Variant report

Variant	esv1812418
Chromosome Location	chr8:68158038-68161638
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	chr8:68151600..68153614-chr8:68161063..68163903,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188133310	chr8:68158168-68158169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577899755	chr8:68158201-68158202	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540030888	chr8:68158257-68158258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568366867	chr8:68158262-68158263	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181932203	chr8:68158307-68158308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535754187	chr8:68158353-68158354	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184905918	chr8:68158395-68158396	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146955394	chr8:68158406-68158407	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531600396	chr8:68158431-68158432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545419469	chr8:68158494-68158495	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189205839	chr8:68158536-68158537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371270567	chr8:68158559-68158560	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527959776	chr8:68158570-68158571	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548129014	chr8:68158578-68158579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567821152	chr8:68158595-68158596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530323071	chr8:68158649-68158650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181646393	chr8:68158675-68158676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569010390	chr8:68158774-68158775	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537426629	chr8:68158775-68158776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545241682	chr8:68158797-68158798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557674651	chr8:68158802-68158803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186852460	chr8:68158812-68158813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571176635	chr8:68158813-68158814	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191242936	chr8:68158822-68158823	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368154080	chr8:68158878-68158879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569546000	chr8:68158887-68158888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181115355	chr8:68158898-68158899	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185084508	chr8:68158913-68158914	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553659415	chr8:68158949-68158950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189691887	chr8:68159034-68159035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535263975	chr8:68159061-68159062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118202520	chr8:68159083-68159084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542455011	chr8:68159108-68159109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556223937	chr8:68159122-68159123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183418158	chr8:68159202-68159203	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187712046	chr8:68159264-68159265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192007727	chr8:68159271-68159272	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527696022	chr8:68159341-68159342	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542568516	chr8:68159360-68159361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561612101	chr8:68159368-68159369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137972552	chr8:68159397-68159398	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113702048	chr8:68159407-68159408	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375564902	chr8:68159433-68159434	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568835108	chr8:68159445-68159446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558351221	chr8:68159522-68159523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531407223	chr8:68159527-68159528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75814311	chr8:68159531-68159532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183532085	chr8:68159598-68159599	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576890232	chr8:68159754-68159755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79942906	chr8:68159770-68159771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68103600-68158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:68104800-68159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:68105600-68158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:68139000-68178000	Weak transcription	Small Intestine	intestine
11	chr8:68139600-68161400	Weak transcription	Fetal Brain Male	brain
12	chr8:68139800-68162200	Weak transcription	A549	lung
13	chr8:68142000-68158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:68143800-68158600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:68146000-68168200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:68149600-68167200	Weak transcription	Fetal Heart	heart
17	chr8:68149800-68173000	Weak transcription	Psoas Muscle	Psoas
18	chr8:68150600-68161600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:68151200-68159800	Weak transcription	HSMMtube	muscle
20	chr8:68151200-68161000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:68151200-68161000	Weak transcription	HSMM	muscle
22	chr8:68151200-68161000	Weak transcription	NH-A	brain
23	chr8:68153600-68159400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:68153600-68181000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:68153800-68159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:68153800-68168400	Strong transcription	Fetal Thymus	thymus
27	chr8:68154000-68158800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:68154000-68158800	Strong transcription	Dnd41	blood
29	chr8:68154000-68170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:68154800-68159800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:68154800-68162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:68154800-68175600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:68155000-68161200	Weak transcription	GM12878-XiMat	blood
34	chr8:68155000-68179200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:68155200-68158200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:68155200-68159400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:68155200-68159600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:68155200-68162200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:68155200-68172400	Weak transcription	Stomach Mucosa	stomach
40	chr8:68155200-68173600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:68155400-68160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:68155400-68161400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:68155400-68161600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:68155400-68161600	Weak transcription	Left Ventricle	heart
45	chr8:68155400-68162000	Weak transcription	Pancreas	Pancrea
46	chr8:68155400-68162200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:68155400-68167400	Weak transcription	Brain Angular Gyrus	brain
48	chr8:68155600-68158200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:68155600-68159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:68155600-68159600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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