Variant report

Variant	esv2571437
Chromosome Location	chr15:52429466-52430919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:52429899-52430289	K562	blood:	n/a	n/a
2	BCL11A	chr15:52430007-52430320	GM12878	blood:	n/a	n/a
3	BHLHE40	chr15:52429890-52430266	K562	blood:	n/a	n/a
4	CBX3	chr15:52429834-52430305	K562	blood:	n/a	n/a
5	CCNT2	chr15:52429929-52430270	K562	blood:	n/a	n/a
6	CEBPB	chr15:52429952-52430205	K562	blood:	n/a	n/a
7	CEBPB	chr15:52429912-52430311	K562	blood:	n/a	n/a
8	CEBPB	chr15:52429884-52430315	K562	blood:	n/a	n/a
9	CEBPD	chr15:52429852-52430303	K562	blood:	n/a	n/a
10	CEBPD	chr15:52429843-52430368	K562	blood:	n/a	n/a
11	CHD2	chr15:52429880-52430003	HepG2	liver:	n/a	n/a
12	CTCF	chr15:52429897-52430298	K562	blood:	n/a	n/a
13	CTCF	chr15:52430140-52430290	GM12865	blood:	n/a	n/a
14	CTCF	chr15:52430833-52431007	IMR90	lung:	n/a	n/a
15	CTCF	chr15:52430800-52430950	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr15:52430160-52430310	HepG2	liver:	n/a	n/a
17	CTCF	chr15:52430120-52430270	GM12872	blood:	n/a	n/a
18	CTCF	chr15:52430080-52430230	K562	blood:	n/a	n/a
19	CTCF	chr15:52430100-52430250	GM12874	blood:	n/a	n/a
20	CTCF	chr15:52430100-52430250	GM12878	blood:	n/a	n/a
21	CTCF	chr15:52430720-52430870	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr15:52430856-52430908	LNCaP	prostate:	n/a	n/a
23	CTCF	chr15:52430720-52430870	HEK293	kidney:	n/a	n/a
24	CTCF	chr15:52430800-52430950	AG09309	skin:	n/a	n/a
25	CTCF	chr15:52430800-52430950	HMF	breast:	n/a	n/a
26	CTCF	chr15:52430840-52430990	HPF	lung:	n/a	n/a
27	CTCF	chr15:52430740-52430890	NHEK	skin:	n/a	n/a
28	CTCF	chr15:52430740-52430890	NB4	blood:	n/a	n/a
29	CTCF	chr15:52430140-52430290	GM12870	blood:	n/a	n/a
30	CTCF	chr15:52430760-52430910	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr15:52430100-52430250	K562	blood:	n/a	n/a
32	CTCF	chr15:52430820-52430970	HCFaa	heart:	n/a	n/a
33	CTCF	chr15:52430849-52430863	ProgFib	skin:	n/a	n/a
34	CTCF	chr15:52430140-52430290	GM12873	blood:	n/a	n/a
35	CTCF	chr15:52430843-52430863	GM12878	blood:	n/a	n/a
36	CTCF	chr15:52430100-52430250	GM12864	blood:	n/a	n/a
37	CTCF	chr15:52430760-52430910	MCF-7	breast:	n/a	n/a
38	CTCF	chr15:52430760-52430910	AG04449	skin:	n/a	n/a
39	CTCF	chr15:52430800-52430950	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr15:52430760-52430910	AG09319	gingival:	n/a	n/a
41	CTCF	chr15:52430140-52430290	GM12875	blood:	n/a	n/a
42	CTCF	chr15:52430760-52430910	HMF	breast:	n/a	n/a
43	CTCF	chr15:52430760-52430910	AG10803	skin:	n/a	n/a
44	CTCF	chr15:52430760-52430910	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr15:52430800-52430950	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr15:52430780-52430930	AG04450	lung:	n/a	n/a
47	CTCF	chr15:52430780-52430930	BJ	skin:	n/a	n/a
48	CTCF	chr15:52430842-52430914	LNCaP	prostate:	n/a	n/a
49	CTCF	chr15:52430780-52430930	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:52430800-52430950	NHDF-neo	bronchial:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52263277..52265007-chr15:52427883..52430038,2	MCF-7	breast:
2	chr15:52418771..52421599-chr15:52429472..52431548,2	MCF-7	breast:
3	chr15:52371129..52371827-chr15:52430855..52431660,3	MCF-7	breast:
4	chr15:52262407..52265136-chr15:52430706..52432521,2	MCF-7	breast:
5	chr15:52309643..52312109-chr15:52424380..52429568,4	MCF-7	breast:
6	chr15:52310998..52312915-chr15:52428801..52431088,2	MCF-7	breast:
7	chr15:52312303..52314169-chr15:52430876..52432947,2	K562	blood:
8	chr15:52309759..52313480-chr15:52429073..52432426,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK6-6	chr15:52430625-52430804	ENSG00000259709.1

