Variant report

Variant	esv3461203
Chromosome Location	chr3:156091283-156094631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
2	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
3	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
4	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3772249	chr3:156091310-156091311	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539960331	chr3:156091326-156091327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551440219	chr3:156091434-156091435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557860951	chr3:156091452-156091453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs938417	chr3:156091499-156091500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs735572	chr3:156091512-156091513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553320638	chr3:156091578-156091579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71310472	chr3:156091681-156091682	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143092380	chr3:156091699-156091700	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556216478	chr3:156091706-156091707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542025932	chr3:156091735-156091736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151164364	chr3:156091779-156091780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530512139	chr3:156091863-156091864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574498169	chr3:156091866-156091867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545930896	chr3:156091903-156091904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563881104	chr3:156091911-156091912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535540020	chr3:156091933-156091934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183141433	chr3:156091954-156091955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568391578	chr3:156091961-156091962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529577303	chr3:156092042-156092043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113458358	chr3:156092046-156092047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550753107	chr3:156092050-156092051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186464835	chr3:156092051-156092052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539499147	chr3:156092071-156092072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116156504	chr3:156092129-156092130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141788745	chr3:156092136-156092137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4989481	chr3:156092164-156092165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs816545	chr3:156092170-156092171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574772056	chr3:156092207-156092208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574649039	chr3:156092239-156092240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557189918	chr3:156092242-156092243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147085921	chr3:156092251-156092252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545541054	chr3:156092302-156092303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375448904	chr3:156092405-156092406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528200434	chr3:156092443-156092444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138595645	chr3:156092537-156092538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572223131	chr3:156092589-156092590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73873344	chr3:156092590-156092591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531730697	chr3:156092632-156092633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190851039	chr3:156092665-156092666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546092967	chr3:156092711-156092712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373489945	chr3:156092730-156092731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550863415	chr3:156092856-156092857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562897272	chr3:156092954-156092955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549861796	chr3:156093021-156093022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112498224	chr3:156093087-156093088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113263517	chr3:156093094-156093095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530652978	chr3:156093170-156093171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182234788	chr3:156093186-156093187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138729431	chr3:156093190-156093191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156076400-156091600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156088600-156096000	Weak transcription	Placenta	Placenta
3	chr3:156089600-156091600	Enhancers	Brain Hippocampus Middle	brain
4	chr3:156089600-156092600	Enhancers	HSMMtube	muscle
5	chr3:156089800-156091600	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:156089800-156092400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:156090000-156092200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:156090000-156092200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:156090200-156091600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:156090200-156091600	Enhancers	Brain Substantia Nigra	brain
11	chr3:156090200-156091800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:156090200-156091800	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:156090200-156092000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:156090200-156092000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:156090200-156092200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:156090200-156092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:156090600-156091800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:156090600-156091800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:156090800-156094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:156090800-156100600	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:156091200-156092000	Enhancers	Fetal Kidney	kidney
22	chr3:156091200-156092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:156091600-156091800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:156091600-156091800	Enhancers	Colon Smooth Muscle	Colon
25	chr3:156091800-156092600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:156091800-156092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:156091800-156095000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:156092400-156101600	Weak transcription	Aorta	Aorta
29	chr3:156092800-156093000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:156094000-156094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:156094200-156105000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:156094600-156094800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:156094600-156096000	Enhancers	Fetal Heart	heart

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