Variant report

Variant	esv3362684
Chromosome Location	chr15:57612418-57612613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57592002..57594571-chr15:57612516..57615928,4	K562	blood:
2	chr15:57022824..57025649-chr15:57612283..57614634,3	K562	blood:
3	chr15:57022824..57027100-chr15:57611258..57614634,3	K562	blood:
4	chr15:57596677..57601983-chr15:57611239..57618411,9	K562	blood:

Variant related genes	Relation type
ENSG00000137871	chromatin interactions
ENSG00000247982	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2591055	chr15:57612424-57612425	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527490041	chr15:57612442-57612443	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375955656	chr15:57612449-57612450	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551309864	chr15:57612456-57612457	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11633558	chr15:57612463-57612464	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147806152	chr15:57612472-57612473	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10673223	chr15:57612473-57612474	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368554534	chr15:57612476-57612477	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397736345	chr15:57612477-57612478	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111759290	chr15:57612485-57612486	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529334195	chr15:57612487-57612488	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186048698	chr15:57612511-57612512	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10673224	chr15:57612512-57612513	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371456319	chr15:57612515-57612516	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397714600	chr15:57612516-57612517	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549420702	chr15:57612519-57612520	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76397938	chr15:57612524-57612525	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144486191	chr15:57612536-57612537	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188431905	chr15:57612545-57612546	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs28485525	chr15:57612547-57612548	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191716093	chr15:57612548-57612549	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201077076	chr15:57612558-57612559	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	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

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57599400-57612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:57599600-57612800	Weak transcription	GM12878-XiMat	blood
3	chr15:57599600-57614200	Weak transcription	Small Intestine	intestine
4	chr15:57599600-57617800	Weak transcription	Spleen	Spleen
5	chr15:57602800-57617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:57604200-57612800	Weak transcription	Primary B cells from cord blood	blood
7	chr15:57605000-57619400	Weak transcription	Pancreas	Pancrea
8	chr15:57605600-57612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:57605600-57614400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:57611000-57613000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:57611200-57615000	Enhancers	Fetal Muscle Trunk	muscle
12	chr15:57611400-57612600	Weak transcription	Stomach Mucosa	stomach
13	chr15:57611400-57612800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:57611400-57616400	Enhancers	Fetal Muscle Leg	muscle
15	chr15:57611400-57620600	Enhancers	Fetal Intestine Small	intestine
16	chr15:57611800-57613000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:57611800-57613000	Enhancers	Fetal Stomach	stomach
18	chr15:57611800-57613200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:57611800-57613200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:57612000-57612600	Enhancers	Colonic Mucosa	Colon
21	chr15:57612000-57613000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:57612000-57614000	Enhancers	K562	blood
23	chr15:57612000-57615800	Enhancers	Fetal Intestine Large	intestine
24	chr15:57612200-57613200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:57612400-57612600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:57612400-57612600	Enhancers	Fetal Brain Male	brain
27	chr15:57612400-57612800	Enhancers	Adipose Nuclei	Adipose
28	chr15:57612400-57612800	Enhancers	Fetal Heart	heart
29	chr15:57612400-57612800	Enhancers	Fetal Lung	lung
30	chr15:57612400-57613000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr15:57612400-57613000	Enhancers	Esophagus	oesophagus
32	chr15:57612400-57613000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:57612400-57613000	Enhancers	Right Atrium	heart
34	chr15:57612400-57613200	Enhancers	Ovary	ovary
35	chr15:57612400-57613200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr15:57612400-57613400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:57612400-57613600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:57612400-57613600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr15:57612400-57617800	Enhancers	Fetal Thymus	thymus
40	chr15:57612600-57612800	Enhancers	Lung	lung
41	chr15:57612600-57612800	Enhancers	NH-A	brain
42	chr15:57612600-57613000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr15:57612600-57613000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr15:57612600-57613200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:57612600-57613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr15:57612600-57613200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:57612600-57613200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:57612600-57613400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:57612600-57613400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:57612600-57613600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links