Variant report

Variant	esv3444508
Chromosome Location	chr8:57963956-57969018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:57962948..57965572-chr8:57969601..57972127,2	K562	blood:
2	chr8:57965882..57968408-chr8:57971486..57974461,2	K562	blood:
3	chr8:57958323..57960463-chr8:57966619..57968564,2	MCF-7	breast:
4	chr8:57905480..57907391-chr8:57963038..57964617,2	MCF-7	breast:
5	chr8:57966902..57969878-chr8:57971450..57973564,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHCHD7-2	chr8:57965315-57965702	XLOC_006804

Variant related genes	Relation type
ENSG00000104331	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570211549	chr8:57963968-57963969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535706917	chr8:57963972-57963973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555409689	chr8:57963980-57963981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565803505	chr8:57963987-57963988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534552295	chr8:57964002-57964003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557797806	chr8:57964026-57964027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143287690	chr8:57964039-57964040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543679379	chr8:57964050-57964051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189714153	chr8:57964054-57964055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181339076	chr8:57964077-57964078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573746079	chr8:57964079-57964080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186127277	chr8:57964108-57964109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148335320	chr8:57964162-57964163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78594117	chr8:57964185-57964186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541167126	chr8:57964187-57964188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113949485	chr8:57964224-57964225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368527513	chr8:57964225-57964226	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564135121	chr8:57964234-57964235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141726217	chr8:57964290-57964291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77588636	chr8:57964317-57964318	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189699054	chr8:57964330-57964331	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115991423	chr8:57964339-57964340	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11996260	chr8:57964342-57964343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530946974	chr8:57964346-57964347	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372546558	chr8:57964350-57964351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534700511	chr8:57964360-57964361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10958519	chr8:57964388-57964389	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112952527	chr8:57964455-57964456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144805336	chr8:57964489-57964490	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181938209	chr8:57964530-57964531	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10958520	chr8:57964535-57964536	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs35445501	chr8:57964539-57964540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573853882	chr8:57964552-57964553	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542764642	chr8:57964556-57964557	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552738316	chr8:57964559-57964560	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138742378	chr8:57964608-57964609	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541106247	chr8:57964650-57964651	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565415533	chr8:57964651-57964652	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186352705	chr8:57964695-57964696	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577938265	chr8:57964835-57964836	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190962419	chr8:57964845-57964846	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141864663	chr8:57964917-57964918	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529570302	chr8:57964995-57964996	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1442123	chr8:57965003-57965004	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs146170256	chr8:57965022-57965023	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79775935	chr8:57965023-57965024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551461249	chr8:57965062-57965063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114101404	chr8:57965076-57965077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537004931	chr8:57965082-57965083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566852261	chr8:57965113-57965114	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57959800-57964800	Weak transcription	Liver	Liver
2	chr8:57964000-57964400	Enhancers	NHEK	skin
3	chr8:57964000-57965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:57964200-57964600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:57964200-57965600	Enhancers	HMEC	breast
6	chr8:57964400-57965200	Flanking Active TSS	NHEK	skin
7	chr8:57964400-57965400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:57964600-57965000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:57964600-57965600	Enhancers	Fetal Lung	lung
10	chr8:57964800-57965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:57964800-57965200	Enhancers	Stomach Mucosa	stomach
12	chr8:57964800-57965600	Enhancers	HepG2	liver
13	chr8:57964800-57967800	Enhancers	Liver	Liver
14	chr8:57965000-57965400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:57965000-57965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:57965000-57965600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:57965200-57965600	Enhancers	NHEK	skin
18	chr8:57965200-57965800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:57965200-57966800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:57965200-57967400	Weak transcription	Stomach Mucosa	stomach
21	chr8:57965400-57966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:57965600-57966600	Weak transcription	Fetal Lung	lung
23	chr8:57965600-57967200	Weak transcription	HepG2	liver
24	chr8:57965600-57967200	Weak transcription	NHEK	skin
25	chr8:57966600-57967600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:57966600-57968600	Enhancers	Fetal Lung	lung
27	chr8:57966800-57968000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:57967000-57967600	Enhancers	Fetal Brain Female	brain
29	chr8:57967200-57967600	Enhancers	NHEK	skin
30	chr8:57967200-57967800	Enhancers	Fetal Kidney	kidney
31	chr8:57967200-57968000	Enhancers	Adipose Nuclei	Adipose
32	chr8:57967200-57968000	Enhancers	Fetal Brain Male	brain
33	chr8:57967200-57968000	Enhancers	HepG2	liver
34	chr8:57967200-57968200	Enhancers	Fetal Muscle Leg	muscle
35	chr8:57967200-57968200	Enhancers	HUVEC	blood vessel
36	chr8:57967200-57968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:57967400-57967800	Enhancers	Stomach Mucosa	stomach
38	chr8:57967600-57967800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:57967600-57968200	Enhancers	Placenta	Placenta
40	chr8:57967800-57968000	Enhancers	Lung	lung
41	chr8:57967800-57968200	Flanking Active TSS	Liver	Liver
42	chr8:57967800-57968200	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:57967800-57970600	Weak transcription	Stomach Mucosa	stomach
44	chr8:57968000-57968200	Enhancers	Pancreas	Pancrea
45	chr8:57968000-57970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:57968000-57971200	Weak transcription	Adipose Nuclei	Adipose
47	chr8:57968000-57972600	Weak transcription	Fetal Brain Male	brain
48	chr8:57968000-57973800	Weak transcription	Lung	lung
49	chr8:57968200-57968800	Enhancers	Liver	Liver
50	chr8:57968200-57972200	Weak transcription	Placenta	Placenta

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