Variant report

Variant	esv3371789
Chromosome Location	chr8:125698371-125702569
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125699774..125701577-chr8:125704384..125706753,2	K562	blood:
2	chr8:125697510..125699727-chr8:125700656..125702402,2	MCF-7	breast:
3	chr8:125695412..125697895-chr8:125698374..125700260,3	K562	blood:
4	chr8:125683953..125685840-chr8:125696381..125699279,2	K562	blood:
5	chr8:125691541..125693410-chr8:125699337..125702160,2	K562	blood:
6	chr8:125698153..125699926-chr8:125701399..125703514,2	MCF-7	breast:
7	chr8:125653538..125655457-chr8:125699736..125702279,2	K562	blood:
8	chr8:125698153..125699926-chr8:125701399..125703514,2	MCF-7	breast:
9	chr8:125700027..125702376-chr8:125709128..125711425,2	K562	blood:
10	chr8:125695281..125696989-chr8:125701339..125704256,2	MCF-7	breast:
11	chr8:125697510..125699727-chr8:125700656..125702402,2	MCF-7	breast:
12	chr8:125662479..125664337-chr8:125697312..125699450,2	MCF-7	breast:
13	chr8:125697915..125700956-chr8:125703472..125706654,3	K562	blood:
14	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170873	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551831484	chr8:125698389-125698390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565469534	chr8:125698438-125698439	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188192186	chr8:125698440-125698441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554318795	chr8:125698441-125698442	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568166787	chr8:125698449-125698450	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537313736	chr8:125698450-125698451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7844690	chr8:125698462-125698463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576383794	chr8:125698470-125698471	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545447887	chr8:125698502-125698503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538081164	chr8:125698503-125698504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559079370	chr8:125698510-125698511	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572537357	chr8:125698513-125698514	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116818740	chr8:125698514-125698515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75647536	chr8:125698574-125698575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs80312923	chr8:125698575-125698576	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138378070	chr8:125698592-125698593	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35566676	chr8:125698610-125698611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148372900	chr8:125698643-125698644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372429054	chr8:125698671-125698672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148826926	chr8:125698677-125698678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563852882	chr8:125698708-125698709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531963363	chr8:125698719-125698720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551718993	chr8:125698720-125698721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565356005	chr8:125698729-125698730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374725039	chr8:125698828-125698829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554068405	chr8:125698883-125698884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536374615	chr8:125698888-125698889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547893619	chr8:125699005-125699006	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367806776	chr8:125699029-125699030	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536897386	chr8:125699096-125699097	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557201044	chr8:125699097-125699098	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570690722	chr8:125699117-125699118	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143475563	chr8:125699148-125699149	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558964484	chr8:125699179-125699180	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554657720	chr8:125699184-125699185	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572480434	chr8:125699200-125699201	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541528452	chr8:125699257-125699258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572884977	chr8:125699266-125699267	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74575844	chr8:125699290-125699291	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76378044	chr8:125699324-125699325	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs3110532	chr8:125699348-125699349	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543688033	chr8:125699354-125699355	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369607829	chr8:125699357-125699358	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532635766	chr8:125699387-125699388	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114723942	chr8:125699433-125699434	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191864949	chr8:125699446-125699447	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528118359	chr8:125699454-125699455	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548265338	chr8:125699524-125699525	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561660282	chr8:125699532-125699533	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148014130	chr8:125699640-125699641	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Multiple myeloma	17550852	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125692600-125699200	Enhancers	Brain Germinal Matrix	brain
12	chr8:125692800-125699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125693200-125699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125694600-125701600	Enhancers	Fetal Stomach	stomach
17	chr8:125695000-125698400	Weak transcription	Spleen	Spleen
18	chr8:125695000-125699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:125695000-125699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:125695000-125699400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:125695000-125702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:125695000-125704800	Weak transcription	Gastric	stomach
23	chr8:125695200-125698600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:125695200-125700400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:125695800-125699600	Enhancers	Brain Substantia Nigra	brain
26	chr8:125696200-125698400	Weak transcription	Primary B cells from cord blood	blood
27	chr8:125696200-125700200	Weak transcription	Small Intestine	intestine
28	chr8:125696200-125700400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
30	chr8:125696400-125698800	Weak transcription	Fetal Brain Female	brain
31	chr8:125696400-125699200	Weak transcription	Right Ventricle	heart
32	chr8:125696600-125698400	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:125696600-125698600	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:125696600-125699200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:125696600-125699800	Weak transcription	HSMMtube	muscle
36	chr8:125696600-125700600	Weak transcription	NHEK	skin
37	chr8:125696800-125698400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:125696800-125698600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:125696800-125702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:125696800-125702800	Enhancers	Fetal Heart	heart
41	chr8:125697000-125698600	Weak transcription	HepG2	liver
42	chr8:125697000-125700200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:125697000-125700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:125697000-125701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:125697200-125698600	Weak transcription	Fetal Kidney	kidney
46	chr8:125697200-125700400	Enhancers	Fetal Brain Male	brain
47	chr8:125697200-125701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:125697600-125699600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:125697600-125699800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:125697600-125700400	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links