Variant report

Variant	nsv523274
Chromosome Location	chr15:59971635-59973563
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	chr15:59973137-59973461	A549	lung:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
2	CEBPB	chr15:59973250-59973339	H1-hESC	embryonic stem cell:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
3	CEBPB	chr15:59973106-59973461	HepG2	liver:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
4	CEBPB	chr15:59973096-59973435	IMR90	lung:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
5	CEBPB	chr15:59973113-59973406	K562	blood:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
6	CEBPB	chr15:59973210-59973313	Hela-S3	cervix:	n/a	chr15:59973264-59973277 chr15:59973265-59973276 chr15:59973264-59973277 chr15:59973263-59973280
7	CTCF	chr15:59972720-59972870	A549	lung:	n/a	n/a
8	JUN	chr15:59973234-59973456	HepG2	liver:	n/a	chr15:59973373-59973383 chr15:59973374-59973382 chr15:59973262-59973275
9	JUND	chr15:59973231-59973463	HepG2	liver:	n/a	chr15:59973373-59973383 chr15:59973374-59973382 chr15:59973372-59973383
10	POLR2A	chr15:59973188-59973557	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:59972484-59973080	GM12892	blood:	n/a	n/a
12	POLR2A	chr15:59972542-59973011	K562	blood:	n/a	n/a
13	POLR2A	chr15:59973173-59973573	K562	blood:	n/a	n/a
14	POLR2A	chr15:59972164-59972969	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:59973300-59973419	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:59971970-59972043	K562	blood:	n/a	n/a
17	POLR2A	chr15:59972354-59972941	A549	lung:	n/a	n/a
18	POLR2A	chr15:59973215-59973597	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:59972617-59972934	GM12891	blood:	n/a	n/a
20	POLR2A	chr15:59972643-59972747	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:59972625-59972741	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:59973243-59973607	A549	lung:	n/a	n/a
23	POLR2A	chr15:59972577-59972972	K562	blood:	n/a	n/a
24	POLR2A	chr15:59972492-59972532	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:59972748-59972769	MCF-7	breast:	n/a	n/a
26	POLR2A	chr15:59973211-59973571	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:59972536-59973096	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:59972605-59973167	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:59972587-59972901	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:59972642-59972912	GM12891	blood:	n/a	n/a
31	POLR2A	chr15:59972448-59973488	K562	blood:	n/a	n/a
32	POLR2A	chr15:59973188-59973648	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:59972568-59973109	GM12892	blood:	n/a	n/a
34	POLR2A	chr15:59972531-59973150	GM12892	blood:	n/a	n/a
35	POLR2A	chr15:59972634-59972651	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:59973257-59973509	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:59972502-59973068	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:59972621-59972701	K562	blood:	n/a	n/a
39	POLR2A	chr15:59973190-59973562	K562	blood:	n/a	n/a
40	POLR2A	chr15:59972764-59972788	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59970781..59973494-chr15:59980091..59981802,2	MCF-7	breast:
2	chr15:59972912..59974867-chr15:60687293..60689870,2	MCF-7	breast:
3	chr15:59958616..59963871-chr15:59968752..59974672,6	K562	blood:

Variant related genes	Relation type
BNIP2	TF binding region
ENSG00000259238	chromatin interactions
ENSG00000140299	chromatin interactions
ENSG00000182718	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552032	chr15:59971635-59971636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373616198	chr15:59971644-59971645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577933598	chr15:59971693-59971694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544981984	chr15:59971703-59971704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563379314	chr15:59971726-59971727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142536562	chr15:59971757-59971758	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192279087	chr15:59971760-59971761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374374811	chr15:59971762-59971763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368591440	chr15:59971767-59971768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543545888	chr15:59971772-59971773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141152343	chr15:59971823-59971824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116737762	chr15:59971827-59971828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151020713	chr15:59971856-59971857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375898460	chr15:59971862-59971863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547141623	chr15:59971870-59971871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140880435	chr15:59971883-59971884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150154333	chr15:59971924-59971925	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371839034	chr15:59971929-59971930	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138595084	chr15:59971946-59971947	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181153215	chr15:59971952-59971953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371631088	chr15:59971996-59971997	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551387993	chr15:59971997-59971998	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375105361	chr15:59972018-59972019	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2307274	chr15:59972024-59972025	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549268490	chr15:59972075-59972076	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184072539	chr15:59972093-59972094	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534842648	chr15:59972099-59972100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs151008124	chr15:59972101-59972102	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142285162	chr15:59972118-59972119	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538786971	chr15:59972132-59972133	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556931648	chr15:59972138-59972139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs6151511	chr15:59972140-59972141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575235101	chr15:59972154-59972155	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542870410	chr15:59972192-59972193	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs188761733	chr15:59972299-59972300	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs373856422	chr15:59972353-59972354	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201802360	chr15:59972366-59972367	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs77442095	chr15:59972367-59972368	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs6151510	chr15:59972372-59972373	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540798482	chr15:59972375-59972376	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565371863	chr15:59972379-59972380	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530498240	chr15:59972402-59972403	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs369730203	chr15:59972404-59972405	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs199776931	chr15:59972421-59972422	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551505793	chr15:59972440-59972441	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141709697	chr15:59972465-59972466	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs376816163	chr15:59972477-59972478	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs145715333	chr15:59972481-59972482	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs6151509	chr15:59972487-59972488	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142802280	chr15:59972490-59972491	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59949800-59980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:59950400-59979600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:59951000-59978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:59951400-59972600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:59951400-59973600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr15:59951400-59973600	Strong transcription	HSMM	muscle
7	chr15:59951400-59975000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:59951400-59975200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:59951400-59975400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:59951400-59976000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:59951400-59978800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:59951600-59976400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr15:59951800-59975000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:59951800-59975600	Strong transcription	Primary B cells from cord blood	blood
15	chr15:59952000-59975600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:59952000-59976600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:59952000-59977800	Strong transcription	Hela-S3	cervix
18	chr15:59952200-59974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:59952200-59974800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr15:59952200-59975400	Strong transcription	Fetal Thymus	thymus
21	chr15:59952200-59975600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:59952200-59976400	Strong transcription	Placenta	Placenta
23	chr15:59952400-59974800	Strong transcription	Fetal Intestine Large	intestine
24	chr15:59952400-59975800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:59952400-59977400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:59952400-59978600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:59952600-59975600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:59952600-59976000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:59952600-59976800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:59952800-59977400	Strong transcription	Dnd41	blood
31	chr15:59954200-59973600	Strong transcription	A549	lung
32	chr15:59954200-59975200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:59955000-59974400	Strong transcription	Adipose Nuclei	Adipose
34	chr15:59955800-59974800	Strong transcription	Osteobl	bone
35	chr15:59956200-59974800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:59956200-59975600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:59956600-59975600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:59957000-59975600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:59957800-59974800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:59957800-59977200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:59959000-59974200	Strong transcription	HSMMtube	muscle
42	chr15:59959200-59974200	Strong transcription	NH-A	brain
43	chr15:59959200-59975000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:59959600-59975400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:59959800-59974000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:59959800-59975600	Strong transcription	GM12878-XiMat	blood
47	chr15:59960000-59974000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr15:59960000-59974400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr15:59960000-59974400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:59960000-59974400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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