Variant report

Variant	esv3363601
Chromosome Location	chr2:233965558-233967656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233954509..233957315-chr2:233965664..233967845,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187457991	chr2:233965614-233965615	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576727757	chr2:233965627-233965628	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142051863	chr2:233965661-233965662	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60420997	chr2:233965665-233965666	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193203110	chr2:233965669-233965670	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556388390	chr2:233965693-233965694	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185386726	chr2:233965695-233965696	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542172989	chr2:233965785-233965786	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137961676	chr2:233965794-233965795	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572308983	chr2:233965810-233965811	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541493916	chr2:233965826-233965827	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369531465	chr2:233965844-233965845	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189104390	chr2:233965851-233965852	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149494847	chr2:233965883-233965884	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537936947	chr2:233965891-233965892	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192199880	chr2:233965906-233965907	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143871857	chr2:233965933-233965934	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372949861	chr2:233965934-233965935	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375985338	chr2:233965958-233965959	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549308000	chr2:233965978-233965979	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565895117	chr2:233966085-233966086	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74367325	chr2:233966198-233966199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547442842	chr2:233966290-233966291	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570467832	chr2:233966321-233966322	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199639605	chr2:233966332-233966333	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539552320	chr2:233966334-233966335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549208958	chr2:233966373-233966374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202020078	chr2:233966387-233966388	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555863828	chr2:233966418-233966419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9749807	chr2:233966466-233966467	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142705980	chr2:233966474-233966475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11442850	chr2:233966525-233966526	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397940985	chr2:233966526-233966527	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565958492	chr2:233966542-233966543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558929210	chr2:233966575-233966576	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183696103	chr2:233966588-233966589	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534993219	chr2:233966659-233966660	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541247580	chr2:233966706-233966707	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564342628	chr2:233966710-233966711	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578019080	chr2:233966713-233966714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61591958	chr2:233966722-233966723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563527039	chr2:233966741-233966742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535649892	chr2:233966752-233966753	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61067790	chr2:233966797-233966798	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549218366	chr2:233966833-233966834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559642785	chr2:233966849-233966850	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74461644	chr2:233966850-233966851	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551666357	chr2:233966865-233966866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114944964	chr2:233966866-233966867	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116621279	chr2:233966897-233966898	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233948600-233971800	Weak transcription	Right Ventricle	heart
2	chr2:233954200-233965600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:233957600-233969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:233958800-233977600	Weak transcription	Left Ventricle	heart
5	chr2:233961800-233966200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:233962400-233965600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:233962600-233967200	Genic enhancers	Primary hematopoietic stem cells	blood
8	chr2:233962800-233967200	Enhancers	Spleen	Spleen
9	chr2:233964000-233965800	Genic enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:233964000-233966800	Enhancers	Dnd41	blood
11	chr2:233964200-233966600	Enhancers	Thymus	Thymus
12	chr2:233964200-233967800	Enhancers	Primary B cells from cord blood	blood
13	chr2:233964200-233981600	Weak transcription	Pancreas	Pancrea
14	chr2:233964400-233966000	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:233964400-233973200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:233964600-233966600	Enhancers	Fetal Thymus	thymus
17	chr2:233964800-233965800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:233964800-233965800	Enhancers	Esophagus	oesophagus
19	chr2:233964800-233966000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:233964800-233966000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:233964800-233966000	Strong transcription	HepG2	liver
22	chr2:233965000-233965600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:233965000-233965800	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:233965000-233965800	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr2:233965000-233965800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr2:233965000-233965800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr2:233965000-233965800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:233965000-233965800	Enhancers	Lung	lung
29	chr2:233965000-233965800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:233965000-233966000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:233965200-233965600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:233965200-233965800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
33	chr2:233965200-233965800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:233965200-233965800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:233965200-233966000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:233965400-233965600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:233965400-233965600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
38	chr2:233965400-233965800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr2:233965400-233965800	Enhancers	HUVEC	blood vessel
40	chr2:233965400-233966000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:233965400-233966000	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:233965400-233966000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:233965400-233966200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:233965400-233967000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:233965400-233967000	Weak transcription	Colonic Mucosa	Colon
46	chr2:233965600-233965800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:233965600-233965800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr2:233965600-233966000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:233965600-233966000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:233965600-233966400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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