Variant report

Variant	esv3418674
Chromosome Location	chr3:143457005-143558357
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143473522..143476360-chr3:143484411..143487363,2	K562	blood:
2	chr3:143492598..143495313-chr3:143689451..143692753,3	MCF-7	breast:
3	chr3:143548374..143549959-chr3:143555685..143558599,3	MCF-7	breast:
4	chr3:143540836..143543345-chr3:143547418..143549416,3	MCF-7	breast:
5	chr3:143531756..143533614-chr3:143541669..143543725,2	MCF-7	breast:
6	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:
7	chr3:143531756..143533614-chr3:143541669..143543725,2	MCF-7	breast:
8	chr3:143548374..143549959-chr3:143555685..143558599,3	MCF-7	breast:
9	chr3:143486190..143488488-chr3:143493219..143495749,2	MCF-7	breast:
10	chr3:143552824..143555742-chr3:143557678..143559714,2	K562	blood:
11	chr3:143514332..143514918-chr3:143670242..143670855,2	MCF-7	breast:
12	chr3:143392972..143393858-chr3:143482403..143483076,2	MCF-7	breast:
13	chr3:143475833..143478348-chr3:143479892..143482754,2	K562	blood:
14	chr3:143461586..143463512-chr3:143463686..143466474,2	MCF-7	breast:
15	chr3:143540836..143543345-chr3:143547418..143549416,3	MCF-7	breast:
16	chr3:143473522..143476360-chr3:143484411..143487363,2	K562	blood:
17	chr3:143367249..143368125-chr3:143481961..143482742,5	MCF-7	breast:
18	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:
19	chr3:143552824..143555742-chr3:143557678..143559714,2	K562	blood:
20	chr3:143461586..143463512-chr3:143463686..143466474,2	MCF-7	breast:
21	chr3:143488732..143491486-chr3:143689795..143692066,2	MCF-7	breast:
22	chr3:143494312..143494922-chr3:143669977..143670492,2	MCF-7	breast:
23	chr3:143475833..143478348-chr3:143479892..143482754,2	K562	blood:
24	chr3:143450919..143453424-chr3:143456058..143458069,2	K562	blood:
25	chr11:126080284..126082597-chr3:143456468..143459368,2	MCF-7	breast:
26	chr3:143486190..143488488-chr3:143493219..143495749,2	MCF-7	breast:
27	chr3:143556738..143559123-chr3:143561803..143563430,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165526	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000197798	chromatin interactions

Extended variants
information (count: 4010 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4010 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76448015	chr3:143457012-143457013	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551482911	chr3:143457024-143457025	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115240377	chr3:143457028-143457029	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9871130	chr3:143457106-143457107	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536887337	chr3:143457119-143457120	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112992422	chr3:143457123-143457124	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573569503	chr3:143457177-143457178	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140781248	chr3:143457239-143457240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144833688	chr3:143457240-143457241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147917650	chr3:143457247-143457248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369200973	chr3:143457274-143457275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545976188	chr3:143457345-143457346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564642245	chr3:143457418-143457419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576621517	chr3:143457420-143457421	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372714785	chr3:143457481-143457482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115288696	chr3:143457528-143457529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191245196	chr3:143457551-143457552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558249056	chr3:143457637-143457638	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73009471	chr3:143457679-143457680	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116013018	chr3:143457681-143457682	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375974601	chr3:143457699-143457700	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs12637946	chr3:143457710-143457711	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs115462418	chr3:143457711-143457712	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114490090	chr3:143457724-143457725	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548732800	chr3:143457742-143457743	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182643482	chr3:143457765-143457766	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534579719	chr3:143457775-143457776	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs58071776	chr3:143457778-143457779	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565923490	chr3:143457786-143457787	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531281694	chr3:143457816-143457817	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148831967	chr3:143457838-143457839	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372236868	chr3:143457852-143457853	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576580056	chr3:143457870-143457871	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143429860	chr3:143457916-143457917	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373187770	chr3:143457943-143457944	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555983843	chr3:143457995-143457996	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75139870	chr3:143458083-143458084	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541358371	chr3:143458084-143458085	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113711453	chr3:143458085-143458086	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73009475	chr3:143458090-143458091	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550986840	chr3:143458099-143458100	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544959225	chr3:143458104-143458105	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367887332	chr3:143458135-143458136	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371181761	chr3:143458145-143458146	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562959837	chr3:143458199-143458200	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530505505	chr3:143458225-143458226	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371828289	chr3:143458238-143458239	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187602366	chr3:143458245-143458246	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567118404	chr3:143458395-143458396	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560361390	chr3:143458467-143458468	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143438400-143469800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:143442200-143470200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:143446800-143460400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:143447400-143469800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:143450800-143457800	Weak transcription	Fetal Lung	lung
7	chr3:143450800-143488600	Weak transcription	Ovary	ovary
8	chr3:143451400-143458600	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:143454600-143457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:143454600-143457800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:143454600-143458000	Enhancers	NHEK	skin
12	chr3:143456200-143457200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:143456200-143457200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:143456400-143457600	Enhancers	HMEC	breast
15	chr3:143456800-143457800	Weak transcription	Aorta	Aorta
16	chr3:143457200-143458000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:143457200-143458800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:143457200-143488600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:143457600-143457800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:143457800-143458000	ZNF genes & repeats	Aorta	Aorta
21	chr3:143457800-143458000	Enhancers	Psoas Muscle	Psoas
22	chr3:143457800-143459000	ZNF genes & repeats	Fetal Lung	lung
23	chr3:143458000-143458200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:143458000-143494400	Weak transcription	Psoas Muscle	Psoas
25	chr3:143458600-143459000	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr3:143458800-143459000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr3:143458800-143459400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:143460200-143460600	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr3:143460200-143460600	ZNF genes & repeats	Fetal Lung	lung
30	chr3:143460600-143468200	Weak transcription	Fetal Lung	lung
31	chr3:143460600-143469000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:143462200-143462400	ZNF genes & repeats	Esophagus	oesophagus
33	chr3:143462400-143464800	Weak transcription	Esophagus	oesophagus
34	chr3:143463000-143463800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:143463400-143464600	Enhancers	Brain Germinal Matrix	brain
36	chr3:143464600-143465000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:143464800-143465000	Enhancers	Esophagus	oesophagus
38	chr3:143464800-143465200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:143465000-143490600	Weak transcription	Esophagus	oesophagus
40	chr3:143465600-143469800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:143468000-143469800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:143468200-143468400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:143468200-143468400	Flanking Active TSS	Fetal Lung	lung
44	chr3:143468200-143468600	Enhancers	Brain Angular Gyrus	brain
45	chr3:143468400-143468600	Enhancers	Fetal Lung	lung
46	chr3:143468400-143470400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:143468400-143470400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:143468600-143468800	Flanking Active TSS	Fetal Lung	lung
49	chr3:143468600-143469000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr3:143468600-143469800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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