Variant report

Variant	esv3385504
Chromosome Location	chr15:42431860-42435758
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:42434292..42437430-chr15:42439714..42441557,3	MCF-7	breast:
2	chr15:42430104..42432134-chr15:42441613..42443649,2	K562	blood:
3	chr15:42430976..42436033-chr15:42436358..42441856,8	MCF-7	breast:
4	chr15:42434324..42436456-chr15:42448485..42450694,2	K562	blood:
5	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:
6	chr15:42434956..42437486-chr15:42447741..42449985,2	K562	blood:
7	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
8	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168907	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539560077	chr15:42431908-42431909	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555797489	chr15:42431913-42431914	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78959784	chr15:42431917-42431918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372173272	chr15:42431926-42431927	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541394320	chr15:42431935-42431936	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555653671	chr15:42431984-42431985	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371119641	chr15:42431992-42431993	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146852255	chr15:42431996-42431997	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572729452	chr15:42432036-42432037	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139210208	chr15:42432078-42432079	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564751032	chr15:42432116-42432117	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533354885	chr15:42432148-42432149	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543907840	chr15:42432158-42432159	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs16972745	chr15:42432159-42432160	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs635548	chr15:42432197-42432198	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs16972747	chr15:42432212-42432213	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375541745	chr15:42432280-42432281	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78749003	chr15:42432305-42432306	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372606728	chr15:42432343-42432344	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547365575	chr15:42432347-42432348	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs882691	chr15:42432355-42432356	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs116050863	chr15:42432394-42432395	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536271838	chr15:42432430-42432431	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143234968	chr15:42432443-42432444	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74720613	chr15:42432483-42432484	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535159743	chr15:42432494-42432495	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554975929	chr15:42432497-42432498	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111372636	chr15:42432509-42432510	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571946319	chr15:42432514-42432515	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184987159	chr15:42432545-42432546	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368847186	chr15:42432590-42432591	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578127190	chr15:42432604-42432605	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115615380	chr15:42432641-42432642	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563789212	chr15:42432644-42432645	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78414765	chr15:42432695-42432696	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189370521	chr15:42432696-42432697	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537592834	chr15:42432698-42432699	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559738116	chr15:42432723-42432724	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528433465	chr15:42432736-42432737	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547671762	chr15:42432851-42432852	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570625015	chr15:42432857-42432858	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192779473	chr15:42432942-42432943	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528628648	chr15:42432972-42432973	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34451150	chr15:42432989-42432990	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113141653	chr15:42432990-42432991	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569489016	chr15:42433053-42433054	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78050246	chr15:42433080-42433081	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528947819	chr15:42433109-42433110	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147366469	chr15:42433154-42433155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72703015	chr15:42433181-42433182	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42425200-42435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42429800-42433200	Enhancers	HepG2	liver
4	chr15:42430600-42432800	Enhancers	Stomach Mucosa	stomach
5	chr15:42430600-42433400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr15:42431200-42432400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:42431600-42432200	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr15:42431600-42432800	Enhancers	K562	blood
9	chr15:42431600-42433200	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:42431600-42433400	Enhancers	Colonic Mucosa	Colon
11	chr15:42431600-42435000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr15:42431800-42432200	Enhancers	Esophagus	oesophagus
13	chr15:42431800-42432200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr15:42431800-42433000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr15:42432000-42432200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:42432000-42432200	Enhancers	Gastric	stomach
17	chr15:42432200-42433200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr15:42432200-42433800	Weak transcription	Esophagus	oesophagus
19	chr15:42432400-42433400	Weak transcription	Gastric	stomach
20	chr15:42432800-42433000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:42432800-42433200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:42432800-42434400	Weak transcription	Stomach Mucosa	stomach
23	chr15:42433000-42434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:42433000-42439200	Weak transcription	Spleen	Spleen
25	chr15:42433200-42433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:42433200-42433600	Genic enhancers	Duodenum Mucosa	Duodenum
27	chr15:42433200-42434000	Bivalent Enhancer	HepG2	liver
28	chr15:42433200-42434800	Genic enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:42433400-42433800	Enhancers	Gastric	stomach
30	chr15:42433400-42434000	Weak transcription	Colonic Mucosa	Colon
31	chr15:42433400-42434200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:42433400-42435000	Strong transcription	Fetal Intestine Small	intestine
33	chr15:42433600-42434400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:42433800-42434600	Strong transcription	Esophagus	oesophagus
35	chr15:42433800-42442800	Weak transcription	Gastric	stomach
36	chr15:42434000-42434200	Genic enhancers	Colonic Mucosa	Colon
37	chr15:42434000-42434400	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr15:42434200-42435000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:42434200-42435200	Enhancers	Colonic Mucosa	Colon
40	chr15:42434400-42434600	Bivalent Enhancer	HepG2	liver
41	chr15:42434400-42435000	Enhancers	Duodenum Mucosa	Duodenum
42	chr15:42434400-42435800	Enhancers	Stomach Mucosa	stomach
43	chr15:42434600-42442600	Weak transcription	Esophagus	oesophagus
44	chr15:42434800-42435000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr15:42435000-42435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:42435000-42435800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:42435000-42436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:42435000-42438400	Weak transcription	Fetal Intestine Small	intestine
49	chr15:42435000-42440600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:42435000-42442400	Weak transcription	Rectal Mucosa Donor 29	rectum

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