Variant report

Variant	esv1819976
Chromosome Location	chr3:157923372-157945591
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:157919172..157921110-chr3:157935247..157936835,2	MCF-7	breast:
2	chr3:157942867..157945587-chr3:157947255..157949250,2	MCF-7	breast:
3	chr3:157921324..157922851-chr3:157926658..157929146,2	K562	blood:
4	chr3:157827982..157830028-chr3:157925394..157927167,2	MCF-7	breast:
5	chr3:157918736..157922824-chr3:157924419..157928158,4	K562	blood:
6	chr3:157935014..157937097-chr3:157940736..157943383,2	K562	blood:
7	chr3:157935014..157937097-chr3:157940736..157943383,2	K562	blood:
8	chr3:157921034..157923673-chr3:157931290..157933700,2	K562	blood:
9	chr3:157930315..157932972-chr3:157950342..157951863,2	K562	blood:
10	chr3:157921034..157923673-chr3:157931290..157933700,2	K562	blood:
11	chr3:157930356..157934544-chr3:157935116..157938081,3	MCF-7	breast:
12	chr3:157930356..157934544-chr3:157935116..157938081,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174891	chromatin interactions

Extended variants
information (count: 784 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575775991	chr3:157923409-157923410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142829238	chr3:157923411-157923412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564762301	chr3:157923415-157923416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147374458	chr3:157923420-157923421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558254640	chr3:157923436-157923437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs827141	chr3:157923451-157923452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs559701251	chr3:157923455-157923456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139587828	chr3:157923458-157923459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191590326	chr3:157923459-157923460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548407831	chr3:157923497-157923498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567760572	chr3:157923656-157923657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6441180	chr3:157923668-157923669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550135967	chr3:157923677-157923678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571581603	chr3:157923683-157923684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548872395	chr3:157923690-157923691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539046897	chr3:157923706-157923707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554128153	chr3:157923707-157923708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556374162	chr3:157923721-157923722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566033362	chr3:157923741-157923742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73166311	chr3:157923769-157923770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs827142	chr3:157923781-157923782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs575716016	chr3:157923797-157923798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569097226	chr3:157923815-157923816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76559615	chr3:157923913-157923914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183551752	chr3:157923928-157923929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560073361	chr3:157923941-157923942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370395793	chr3:157924033-157924034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77672287	chr3:157924090-157924091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148614427	chr3:157924106-157924107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142432966	chr3:157924109-157924110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529235810	chr3:157924156-157924157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537730189	chr3:157924211-157924212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540698227	chr3:157924216-157924217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548995310	chr3:157924234-157924235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542038337	chr3:157924294-157924295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28605388	chr3:157924317-157924318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563511970	chr3:157924319-157924320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs827143	chr3:157924321-157924322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs80237822	chr3:157924333-157924334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28416545	chr3:157924350-157924351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs852110	chr3:157924373-157924374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188037153	chr3:157924403-157924404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73874331	chr3:157924417-157924418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201181650	chr3:157924421-157924422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146892472	chr3:157924427-157924428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13064323	chr3:157924446-157924447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536581350	chr3:157924457-157924458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192976329	chr3:157924465-157924466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570121135	chr3:157924519-157924520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537665625	chr3:157924520-157924521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157914200-157984400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:157917000-157926200	Weak transcription	Ovary	ovary
3	chr3:157918000-157938000	Weak transcription	Left Ventricle	heart
4	chr3:157919200-157923800	Weak transcription	Primary T cells from cord blood	blood
5	chr3:157919200-157958000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:157919400-157924000	Weak transcription	Fetal Lung	lung
7	chr3:157919400-157924200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:157919600-157934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:157919800-157928000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:157919800-157930400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:157919800-157931600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:157919800-157952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:157920000-157935000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:157920200-157957000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:157920800-157924600	Weak transcription	HSMM	muscle
16	chr3:157921000-157937600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:157921200-157926800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:157921200-157936000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:157921600-157924400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:157921600-157926800	Weak transcription	Dnd41	blood
21	chr3:157921600-157936400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:157922000-157950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:157923600-157924200	Enhancers	GM12878-XiMat	blood
24	chr3:157923800-157924200	Strong transcription	Primary T cells from cord blood	blood
25	chr3:157924000-157924200	Enhancers	Fetal Lung	lung
26	chr3:157924200-157925200	Weak transcription	Primary T cells from cord blood	blood
27	chr3:157925200-157925600	Strong transcription	Primary T cells from cord blood	blood
28	chr3:157925600-157936000	Weak transcription	Primary T cells from cord blood	blood
29	chr3:157926200-157926400	Enhancers	Ovary	ovary
30	chr3:157926400-157938000	Weak transcription	Ovary	ovary
31	chr3:157926800-157927600	Strong transcription	Primary B cells from cord blood	blood
32	chr3:157926800-157929000	Strong transcription	Dnd41	blood
33	chr3:157927000-157945200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:157927000-157952600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:157927000-157968800	Weak transcription	Psoas Muscle	Psoas
36	chr3:157927200-157929800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:157927600-157937600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:157928000-157928200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:157928200-157956200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:157929000-157946800	Weak transcription	Dnd41	blood
41	chr3:157930600-157936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:157931000-157937600	Weak transcription	Stomach Mucosa	stomach
43	chr3:157932600-157933000	Enhancers	Fetal Heart	heart
44	chr3:157933000-157936600	Weak transcription	Fetal Heart	heart
45	chr3:157933800-157957200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:157934600-157934800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:157934800-157938800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:157935000-157935800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr3:157935000-157951600	Weak transcription	K562	blood
50	chr3:157935400-157937000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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