Variant report

Variant	esv3505628
Chromosome Location	chr2:38851120-38852365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
2	chr2:38827906..38831148-chr2:38849873..38855053,6	K562	blood:
3	chr2:38852070..38854007-chr2:38978194..38979843,2	MCF-7	breast:
4	chr2:38828271..38831581-chr2:38848960..38853344,4	K562	blood:
5	chr2:38850355..38852366-chr2:38854447..38858679,3	K562	blood:
6	chr2:38850084..38852366-chr2:38855789..38858760,2	K562	blood:

Variant related genes	Relation type
ENSG00000143889	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000152147	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145467438	chr2:38851138-38851139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539754527	chr2:38851168-38851169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58563643	chr2:38851185-38851186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573766321	chr2:38851190-38851191	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540997127	chr2:38851237-38851238	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190438230	chr2:38851250-38851251	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572366255	chr2:38851270-38851271	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566494627	chr2:38851292-38851293	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377700678	chr2:38851299-38851300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564574332	chr2:38851308-38851309	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571333823	chr2:38851332-38851333	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111312062	chr2:38851341-38851342	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199894750	chr2:38851393-38851394	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538651251	chr2:38851400-38851401	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550281758	chr2:38851407-38851408	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs139774466	chr2:38851430-38851431	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13008817	chr2:38851465-38851466	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74425859	chr2:38851489-38851490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs824586	chr2:38851505-38851506	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147635924	chr2:38851510-38851511	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528895877	chr2:38851534-38851535	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376717615	chr2:38851546-38851547	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539063380	chr2:38851555-38851556	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371259537	chr2:38851565-38851566	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114272653	chr2:38851733-38851734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374499256	chr2:38851734-38851735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182650706	chr2:38851795-38851796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538038161	chr2:38851807-38851808	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377728317	chr2:38851836-38851837	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536786565	chr2:38851843-38851844	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142204365	chr2:38851846-38851847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112038413	chr2:38851850-38851851	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186345996	chr2:38851860-38851861	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534784110	chr2:38851864-38851865	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114383458	chr2:38851865-38851866	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577822300	chr2:38851883-38851884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs190794776	chr2:38851892-38851893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545319480	chr2:38851933-38851934	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75951321	chr2:38851952-38851953	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576482159	chr2:38851957-38851958	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142161534	chr2:38852030-38852031	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370139228	chr2:38852031-38852032	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs116483147	chr2:38852118-38852119	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs151075704	chr2:38852144-38852145	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs547921125	chr2:38852200-38852201	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs553760356	chr2:38852202-38852203	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs559685508	chr2:38852203-38852204	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs533718747	chr2:38852213-38852214	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs182706490	chr2:38852253-38852254	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs7560608	chr2:38852258-38852259	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38847400-38853400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:38847800-38852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:38848000-38851600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:38848000-38851800	Weak transcription	Thymus	Thymus
6	chr2:38848200-38851800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:38848200-38854000	Weak transcription	Stomach Mucosa	stomach
8	chr2:38849800-38855400	Weak transcription	GM12878-XiMat	blood
9	chr2:38849800-38855600	Enhancers	Fetal Thymus	thymus
10	chr2:38850000-38851800	Weak transcription	HepG2	liver
11	chr2:38850000-38851800	Weak transcription	K562	blood
12	chr2:38850000-38854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:38850400-38851800	Weak transcription	Dnd41	blood
14	chr2:38850400-38853000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:38850400-38853400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:38850400-38853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:38851200-38851600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:38851600-38852800	Enhancers	Fetal Intestine Large	intestine
19	chr2:38851800-38852000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:38851800-38852000	Enhancers	Esophagus	oesophagus
21	chr2:38851800-38852000	Flanking Active TSS	HepG2	liver
22	chr2:38851800-38852200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:38851800-38852600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:38851800-38852600	Enhancers	Fetal Intestine Small	intestine
25	chr2:38851800-38853200	Enhancers	Dnd41	blood
26	chr2:38851800-38853200	Enhancers	K562	blood
27	chr2:38851800-38853400	Enhancers	Thymus	Thymus
28	chr2:38852000-38852200	Weak transcription	Esophagus	oesophagus
29	chr2:38852000-38852400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:38852000-38852600	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr2:38852200-38853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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