No data

Variant related genes	Relation type
ENSG00000259709	TF binding region
GNB5	TF binding region
ENSG00000166477	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000069966	chromatin interactions
ENSG00000259438	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140416317	chr15:52429492-52429493	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs73402879	chr15:52429541-52429542	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543601236	chr15:52429556-52429557	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs554946971	chr15:52429604-52429605	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs576292918	chr15:52429605-52429606	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs182022957	chr15:52429614-52429615	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs142044974	chr15:52429646-52429647	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs532251690	chr15:52429741-52429742	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs540630281	chr15:52429743-52429744	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs558927927	chr15:52429770-52429771	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs10518677	chr15:52429773-52429774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549259139	chr15:52429823-52429824	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs150719008	chr15:52429834-52429835	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs531769862	chr15:52429903-52429904	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs550373817	chr15:52429916-52429917	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs3829469	chr15:52429923-52429924	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186359185	chr15:52429924-52429925	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs201783524	chr15:52429936-52429937	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs577153434	chr15:52429959-52429960	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs538299770	chr15:52429960-52429961	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs566073128	chr15:52429979-52429980	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs375922201	chr15:52429986-52429987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs536684586	chr15:52430014-52430015	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs554888486	chr15:52430019-52430020	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs78900620	chr15:52430032-52430033	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs190908376	chr15:52430049-52430050	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs371525639	chr15:52430075-52430076	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs139944643	chr15:52430086-52430087	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs576817400	chr15:52430091-52430092	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs552624585	chr15:52430102-52430103	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs146845755	chr15:52430125-52430126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs78944551	chr15:52430126-52430127	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs574081870	chr15:52430177-52430178	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs140678468	chr15:52430178-52430179	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs561219719	chr15:52430184-52430185	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs532045560	chr15:52430219-52430220	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs144278396	chr15:52430249-52430250	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs559430661	chr15:52430287-52430288	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs556683597	chr15:52430297-52430298	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs565476121	chr15:52430326-52430327	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs146567538	chr15:52430409-52430410	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs182338443	chr15:52430425-52430426	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs566211948	chr15:52430430-52430431	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs149170938	chr15:52430460-52430461	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs185907474	chr15:52430483-52430484	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs569927262	chr15:52430494-52430495	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs537355439	chr15:52430511-52430512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs558625867	chr15:52430537-52430538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs199780075	chr15:52430582-52430583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs191377927	chr15:52430583-52430584	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52407600-52441600	Weak transcription	Fetal Lung	lung
2	chr15:52407800-52440400	Weak transcription	Brain Substantia Nigra	brain
3	chr15:52410200-52441600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:52410600-52441400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:52412000-52441200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:52412200-52436000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:52413600-52431800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:52416000-52432800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:52416200-52431600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:52417000-52436000	Weak transcription	Lung	lung
11	chr15:52417200-52431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:52417200-52431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:52417200-52436200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:52417400-52431800	Weak transcription	HMEC	breast
15	chr15:52417400-52432000	Weak transcription	NHDF-Ad	bronchial
16	chr15:52417600-52435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:52417800-52431800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:52420400-52433600	Strong transcription	Ovary	ovary
19	chr15:52421800-52431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:52422600-52431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:52422600-52457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:52423000-52436800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:52423000-52458200	Weak transcription	Dnd41	blood
24	chr15:52423600-52431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:52424000-52441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:52424200-52430400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:52424600-52432400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:52425000-52430000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:52425000-52430400	Enhancers	Pancreas	Pancrea
30	chr15:52425200-52429600	Enhancers	HepG2	liver
31	chr15:52425600-52432400	Enhancers	Liver	Liver
32	chr15:52425800-52430000	Enhancers	Small Intestine	intestine
33	chr15:52425800-52432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:52425800-52435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:52426000-52430200	Enhancers	Fetal Intestine Small	intestine
36	chr15:52426600-52430000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr15:52426800-52430200	Enhancers	Colonic Mucosa	Colon
38	chr15:52426800-52430200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:52426800-52430400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr15:52426800-52432200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:52427200-52430400	Enhancers	Placenta	Placenta
42	chr15:52427400-52430200	Enhancers	Fetal Thymus	thymus
43	chr15:52427400-52430200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:52427400-52430400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr15:52427400-52430400	Strong transcription	NHEK	skin
46	chr15:52427400-52432200	Enhancers	Primary hematopoietic stem cells	blood
47	chr15:52427400-52432200	Weak transcription	Brain Angular Gyrus	brain
48	chr15:52427400-52441600	Weak transcription	Esophagus	oesophagus
49	chr15:52427600-52429600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:52427600-52429600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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