Variant report

Variant	esv3421913
Chromosome Location	chr8:126207819-126222864
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126222391..126224423-chr8:126237932..126240192,2	MCF-7	breast:
2	chr8:126215979..126218498-chr8:126219244..126222199,2	K562	blood:
3	chr8:126196220..126198345-chr8:126215169..126217296,2	K562	blood:
4	chr8:126213750..126216257-chr8:126224237..126226330,2	MCF-7	breast:
5	chr8:126220533..126222567-chr8:126439831..126443470,5	MCF-7	breast:
6	chr8:126216916..126218455-chr8:126221973..126223868,2	K562	blood:
7	chr8:126213738..126215975-chr8:126217898..126220188,2	K562	blood:
8	chr8:126214703..126218445-chr8:126219117..126223784,5	MCF-7	breast:
9	chr8:126216916..126218455-chr8:126221973..126223868,2	K562	blood:
10	chr8:126213738..126215975-chr8:126217898..126220188,2	K562	blood:
11	chr8:126218358..126220845-chr8:126354499..126357060,2	K562	blood:
12	chr8:126214703..126218445-chr8:126219117..126223784,5	MCF-7	breast:
13	chr8:126204575..126206211-chr8:126217254..126218910,2	K562	blood:
14	chr8:126215979..126218498-chr8:126219244..126222199,2	K562	blood:
15	chr8:126217433..126218974-chr8:126675802..126677421,2	MCF-7	breast:
16	chr8:126222075..126223796-chr8:126224521..126227219,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577787930	chr8:126207845-126207846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77794773	chr8:126207865-126207866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112643346	chr8:126207884-126207885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546718131	chr8:126207916-126207917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566853784	chr8:126207919-126207920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148094571	chr8:126207937-126207938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192086108	chr8:126207941-126207942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568973804	chr8:126207944-126207945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538074096	chr8:126207945-126207946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367567405	chr8:126207947-126207948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557912686	chr8:126207987-126207988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577953780	chr8:126208061-126208062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141884432	chr8:126208097-126208098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553535133	chr8:126208102-126208103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34687223	chr8:126208122-126208123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398009772	chr8:126208146-126208147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573586611	chr8:126208155-126208156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531365570	chr8:126208160-126208161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200213171	chr8:126208191-126208192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184137133	chr8:126208211-126208212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563281614	chr8:126208236-126208237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2384860	chr8:126208255-126208256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2384861	chr8:126208267-126208268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2384862	chr8:126208271-126208272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189503770	chr8:126208323-126208324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150230269	chr8:126208345-126208346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138586812	chr8:126208390-126208391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545257461	chr8:126208404-126208405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565062449	chr8:126208412-126208413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372300605	chr8:126208421-126208422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181006382	chr8:126208426-126208427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111426462	chr8:126208434-126208435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139441246	chr8:126208435-126208436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542174085	chr8:126208445-126208446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530758061	chr8:126208447-126208448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560983048	chr8:126208460-126208461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184195817	chr8:126208492-126208493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542908033	chr8:126208518-126208519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111378826	chr8:126208584-126208585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190697785	chr8:126208601-126208602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76115358	chr8:126208611-126208612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548935938	chr8:126208633-126208634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560983005	chr8:126208636-126208637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77270247	chr8:126208639-126208640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78162782	chr8:126208666-126208667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80133686	chr8:126208667-126208668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74995245	chr8:126208669-126208670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112480337	chr8:126208671-126208672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75664530	chr8:126208687-126208688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79490897	chr8:126208689-126208690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Glioma	20126413	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
5	chr8:126194200-126226000	Weak transcription	Ovary	ovary
6	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:126201000-126217000	Weak transcription	Hela-S3	cervix
9	chr8:126201200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:126201600-126213200	Weak transcription	Fetal Lung	lung
13	chr8:126201600-126216400	Weak transcription	Aorta	Aorta
14	chr8:126201600-126217000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:126201600-126218000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:126201600-126218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:126201600-126224000	Weak transcription	Liver	Liver
18	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:126201800-126213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:126201800-126226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:126201800-126230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:126202000-126213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
26	chr8:126202400-126216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:126202600-126213800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
29	chr8:126202800-126219800	Weak transcription	Left Ventricle	heart
30	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:126203000-126219000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:126203800-126214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:126204200-126213800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:126204200-126218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:126204200-126219000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:126204200-126226400	Weak transcription	Pancreas	Pancrea
39	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:126204400-126216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:126204400-126224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:126204400-126225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
46	chr8:126204600-126222000	Weak transcription	HepG2	liver
47	chr8:126204800-126219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:126205000-126216600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:126205200-126209200	Weak transcription	HUVEC	blood vessel
50	chr8:126205200-126211000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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