Variant report

Variant	esv3527746
Chromosome Location	chr15:82953847-83037345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1676)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1676 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:83001027-83001250	GM12878	blood:	n/a	n/a
2	BATF	chr15:83011645-83011979	GM12878	blood:	n/a	n/a
3	BATF	chr15:83023111-83024172	GM12878	blood:	n/a	n/a
4	BATF	chr15:83018215-83018412	GM12878	blood:	n/a	n/a
5	BATF	chr15:82994132-82994379	GM12878	blood:	n/a	n/a
6	BATF	chr15:82987021-82987376	GM12878	blood:	n/a	n/a
7	BATF	chr15:82993347-82993563	GM12878	blood:	n/a	n/a
8	BATF	chr15:83023136-83023728	GM12878	blood:	n/a	n/a
9	BATF	chr15:83034417-83034721	GM12878	blood:	n/a	n/a
10	BATF	chr15:83002141-83002500	GM12878	blood:	n/a	n/a
11	BATF	chr15:83026458-83026719	GM12878	blood:	n/a	n/a
12	BATF	chr15:82979173-82979491	GM12878	blood:	n/a	n/a
13	BATF	chr15:83007098-83007646	GM12878	blood:	n/a	n/a
14	BATF	chr15:83025619-83025832	GM12878	blood:	n/a	n/a
15	BATF	chr15:83025072-83025394	GM12878	blood:	n/a	n/a
16	BATF	chr15:83002651-83002988	GM12878	blood:	n/a	n/a
17	BATF	chr15:83025030-83025597	GM12878	blood:	n/a	n/a
18	BATF	chr15:82962463-82962706	GM12878	blood:	n/a	n/a
19	BATF	chr15:83003584-83003857	GM12878	blood:	n/a	chr15:83003796-83003806
20	BATF	chr15:83011627-83011929	GM12878	blood:	n/a	n/a
21	BATF	chr15:83024410-83024664	GM12878	blood:	n/a	n/a
22	BATF	chr15:83002686-83002927	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:82961608-82961945	GM12878	blood:	n/a	n/a
24	BCL11A	chr15:83025451-83025821	GM12878	blood:	n/a	n/a
25	BCL11A	chr15:83024364-83024610	GM12878	blood:	n/a	chr15:83024466-83024479
26	BCL11A	chr15:83002453-83002940	GM12878	blood:	n/a	chr15:83002549-83002558
27	BCL11A	chr15:83008055-83008268	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:83001997-83002424	GM12878	blood:	n/a	chr15:83002303-83002311
29	BCL11A	chr15:82987063-82987357	GM12878	blood:	n/a	n/a
30	BCL11A	chr15:82961581-82961994	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:82986506-82986789	GM12878	blood:	n/a	chr15:82986531-82986540
32	BCL11A	chr15:82964566-82964831	GM12878	blood:	n/a	chr15:82964693-82964702
33	BCL11A	chr15:83011743-83011928	GM12878	blood:	n/a	n/a
34	BCL11A	chr15:82986994-82987406	GM12878	blood:	n/a	n/a
35	BCL11A	chr15:83024331-83024698	GM12878	blood:	n/a	chr15:83024466-83024479
36	BCL11A	chr15:83001435-83001624	GM12878	blood:	n/a	n/a
37	BCL11A	chr15:83011675-83012022	GM12878	blood:	n/a	n/a
38	BCL11A	chr15:82986454-82986686	GM12878	blood:	n/a	chr15:82986531-82986540
39	BCL11A	chr15:83014472-83014683	GM12878	blood:	n/a	n/a
40	BCL11A	chr15:83018085-83018423	GM12878	blood:	n/a	n/a
41	BCL11A	chr15:83025059-83025427	GM12878	blood:	n/a	chr15:83025309-83025318
42	BCL11A	chr15:83025544-83025819	GM12878	blood:	n/a	n/a
43	BCL11A	chr15:82992632-82992843	GM12878	blood:	n/a	n/a
44	BCL11A	chr15:82987691-82987888	GM12878	blood:	n/a	n/a
45	BCL11A	chr15:83025006-83025351	GM12878	blood:	n/a	chr15:83025309-83025318
46	BCL11A	chr15:82979149-82979488	GM12878	blood:	n/a	n/a
47	BCL11A	chr15:83002611-83002941	GM12878	blood:	n/a	n/a
48	BCL11A	chr15:83002115-83002483	GM12878	blood:	n/a	chr15:83002303-83002311 chr15:83002442-83002455
49	BCL11A	chr15:83007507-83007698	GM12878	blood:	n/a	n/a
50	BCL11A	chr15:83023205-83024086	GM12878	blood:	n/a	chr15:83024033-83024041

