Variant report

Variant	esv3370928
Chromosome Location	chr15:49567360-49571558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:49569132-49569327	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr15:49571484-49571786	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:49568604-49569021	H1-neurons	neurons:	n/a	n/a
4	STAT3	chr15:49568758-49568989	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49562115..49563825-chr15:49566654..49568505,2	K562	blood:
2	chr15:49570990..49574175-chr15:49575635..49579787,3	K562	blood:

Variant related genes	Relation type
GALK2	TF binding region
ENSG00000156958	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75963369	chr15:49567414-49567415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549682839	chr15:49567420-49567421	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190631301	chr15:49567426-49567427	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182920901	chr15:49567570-49567571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564521942	chr15:49567579-49567580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536966538	chr15:49567606-49567607	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187876674	chr15:49567706-49567707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540603114	chr15:49567719-49567720	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7176455	chr15:49567731-49567732	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs530008794	chr15:49567748-49567749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548452912	chr15:49567754-49567755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569653716	chr15:49567766-49567767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573176119	chr15:49567787-49567788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563424680	chr15:49567977-49567978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530636895	chr15:49568032-49568033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551948596	chr15:49568033-49568034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536620515	chr15:49568057-49568058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111884837	chr15:49568060-49568061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534350086	chr15:49568079-49568080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558713813	chr15:49568109-49568110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191718710	chr15:49568178-49568179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370477080	chr15:49568274-49568275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535742447	chr15:49568279-49568280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149906159	chr15:49568308-49568309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569075730	chr15:49568333-49568334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539944255	chr15:49568399-49568400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557998740	chr15:49568409-49568410	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs16962256	chr15:49568446-49568447	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142223733	chr15:49568506-49568507	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368260081	chr15:49568508-49568509	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs58706711	chr15:49568510-49568511	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76411574	chr15:49568511-49568512	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs398057669	chr15:49568516-49568517	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540311002	chr15:49568522-49568523	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144947086	chr15:49568543-49568544	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571611336	chr15:49568560-49568561	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs34378451	chr15:49568564-49568565	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187500394	chr15:49568572-49568573	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563485897	chr15:49568597-49568598	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs16962257	chr15:49568617-49568618	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545956812	chr15:49568635-49568636	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564060704	chr15:49568648-49568649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553874079	chr15:49568649-49568650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528179137	chr15:49568651-49568652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16962259	chr15:49568674-49568675	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567678632	chr15:49568720-49568721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368184600	chr15:49568757-49568758	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192156244	chr15:49568786-49568787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569512917	chr15:49568816-49568817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185402643	chr15:49568849-49568850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
2	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:49540000-49577600	Weak transcription	Small Intestine	intestine
8	chr15:49541600-49575000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:49541600-49595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:49543800-49574200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:49548800-49575800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:49549400-49575200	Weak transcription	Hela-S3	cervix
13	chr15:49551000-49574200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:49551000-49575400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:49554800-49575400	Weak transcription	Fetal Lung	lung
16	chr15:49557200-49611800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:49557800-49569600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:49557800-49575800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:49557800-49575800	Weak transcription	Fetal Stomach	stomach
20	chr15:49557800-49607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:49558000-49575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:49558000-49624400	Weak transcription	Esophagus	oesophagus
23	chr15:49558200-49611800	Weak transcription	Colonic Mucosa	Colon
24	chr15:49558400-49575800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:49558600-49568400	Weak transcription	Psoas Muscle	Psoas
26	chr15:49558600-49569000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr15:49558600-49574000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:49558600-49575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:49558800-49574000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:49558800-49575200	Weak transcription	Fetal Intestine Large	intestine
31	chr15:49559000-49574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:49559200-49581400	Weak transcription	Spleen	Spleen
33	chr15:49559600-49573800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:49559800-49574200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:49559800-49575200	Weak transcription	Primary B cells from cord blood	blood
36	chr15:49560000-49574000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr15:49560400-49568600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:49561000-49600800	Weak transcription	Pancreas	Pancrea
39	chr15:49561200-49575200	Weak transcription	Thymus	Thymus
40	chr15:49561600-49577800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:49562000-49595800	Weak transcription	HepG2	liver
42	chr15:49562200-49626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:49562800-49571200	Weak transcription	Placenta	Placenta
44	chr15:49563000-49568200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:49563000-49576000	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:49563200-49568400	Strong transcription	Primary T cells from cord blood	blood
47	chr15:49563400-49568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:49563400-49568400	Weak transcription	Brain Anterior Caudate	brain
49	chr15:49563400-49572400	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:49563400-49574200	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links