Variant report

Variant	esv2762294
Chromosome Location	chr2:173028656-173071270
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173036908..173037998-chr2:173330152..173331274,5	MCF-7	breast:
2	chr2:173036829..173037908-chr2:173326699..173327718,4	MCF-7	breast:
3	chr2:173064653..173066712-chr2:173068939..173071306,2	MCF-7	breast:
4	chr2:173035234..173037276-chr2:173058871..173061187,2	K562	blood:
5	chr2:172668541..172671222-chr2:173069188..173070734,2	MCF-7	breast:
6	chr2:173044550..173046275-chr2:173093097..173095044,2	MCF-7	breast:
7	chr2:173035234..173037276-chr2:173058871..173061187,2	K562	blood:
8	chr2:173066119..173066645-chr2:173326492..173327358,2	MCF-7	breast:
9	chr2:173036822..173037869-chr2:173326506..173327964,7	K562	blood:
10	chr2:173037340..173040256-chr2:173329062..173331322,2	MCF-7	breast:
11	chr2:173061279..173063058-chr2:173066457..173068997,2	K562	blood:
12	chr2:173036913..173037884-chr2:173348726..173349432,3	MCF-7	breast:
13	chr2:173036864..173037750-chr2:173291670..173292854,3	MCF-7	breast:
14	chr2:173021199..173024661-chr2:173027995..173030782,3	K562	blood:
15	chr2:173037237..173037821-chr2:173330026..173330968,2	MCF-7	breast:
16	chr2:173070300..173072714-chr2:173083425..173085764,2	MCF-7	breast:
17	chr2:173041440..173044413-chr2:173328538..173330490,2	MCF-7	breast:
18	chr2:173064966..173065861-chr2:173326898..173327413,2	K562	blood:
19	chr2:173064653..173066712-chr2:173068939..173071306,2	MCF-7	breast:
20	chr2:173061279..173063058-chr2:173066457..173068997,2	K562	blood:
21	chr2:173036872..173037875-chr2:173325699..173327479,12	MCF-7	breast:
22	chr2:173036862..173038555-chr2:173090305..173091655,7	MCF-7	breast:
23	chr2:173036888..173037854-chr2:173330096..173331085,8	K562	blood:
24	chr2:173036066..173038530-chr2:173327913..173329630,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091409	chromatin interactions
ENSG00000232788	chromatin interactions

Extended variants
information (count: 1662 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1662 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12617621	chr2:173028656-173028657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568287363	chr2:173028663-173028664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12620522	chr2:173028677-173028678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12614216	chr2:173028680-173028681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150908989	chr2:173028698-173028699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561915147	chr2:173028743-173028744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541175232	chr2:173028760-173028761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377042233	chr2:173028761-173028762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187463447	chr2:173028764-173028765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539062466	chr2:173028794-173028795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557391425	chr2:173028850-173028851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545005614	chr2:173028884-173028885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138514183	chr2:173028923-173028924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562132430	chr2:173028944-173028945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574210096	chr2:173028945-173028946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541340292	chr2:173028990-173028991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560013702	chr2:173029003-173029004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533328236	chr2:173029004-173029005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551806481	chr2:173029009-173029010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190791432	chr2:173029049-173029050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184030545	chr2:173029050-173029051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114589752	chr2:173029083-173029084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112848040	chr2:173029094-173029095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143834390	chr2:173029095-173029096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568142190	chr2:173029295-173029296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535664807	chr2:173029348-173029349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188776701	chr2:173029354-173029355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563830303	chr2:173029362-173029363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542694406	chr2:173029372-173029373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139122020	chr2:173029395-173029396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199992675	chr2:173029423-173029424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547340778	chr2:173029450-173029451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35374343	chr2:173029458-173029459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565647435	chr2:173029482-173029483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147244134	chr2:173029484-173029485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372026542	chr2:173029502-173029503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140857291	chr2:173029549-173029550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73014653	chr2:173029551-173029552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192543690	chr2:173029625-173029626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574124144	chr2:173029653-173029654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184420531	chr2:173029658-173029659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149794849	chr2:173029686-173029687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559753279	chr2:173029687-173029688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35494826	chr2:173029693-173029694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578250280	chr2:173029708-173029709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188161635	chr2:173029719-173029720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563659835	chr2:173029741-173029742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528174651	chr2:173029751-173029752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531472283	chr2:173029783-173029784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75459842	chr2:173029805-173029806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173026400-173037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173032000-173032200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:173032000-173034600	Enhancers	Fetal Intestine Large	intestine
4	chr2:173032200-173033000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:173032400-173036800	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:173032800-173033200	Enhancers	Colonic Mucosa	Colon
7	chr2:173033000-173034600	Enhancers	Fetal Intestine Small	intestine
8	chr2:173033000-173034800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:173033200-173037000	Weak transcription	Colonic Mucosa	Colon
10	chr2:173033600-173033800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173033600-173034000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:173033600-173034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173033600-173034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:173033800-173034000	Enhancers	Stomach Mucosa	stomach
15	chr2:173033800-173034800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:173034000-173034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:173034000-173034400	Enhancers	HSMMtube	muscle
18	chr2:173034000-173034400	Enhancers	Osteobl	bone
19	chr2:173034000-173037400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:173034200-173034400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:173034200-173036800	Weak transcription	Stomach Mucosa	stomach
22	chr2:173034400-173034600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:173034400-173034600	Enhancers	Pancreas	Pancrea
24	chr2:173034400-173036800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173034400-173037400	Weak transcription	HSMMtube	muscle
26	chr2:173034600-173036600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:173034600-173036600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:173034600-173036800	Weak transcription	Pancreas	Pancrea
29	chr2:173034800-173035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:173034800-173036800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:173035000-173037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:173035200-173035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:173035400-173035600	Enhancers	Brain Germinal Matrix	brain
34	chr2:173035800-173036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:173036400-173036600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:173036400-173036600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:173036600-173036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:173036600-173036800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr2:173036600-173036800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:173036600-173036800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:173036600-173036800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:173036600-173036800	Enhancers	Fetal Intestine Large	intestine
43	chr2:173036600-173036800	Enhancers	NHEK	skin
44	chr2:173036600-173037000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr2:173036600-173037000	Enhancers	Fetal Intestine Small	intestine
46	chr2:173036600-173037200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:173036600-173037200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:173036800-173037000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:173036800-173037000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr2:173036800-173037000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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