Variant report

Variant	esv1810325
Chromosome Location	chr3:156061497-156081835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156060114..156062133-chr3:156063851..156066009,3	K562	blood:
2	chr3:156050570..156052505-chr3:156062624..156065226,2	K562	blood:
3	chr3:156064694..156066364-chr3:156069401..156071214,2	K562	blood:
4	chr3:156064694..156066364-chr3:156069401..156071214,2	K562	blood:
5	chr3:156047457..156049011-chr3:156064296..156066082,2	K562	blood:
6	chr3:156063000..156066364-chr3:156067532..156070901,4	K562	blood:
7	chr3:156068154..156070454-chr3:156076598..156078421,2	K562	blood:
8	chr3:156060114..156062133-chr3:156063851..156066009,3	K562	blood:
9	chr3:156063000..156066364-chr3:156067532..156070901,4	K562	blood:
10	chr3:156068154..156070454-chr3:156076598..156078421,2	K562	blood:
11	chr3:156075207..156077071-chr3:156101345..156103192,2	K562	blood:

No data

Extended variants
information (count: 750 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3772238	chr3:156061497-156061498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374668021	chr3:156061531-156061532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183432937	chr3:156061550-156061551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187140378	chr3:156061565-156061566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571839189	chr3:156061608-156061609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530346365	chr3:156061634-156061635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78346719	chr3:156061644-156061645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570245339	chr3:156061678-156061679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555834126	chr3:156061728-156061729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574241047	chr3:156061737-156061738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537680286	chr3:156061747-156061748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552658433	chr3:156061785-156061786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570868127	chr3:156061827-156061828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534985006	chr3:156061964-156061965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553115803	chr3:156061991-156061992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376840407	chr3:156061997-156061998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574805742	chr3:156062012-156062013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191907355	chr3:156062083-156062084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183723992	chr3:156062085-156062086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149290467	chr3:156062115-156062116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375641818	chr3:156062133-156062134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534509277	chr3:156062176-156062177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543215830	chr3:156062205-156062206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186900513	chr3:156062221-156062222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576881402	chr3:156062231-156062232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16826014	chr3:156062232-156062233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559062370	chr3:156062248-156062249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541529389	chr3:156062283-156062284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144637928	chr3:156062319-156062320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564015370	chr3:156062327-156062328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531089228	chr3:156062362-156062363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58915612	chr3:156062377-156062378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560255114	chr3:156062388-156062389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59786955	chr3:156062429-156062430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373279601	chr3:156062446-156062447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192407561	chr3:156062470-156062471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554536716	chr3:156062471-156062472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185550046	chr3:156062477-156062478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546050977	chr3:156062478-156062479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547105365	chr3:156062499-156062500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9880939	chr3:156062505-156062506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370204829	chr3:156062565-156062566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535504644	chr3:156062618-156062619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564253077	chr3:156062622-156062623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9843163	chr3:156062666-156062667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569623345	chr3:156062671-156062672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148477623	chr3:156062677-156062678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558494597	chr3:156062724-156062725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576993913	chr3:156062736-156062737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61376380	chr3:156062748-156062749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156053000-156064800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:156053200-156061600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:156058600-156071600	Weak transcription	Aorta	Aorta
4	chr3:156061000-156062200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:156061200-156062400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:156061400-156062400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:156061600-156062000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:156061600-156062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:156061600-156062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:156061600-156062400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:156061600-156062400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:156062000-156062400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:156062400-156069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:156065000-156065200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:156067000-156070600	Weak transcription	Right Atrium	heart
16	chr3:156067600-156069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:156068600-156069200	Enhancers	Left Ventricle	heart
18	chr3:156068600-156069200	Enhancers	HUVEC	blood vessel
19	chr3:156068600-156069400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:156068600-156069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:156068600-156069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:156068800-156069400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:156069000-156070000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:156069200-156070000	Weak transcription	Left Ventricle	heart
25	chr3:156069400-156072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:156069400-156074200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:156069600-156069800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:156069800-156070200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:156069800-156076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:156070000-156070200	Enhancers	Left Ventricle	heart
31	chr3:156070000-156071400	Enhancers	Fetal Heart	heart
32	chr3:156070200-156071200	Weak transcription	Left Ventricle	heart
33	chr3:156070400-156070800	Enhancers	Right Ventricle	heart
34	chr3:156070600-156070800	Enhancers	Right Atrium	heart
35	chr3:156070800-156074600	Weak transcription	Right Atrium	heart
36	chr3:156071000-156071600	Enhancers	Hela-S3	cervix
37	chr3:156071400-156071600	Enhancers	Left Ventricle	heart
38	chr3:156071400-156071600	Enhancers	Pancreas	Pancrea
39	chr3:156071400-156074400	Weak transcription	Fetal Heart	heart
40	chr3:156071600-156071800	Enhancers	Aorta	Aorta
41	chr3:156071600-156076000	Weak transcription	Hela-S3	cervix
42	chr3:156072600-156073200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:156072600-156073200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:156073000-156073400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:156073200-156074400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:156073200-156076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:156073400-156076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:156073600-156075000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:156074000-156075000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:156074200-156074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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