Variant report

Variant	esv3388331
Chromosome Location	chr15:56986210-56986721
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	POLR2A	chr15:56986450-56986580	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56985471..56987800-chr15:57023947..57025942,2	K562	blood:
2	chr15:56977163..56978891-chr15:56986559..56988342,2	K562	blood:

Variant related genes	Relation type
ZNF280D	TF binding region
ENSG00000137871	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12912666	chr15:56986245-56986246	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562858170	chr15:56986255-56986256	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531749065	chr15:56986269-56986270	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56957600	chr15:56986280-56986281	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565518982	chr15:56986286-56986287	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74015861	chr15:56986288-56986289	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550271843	chr15:56986313-56986314	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138848699	chr15:56986318-56986319	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529738810	chr15:56986341-56986342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569760261	chr15:56986432-56986433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569978836	chr15:56986453-56986454	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376254230	chr15:56986460-56986461	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369114233	chr15:56986493-56986494	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538781292	chr15:56986500-56986501	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567414081	chr15:56986526-56986527	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551716146	chr15:56986534-56986535	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558471282	chr15:56986536-56986537	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184546492	chr15:56986559-56986560	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140629540	chr15:56986630-56986631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35988620	chr15:56986647-56986648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554262370	chr15:56986652-56986653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573665201	chr15:56986654-56986655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568842751	chr15:56986704-56986705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56916600-56990800	Weak transcription	Pancreas	Pancrea
2	chr15:56917800-56990600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:56917800-56990600	Weak transcription	NHLF	lung
4	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
5	chr15:56924000-56990600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:56924000-56990800	Weak transcription	NHEK	skin
7	chr15:56928400-56996800	Weak transcription	Gastric	stomach
8	chr15:56937400-57000200	Weak transcription	Colonic Mucosa	Colon
9	chr15:56939200-56990800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:56945800-56990800	Weak transcription	Fetal Brain Male	brain
11	chr15:56946000-56990800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:56946200-56990800	Weak transcription	Right Ventricle	heart
13	chr15:56955800-56990600	Weak transcription	Esophagus	oesophagus
14	chr15:56958000-56990200	Weak transcription	A549	lung
15	chr15:56958200-56990200	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:56958400-56990600	Weak transcription	Lung	lung
17	chr15:56958400-56990800	Weak transcription	Brain Germinal Matrix	brain
18	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
19	chr15:56958600-56990600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:56959200-56990400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:56959200-56990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:56959200-56990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:56959200-56990600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:56959200-56992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:56960800-56992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:56961200-56990600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:56961200-56992200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:56965600-56990800	Weak transcription	K562	blood
29	chr15:56967000-56990800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:56967600-56990600	Weak transcription	Left Ventricle	heart
31	chr15:56968400-56990600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:56968400-56992000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:56968400-56992000	Weak transcription	HSMMtube	muscle
34	chr15:56968600-56990000	Weak transcription	NH-A	brain
35	chr15:56968800-56990000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:56968800-56990200	Weak transcription	Osteobl	bone
37	chr15:56969000-56990800	Weak transcription	HMEC	breast
38	chr15:56969400-56990200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:56969400-56990400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr15:56969400-56990800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:56969600-56990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:56969600-56990200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:56969800-56990200	Weak transcription	Primary B cells from cord blood	blood
44	chr15:56969800-56990600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:56969800-56990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:56969800-56990600	Weak transcription	Brain Angular Gyrus	brain
47	chr15:56969800-56990800	Weak transcription	HepG2	liver
48	chr15:56970400-56988800	Weak transcription	Liver	Liver
49	chr15:56970400-56990200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:56970600-56990600	Weak transcription	Psoas Muscle	Psoas

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