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83002290-83002340	AG09309	skin:	n/a
2	chr15:83002290-83002340	AG09309	skin:	n/a
3	chr15:83002290-83002340	ProgFib	skin:	n/a
4	chr15:83002290-83002340	CMK	blood:	n/a
5	chr15:82959442-82959492	MCF-7	breast:	n/a
6	chr15:83002290-83002340	HRPEpiC	eye:	n/a
7	chr15:83026317-83026367	U87	brain:	n/a
8	chr15:82959442-82959492	PrEC	prostate:	n/a
9	chr15:82959442-82959492	Jurkat	blood:	n/a
10	chr15:83002290-83002340	ovcar-3	ovarian:	n/a
11	chr15:82959442-82959492	HEK293	kidney:	embryo
12	chr15:82959442-82959492	HPAEpiC	pulmonary alveolar:	n/a
13	chr15:83002290-83002340	HEK293	kidney:	embryo
14	chr15:83002290-83002340	NHBE	bronchial:	n/a
15	chr15:83026317-83026367	AG10803	skin:	n/a
16	chr15:83026317-83026367	PANC-1	pancreas:	n/a
17	chr15:82959442-82959492	BJ	skin:	n/a
18	chr15:83026317-83026367	GM12891	blood:	n/a
19	chr15:83026317-83026367	HCM	heart:	n/a
20	chr15:83002290-83002340	AoSMC	blood vessel:	n/a
21	chr15:83026317-83026367	AG09319	gingival:	n/a
22	chr15:83026317-83026367	AG04449	skin:	fetal
23	chr15:83002290-83002340	A549	lung:	n/a
24	chr15:83026317-83026367	Caco-2	colon:	n/a
25	chr15:83002290-83002340	HNPCEpiC	eye:	n/a
26	chr15:82959442-82959492	HAEpiC	amniotic membrane:	n/a
27	chr15:83002290-83002340	Hepatocyte	liver:	n/a
28	chr15:82959442-82959492	HL-60	blood:	n/a
29	chr15:82959442-82959492	AG09319	gingival:	n/a
30	chr15:83002290-83002340	HEEpiC	esophagus:	n/a
31	chr15:83026317-83026367	HRCEpiC	kidney:	n/a
32	chr15:82959442-82959492	AG04450	lung:	fetal
33	chr15:82959442-82959492	BE2_C	brain:	n/a
34	chr15:83026317-83026367	SK-N-SH	brain:	n/a
35	chr15:83026317-83026367	Hepatocyte	liver:	n/a
36	chr15:82959442-82959492	NH-A	brain:	n/a
37	chr15:83026317-83026367	GM12892	blood:	n/a
38	chr15:82959442-82959492	NHBE	bronchial:	n/a
39	chr15:82959442-82959492	Caco-2	colon:	n/a
40	chr15:83026317-83026367	IMR90	lung:	fetal
41	chr15:83026317-83026367	GM12878	blood:	n/a
42	chr15:83002290-83002340	RPTEC	kidney:	n/a
43	chr15:83002290-83002340	NB4	blood:	n/a
44	chr15:83002290-83002340	LNCaP	prostate:	n/a
45	chr15:82959442-82959492	A549	lung:	n/a
46	chr15:83002290-83002340	SK-N-SH_RA	brain:	n/a
47	chr15:83026317-83026367	HRPEpiC	eye:	n/a
48	chr15:82959442-82959492	SK-N-SH_RA	brain:	n/a
49	chr15:82959442-82959492	ECC-1	luminal epithelium:	n/a
50	chr15:82959442-82959492	SK-N-SH	brain:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152F13.5.1-3	chr15:82969419-82969698	NONHSAT047808
2	lnc-RP13-996F3.5.1-2	chr15:83018015-83018160	NONHSAT047817
3	lnc-RP13-996F3.5.1-2	chr15:83015964-83016351	NONHSAT047817

