Variant report

Variant	nsv965420
Chromosome Location	chr3:98299862-98302622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98300331..98302518-chr3:98312399..98314281,2	K562	blood:
2	chr3:98241309..98243234-chr3:98301701..98304609,2	K562	blood:

Variant related genes	Relation type
ENSG00000080819	chromatin interactions
ENSG00000248839	chromatin interactions
ENSG00000080822	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534356828	chr3:98299870-98299871	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs574370990	chr3:98299893-98299894	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs557470527	chr3:98299924-98299925	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs372704244	chr3:98299947-98299948	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs377490240	chr3:98299968-98299969	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs571193343	chr3:98299974-98299975	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs77135466	chr3:98300088-98300089	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs557002072	chr3:98300118-98300119	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs576735741	chr3:98300123-98300124	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs542436342	chr3:98300125-98300126	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs188436755	chr3:98300187-98300188	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs374682933	chr3:98300214-98300215	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556133181	chr3:98300220-98300221	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371173936	chr3:98300229-98300230	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368739316	chr3:98300235-98300236	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199963669	chr3:98300242-98300243	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370245685	chr3:98300248-98300249	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202148820	chr3:98300252-98300253	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563304155	chr3:98300262-98300263	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs121917868	chr3:98300318-98300319	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200089706	chr3:98300322-98300323	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35598046	chr3:98300326-98300327	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145903251	chr3:98300352-98300353	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200520127	chr3:98300354-98300355	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374136925	chr3:98300355-98300356	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368031409	chr3:98300371-98300372	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371775885	chr3:98300387-98300388	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374933974	chr3:98300391-98300392	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533327342	chr3:98300447-98300448	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181563962	chr3:98300477-98300478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563421682	chr3:98300486-98300487	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7651792	chr3:98300506-98300507	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548758613	chr3:98300537-98300538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575213935	chr3:98300580-98300581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190796487	chr3:98300582-98300583	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182086907	chr3:98300585-98300586	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186193822	chr3:98300624-98300625	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571188449	chr3:98300647-98300648	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145383906	chr3:98300729-98300730	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7617675	chr3:98300731-98300732	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564646735	chr3:98300741-98300742	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3828373	chr3:98300749-98300750	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189776373	chr3:98300799-98300800	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547301535	chr3:98300832-98300833	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562931726	chr3:98300853-98300854	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374024595	chr3:98300918-98300919	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs180723728	chr3:98300931-98300932	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570965736	chr3:98300947-98300948	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367568460	chr3:98300956-98300957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558414719	chr3:98300957-98300958	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98285000-98303400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:98286800-98304200	Weak transcription	Pancreas	Pancrea
3	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:98288200-98303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:98290400-98307600	Weak transcription	Psoas Muscle	Psoas
7	chr3:98292400-98301600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:98292400-98307400	Weak transcription	Fetal Kidney	kidney
9	chr3:98292400-98307600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:98292400-98310400	Weak transcription	Small Intestine	intestine
11	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
12	chr3:98292600-98303000	Weak transcription	A549	lung
13	chr3:98292600-98310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:98292800-98303600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:98293000-98303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:98293200-98310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:98294400-98310400	Weak transcription	Colonic Mucosa	Colon
19	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
20	chr3:98294600-98303400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:98294600-98304400	Weak transcription	Right Ventricle	heart
22	chr3:98294600-98308200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:98294800-98302800	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:98294800-98308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
26	chr3:98295000-98305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:98295000-98308000	Weak transcription	Brain Germinal Matrix	brain
28	chr3:98295200-98300600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:98295200-98300600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:98295200-98300800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:98295200-98300800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:98295200-98301200	Strong transcription	Fetal Intestine Large	intestine
33	chr3:98295200-98301400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:98295200-98303400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:98295200-98308200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:98295400-98303600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr3:98295400-98307200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:98295600-98300200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr3:98295600-98300800	Strong transcription	HepG2	liver
40	chr3:98295600-98301200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:98295600-98303600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:98295600-98309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:98295800-98300200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:98295800-98300200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:98295800-98300600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:98295800-98300800	Strong transcription	Fetal Thymus	thymus
47	chr3:98295800-98301200	Strong transcription	Dnd41	blood
48	chr3:98296000-98300200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:98296000-98300200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:98296000-98300600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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