451353	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536053670	chr3:47451370-47451371	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369307762	chr3:47451380-47451381	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373485788	chr3:47451381-47451382	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377544499	chr3:47451386-47451387	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544501123	chr3:47451390-47451391	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370421275	chr3:47451395-47451396	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3736177	chr3:47451411-47451412	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs539926264	chr3:47451424-47451425	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557838138	chr3:47451431-47451432	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150385027	chr3:47451436-47451437	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200475039	chr3:47451441-47451442	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200116483	chr3:47451455-47451456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370971952	chr3:47451463-47451464	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377745077	chr3:47451473-47451474	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371402807	chr3:47451477-47451478	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374300530	chr3:47451504-47451505	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574435224	chr3:47451512-47451513	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75208242	chr3:47451513-47451514	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141524036	chr3:47451517-47451518	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77776224	chr3:47451532-47451533	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199549354	chr3:47451536-47451537	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200140189	chr3:47451545-47451546	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563506036	chr3:47451546-47451547	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374108905	chr3:47451558-47451559	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140031403	chr3:47451564-47451565	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201511460	chr3:47451570-47451571	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374638928	chr3:47451606-47451607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552266464	chr3:47451634-47451635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200557594	chr3:47451636-47451637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116305269	chr3:47451638-47451639	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142254821	chr3:47451655-47451656	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374555949	chr3:47451663-47451664	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141149925	chr3:47451676-47451677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs137987776	chr3:47451678-47451679	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536166379	chr3:47451685-47451686	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149495987	chr3:47451704-47451705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47426200-47462400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47436000-47454600	Weak transcription	Hela-S3	cervix
3	chr3:47436200-47462000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:47436600-47454800	Weak transcription	Fetal Kidney	kidney
5	chr3:47437600-47453400	Weak transcription	Psoas Muscle	Psoas
6	chr3:47437800-47462800	Weak transcription	Fetal Brain Male	brain
7	chr3:47439200-47455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:47441400-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:47442000-47452800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:47444800-47459400	Strong transcription	Liver	Liver
12	chr3:47445000-47451400	Strong transcription	Primary T cells from cord blood	blood
13	chr3:47445000-47462000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:47445000-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:47445000-47462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:47445600-47462800	Strong transcription	Fetal Brain Female	brain
17	chr3:47445800-47455600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr3:47446000-47458400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:47446000-47462200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:47446000-47462800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:47446200-47462000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:47446200-47462800	Strong transcription	Dnd41	blood
23	chr3:47446400-47462800	Strong transcription	Colonic Mucosa	Colon
24	chr3:47446600-47456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:47446600-47457400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:47446600-47462800	Strong transcription	Brain Germinal Matrix	brain
27	chr3:47446800-47459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:47446800-47462000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:47446800-47462200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:47447000-47451200	Strong transcription	HepG2	liver
31	chr3:47447000-47451600	Strong transcription	GM12878-XiMat	blood
32	chr3:47447000-47452600	Weak transcription	NHDF-Ad	bronchial
33	chr3:47447000-47453200	Weak transcription	NH-A	brain
34	chr3:47447000-47454400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:47447000-47462400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:47447000-47462400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:47447000-47462400	Weak transcription	Fetal Heart	heart
38	chr3:47447000-47462400	Strong transcription	NHLF	lung
39	chr3:47447000-47462600	Strong transcription	Fetal Stomach	stomach
40	chr3:47447200-47457400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr3:47447200-47462200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:47447200-47462400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:47447400-47451200	Strong transcription	HSMM	muscle
44	chr3:47447400-47457400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:47447400-47462200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:47447400-47462400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr3:47447400-47462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:47447600-47454600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:47447600-47454800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:47447600-47458800	Strong transcription	Rectal Smooth Muscle	rectum

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