No data

Variant related genes	Relation type
RN7SL256P	TF binding region
CSPG4P9	TF binding region
UBE2Q2P3	TF binding region
ENSG00000259323	TF binding region
ENSG00000259328	TF binding region
ENSG00000221177	TF binding region
GOLGA6L19	TF binding region
RN7SL256P	CpG island
CSPG4P9	CpG island
UBE2Q2P3	CpG island
ENSG00000259323	CpG island
ENSG00000259328	CpG island
ENSG00000221177	CpG island
GOLGA6L19	CpG island

Extended variants
information (count: 102 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375902415	chr15:82959184-82959185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202056082	chr15:82959188-82959189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368604452	chr15:82959222-82959223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76352111	chr15:82959234-82959235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75554775	chr15:82959244-82959245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569198699	chr15:82959245-82959246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80185306	chr15:82959252-82959253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150910761	chr15:82959282-82959283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561851300	chr15:82959293-82959294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201697700	chr15:82959294-82959295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144066606	chr15:82959295-82959296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141281588	chr15:82959298-82959299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200825866	chr15:82959306-82959307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201801136	chr15:82959309-82959310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550329458	chr15:82959311-82959312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376765299	chr15:82959327-82959328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570323848	chr15:82959333-82959334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539303109	chr15:82959369-82959370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149530092	chr15:82959810-82959811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79430563	chr15:82959860-82959861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574840266	chr15:82959873-82959874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147200883	chr15:82959882-82959883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140495351	chr15:82959912-82959913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs390120	chr15:82959925-82959926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557540909	chr15:82959938-82959939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533011017	chr15:82960035-82960036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147259331	chr15:82960062-82960063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185675949	chr15:82960069-82960070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546507312	chr15:82960097-82960098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373723283	chr15:82960138-82960139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113558179	chr15:82960220-82960221	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145694562	chr15:82960228-82960229	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560027135	chr15:82960248-82960249	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572730867	chr15:82960282-82960283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377667630	chr15:82960319-82960320	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142254601	chr15:82960355-82960356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369556149	chr15:82960356-82960357	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373550697	chr15:82960360-82960361	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561547513	chr15:82960377-82960378	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530484028	chr15:82960386-82960387	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150910553	chr15:82960406-82960407	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150059300	chr15:82960417-82960418	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533001416	chr15:82960437-82960438	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546556655	chr15:82960464-82960465	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566731568	chr15:82960524-82960525	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529188932	chr15:82960569-82960570	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62012759	chr15:82960621-82960622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs80012173	chr15:82960728-82960729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190092682	chr15:82960740-82960741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs468702	chr15:82965139-82965140	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82958200-82958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr15:82959000-82959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:82959800-82960200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr15:82959800-82960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:82959800-82960600	Enhancers	Stomach Mucosa	stomach
6	chr15:82960200-82960600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr15:82960400-82960600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:82960400-82960800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:83002000-83002400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:83002000-83002400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:83002000-83002400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:83002000-83002400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr15:83002000-83002400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:83002000-83002400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:83002000-83002400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:83002000-83002400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:83002000-83002400	Active TSS	Primary B cells from peripheral blood	blood
18	chr15:83002000-83002400	Active TSS	Primary T cells fromperipheralblood	blood
19	chr15:83002000-83002400	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr15:83002000-83002400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr15:83002000-83002400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:83002000-83002400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:83002000-83002400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:83002000-83002400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:83002000-83002400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:83002000-83002400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:83002000-83002400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:83002000-83002400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr15:83002000-83002400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr15:83002000-83002400	Active TSS	Fetal Brain Female	brain
31	chr15:83002000-83002400	Active TSS	Fetal Intestine Large	intestine
32	chr15:83002000-83002400	Active TSS	Fetal Intestine Small	intestine
33	chr15:83002000-83002400	Active TSS	Fetal Muscle Leg	muscle
34	chr15:83002000-83002400	Active TSS	Fetal Stomach	stomach
35	chr15:83002000-83002400	Active TSS	Left Ventricle	heart
36	chr15:83002000-83002400	Active TSS	Ovary	ovary
37	chr15:83002000-83002400	Active TSS	Pancreas	Pancrea
38	chr15:83002000-83002400	Active TSS	Right Atrium	heart
39	chr15:83002000-83002400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:83002000-83002400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr15:83002000-83002400	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr15:83023600-83024000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:83023600-83024000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:83023600-83024000	Active TSS	Fetal Brain Female	brain
45	chr15:83023600-83024000	Active TSS	Monocytes-CD14+_RO01746	blood

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