Variant report

Variant	esv1846743
Chromosome Location	chr5:127162576-127173217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:
2	chr5:127163372..127165051-chr5:127202469..127205145,2	MCF-7	breast:
3	chr5:127150471..127153155-chr5:127164989..127167539,2	K562	blood:
4	chr5:127160237..127162603-chr5:127205633..127207366,2	MCF-7	breast:
5	chr5:127172554..127175217-chr5:127418904..127421266,2	K562	blood:

Variant related genes	Relation type
ENSG00000064651	chromatin interactions

Extended variants
information (count: 359 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs245184	chr5:127162576-127162577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575568839	chr5:127162640-127162641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200595373	chr5:127162653-127162654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191412356	chr5:127162785-127162786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544197895	chr5:127162799-127162800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539441479	chr5:127162828-127162829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376617619	chr5:127162865-127162866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183659859	chr5:127162898-127162899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188933356	chr5:127162899-127162900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149987719	chr5:127162920-127162921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535752303	chr5:127162968-127162969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145182110	chr5:127163002-127163003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572325580	chr5:127163004-127163005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534918295	chr5:127163009-127163010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113734219	chr5:127163014-127163015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553572098	chr5:127163060-127163061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576914880	chr5:127163075-127163076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193100150	chr5:127163099-127163100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562507375	chr5:127163227-127163228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576364997	chr5:127163249-127163250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542162705	chr5:127163294-127163295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76259556	chr5:127163300-127163301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113379133	chr5:127163307-127163308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527466783	chr5:127163319-127163320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566451616	chr5:127163380-127163381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564420799	chr5:127163435-127163436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533470023	chr5:127163453-127163454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185119635	chr5:127163489-127163490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569728050	chr5:127163493-127163494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529515330	chr5:127163499-127163500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34651162	chr5:127163516-127163517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190146163	chr5:127163548-127163549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566068020	chr5:127163549-127163550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148698203	chr5:127163558-127163559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142219429	chr5:127163583-127163584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570408582	chr5:127163604-127163605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539530065	chr5:127163649-127163650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181267714	chr5:127163661-127163662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576129914	chr5:127163727-127163728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541880599	chr5:127163742-127163743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371135106	chr5:127163757-127163758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555689433	chr5:127163759-127163760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146739318	chr5:127163760-127163761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59036040	chr5:127163770-127163771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184295521	chr5:127163788-127163789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533232425	chr5:127163799-127163800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543916857	chr5:127163830-127163831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145404987	chr5:127163831-127163832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188743841	chr5:127163902-127163903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10491252	chr5:127163908-127163909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127157600-127166000	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:127158000-127169800	Weak transcription	A549	lung
3	chr5:127160000-127166000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:127160600-127162800	Weak transcription	Fetal Kidney	kidney
5	chr5:127161200-127163600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:127161200-127163600	Enhancers	HSMM	muscle
7	chr5:127161200-127169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127161200-127170400	Weak transcription	Ovary	ovary
9	chr5:127161800-127169600	Weak transcription	NHDF-Ad	bronchial
10	chr5:127162000-127164600	Enhancers	HSMMtube	muscle
11	chr5:127162200-127163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:127162800-127163000	Enhancers	Fetal Kidney	kidney
13	chr5:127162800-127163000	Enhancers	NHLF	lung
14	chr5:127162800-127165800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:127163000-127163400	Weak transcription	Fetal Kidney	kidney
16	chr5:127163400-127163600	Enhancers	Fetal Kidney	kidney
17	chr5:127163600-127163800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:127163600-127170000	Weak transcription	Fetal Kidney	kidney
19	chr5:127164600-127165800	Weak transcription	HSMMtube	muscle
20	chr5:127165800-127166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:127165800-127166200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr5:127165800-127166400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:127165800-127166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:127165800-127166400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:127165800-127166400	Enhancers	Psoas Muscle	Psoas
26	chr5:127165800-127167200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:127165800-127167200	Enhancers	HSMMtube	muscle
28	chr5:127166000-127166400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:127166000-127166400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:127166000-127166400	Enhancers	Colon Smooth Muscle	Colon
31	chr5:127166000-127166400	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:127166000-127167200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:127166200-127169600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:127166200-127169800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:127166400-127168000	Weak transcription	Psoas Muscle	Psoas
36	chr5:127166400-127169600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:127166400-127169600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:127166400-127169800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:127167200-127169200	Weak transcription	HSMMtube	muscle
40	chr5:127168000-127168200	Enhancers	Psoas Muscle	Psoas
41	chr5:127169200-127169600	Enhancers	HSMMtube	muscle
42	chr5:127169200-127170200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:127169600-127169800	Enhancers	Fetal Intestine Large	intestine
44	chr5:127169600-127170000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:127169600-127170000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr5:127169600-127170000	Enhancers	Rectal Smooth Muscle	rectum
47	chr5:127169600-127170000	Flanking Active TSS	HSMMtube	muscle
48	chr5:127169600-127170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:127169600-127170200	Enhancers	NHDF-Ad	bronchial
50	chr5:127169600-127170400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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