Variant report

Variant	esv3402038
Chromosome Location	chr2:20416971-20419869
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:
2	chr2:20329860..20331531-chr2:20418864..20420895,2	MCF-7	breast:
3	chr2:20415298..20418162-chr2:20421703..20423542,3	K562	blood:
4	chr2:20418255..20420764-chr20:52271543..52273696,2	MCF-7	breast:
5	chr17:57152201..57154948-chr2:20418855..20421470,2	MCF-7	breast:
6	chr2:20414820..20416839-chr2:20419190..20421088,3	K562	blood:
7	chr2:20418331..20420755-chr21:46948637..46950137,2	MCF-7	breast:
8	chr2:20366147..20368368-chr2:20415586..20417297,2	MCF-7	breast:
9	chr2:20301244..20303124-chr2:20419816..20421979,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115884	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000068697	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564949867	chr2:20416988-20416989	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370511221	chr2:20417019-20417020	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146161378	chr2:20417100-20417101	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3755300	chr2:20417113-20417114	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186503629	chr2:20417138-20417139	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532235996	chr2:20417158-20417159	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570123625	chr2:20417162-20417163	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543578291	chr2:20417234-20417235	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563785749	chr2:20417288-20417289	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116192336	chr2:20417302-20417303	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370703939	chr2:20417381-20417382	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562655401	chr2:20417389-20417390	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191398850	chr2:20417402-20417403	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548499409	chr2:20417420-20417421	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115010744	chr2:20417455-20417456	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3771232	chr2:20417488-20417489	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141238491	chr2:20417509-20417510	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546582470	chr2:20417521-20417522	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566636216	chr2:20417555-20417556	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538702572	chr2:20417563-20417564	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558750300	chr2:20417594-20417595	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114161326	chr2:20417613-20417614	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140191564	chr2:20417624-20417625	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115028095	chr2:20417626-20417627	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575026680	chr2:20417633-20417634	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540270724	chr2:20417695-20417696	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549392108	chr2:20417761-20417762	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553762379	chr2:20417771-20417772	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577015287	chr2:20417824-20417825	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552675518	chr2:20417891-20417892	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370922345	chr2:20417906-20417907	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562428649	chr2:20417953-20417954	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115098856	chr2:20417982-20417983	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541657172	chr2:20417984-20417985	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149762346	chr2:20418024-20418025	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528804177	chr2:20418031-20418032	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73231458	chr2:20418044-20418045	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182783917	chr2:20418064-20418065	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566503580	chr2:20418067-20418068	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186687061	chr2:20418102-20418103	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75750075	chr2:20418107-20418108	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569228677	chr2:20418163-20418164	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs75264707	chr2:20418167-20418168	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189573954	chr2:20418205-20418206	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144682167	chr2:20418274-20418275	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs3771231	chr2:20418288-20418289	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146986407	chr2:20418290-20418291	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553823798	chr2:20418303-20418304	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576948684	chr2:20418312-20418313	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537636848	chr2:20418319-20418320	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20404000-20422400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:20404600-20420800	Enhancers	Stomach Mucosa	stomach
4	chr2:20410600-20417400	Enhancers	Fetal Intestine Large	intestine
5	chr2:20412600-20420600	Weak transcription	NHLF	lung
6	chr2:20413000-20417600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:20413200-20420600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:20413200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:20413400-20419800	Weak transcription	Pancreas	Pancrea
10	chr2:20413400-20420600	Weak transcription	NH-A	brain
11	chr2:20413400-20421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:20413800-20417600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:20413800-20418400	Weak transcription	Fetal Lung	lung
14	chr2:20414000-20417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20414000-20421400	Weak transcription	Hela-S3	cervix
16	chr2:20414200-20418200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:20414200-20418200	Weak transcription	Spleen	Spleen
18	chr2:20414200-20420200	Strong transcription	Fetal Stomach	stomach
19	chr2:20414200-20420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:20414200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:20414600-20417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:20414600-20421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:20414600-20421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:20414800-20417200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:20414800-20419400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20414800-20419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:20414800-20420200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:20414800-20420400	Genic enhancers	Placenta	Placenta
29	chr2:20414800-20420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:20414800-20421600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:20415000-20418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:20415000-20420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:20415000-20421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:20415200-20418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:20415200-20422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:20415400-20417800	Enhancers	Colonic Mucosa	Colon
37	chr2:20415400-20418200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:20415400-20418200	Weak transcription	Fetal Kidney	kidney
39	chr2:20415400-20419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:20415600-20422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:20415800-20417600	Enhancers	Liver	Liver
42	chr2:20415800-20418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
44	chr2:20416000-20417000	Strong transcription	A549	lung
45	chr2:20416000-20418400	Enhancers	HepG2	liver
46	chr2:20416000-20420400	Enhancers	Lung	lung
47	chr2:20416000-20423800	Transcr. at gene 5' and 3'	NHEK	skin
48	chr2:20416200-20417200	Weak transcription	Gastric	stomach
49	chr2:20416200-20420000	Strong transcription	Fetal Intestine Small	intestine
50	chr2:20416200-20423200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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