Variant report

Variant	esv3401951
Chromosome Location	chr15:57151709-57176189
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57169281..57172339-chr15:57176856..57178790,3	K562	blood:
2	chr15:57163658..57165321-chr15:57171558..57174529,2	K562	blood:
3	chr15:57159027..57160649-chr15:57209680..57211478,2	K562	blood:
4	chr15:57148424..57150051-chr15:57159772..57162482,2	K562	blood:
5	chr15:57175109..57176620-chr15:57178319..57180528,2	MCF-7	breast:
6	chr15:57156279..57158494-chr15:57161338..57162998,2	MCF-7	breast:
7	chr15:57164380..57166983-chr15:57169349..57171500,3	K562	blood:
8	chr15:57161808..57163920-chr15:57199692..57202077,2	K562	blood:
9	chr15:57164380..57166983-chr15:57169349..57171500,3	K562	blood:
10	chr15:56783040..56784156-chr15:57161563..57162645,6	K562	blood:
11	chr15:57175759..57177506-chr15:57209487..57212160,2	MCF-7	breast:
12	chr15:57113632..57114331-chr15:57161502..57162048,2	K562	blood:
13	chr15:57172910..57175882-chr15:57209979..57211966,2	K562	blood:
14	chr15:57172910..57177404-chr15:57208501..57211966,4	K562	blood:
15	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
16	chr15:57156279..57158494-chr15:57161338..57162998,2	MCF-7	breast:
17	chr15:57161863..57163537-chr15:57180536..57183003,2	K562	blood:
18	chr15:57173403..57176748-chr15:57177855..57180719,3	MCF-7	breast:
19	chr15:57163658..57165321-chr15:57171558..57174529,2	K562	blood:
20	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
21	chr15:57176057..57187872-chr15:57206946..57217524,36	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCF12-3	chr15:57151613-57151852	NONHSAT044033
2	lnc-MNS1-3	chr15:57151866-57153738	ENSG00000248500

No data

Variant related genes	Relation type
ENSG00000140262	chromatin interactions
ENSG00000137871	chromatin interactions
SMAD4	miRNA target sites

Extended variants
information (count: 837 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561628302	chr15:57151712-57151713	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs115389451	chr15:57151741-57151742	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200404277	chr15:57151757-57151758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541431550	chr15:57151764-57151765	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs185978901	chr15:57151769-57151770	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189092857	chr15:57151843-57151844	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530398751	chr15:57151848-57151849	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61575376	chr15:57151967-57151968	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs147844246	chr15:57152036-57152037	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs182033668	chr15:57152144-57152145	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532569195	chr15:57152161-57152162	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs551814963	chr15:57152202-57152203	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs565452994	chr15:57152224-57152225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs186414185	chr15:57152242-57152243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs528047699	chr15:57152254-57152255	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs190822939	chr15:57152257-57152258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs181447645	chr15:57152289-57152290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs537340936	chr15:57152293-57152294	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550649645	chr15:57152345-57152346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112420362	chr15:57152449-57152450	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1652744	chr15:57152473-57152474	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12164945	chr15:57152489-57152490	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376637909	chr15:57152500-57152501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559063025	chr15:57152556-57152557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570546572	chr15:57152571-57152572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533019919	chr15:57152593-57152594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs28648947	chr15:57152614-57152615	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547364149	chr15:57152625-57152626	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546767060	chr15:57152626-57152627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544045841	chr15:57152639-57152640	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs563648059	chr15:57152656-57152657	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs375602772	chr15:57152698-57152699	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs117770551	chr15:57152733-57152734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs546008683	chr15:57152736-57152737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs559545653	chr15:57152771-57152772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs370647757	chr15:57152848-57152849	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs535698942	chr15:57152870-57152871	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs555354490	chr15:57152875-57152876	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs140937622	chr15:57152880-57152881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs568884709	chr15:57152966-57152967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs548018735	chr15:57153013-57153014	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs185762879	chr15:57153031-57153032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs112041940	chr15:57153037-57153038	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs557867701	chr15:57153069-57153070	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs28468978	chr15:57153089-57153090	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs539616353	chr15:57153095-57153096	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs145771069	chr15:57153132-57153133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs77276337	chr15:57153186-57153187	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs376059756	chr15:57153272-57153273	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs566707868	chr15:57153322-57153323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57128200-57158600	Weak transcription	Ovary	ovary
2	chr15:57135400-57164000	Weak transcription	Aorta	Aorta
3	chr15:57138600-57161800	Weak transcription	Fetal Thymus	thymus
4	chr15:57140000-57164600	Weak transcription	Pancreas	Pancrea
5	chr15:57151000-57152200	Enhancers	A549	lung
6	chr15:57154200-57163400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:57158400-57159800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:57158600-57159400	Enhancers	Ovary	ovary
9	chr15:57158800-57159400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:57159000-57159400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:57159000-57159600	Enhancers	NH-A	brain
12	chr15:57159200-57159600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:57159400-57162600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:57159600-57163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:57159600-57163200	Weak transcription	NH-A	brain
16	chr15:57159800-57160200	Enhancers	Colon Smooth Muscle	Colon
17	chr15:57159800-57163800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:57160200-57160600	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:57160400-57160800	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:57160400-57160800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:57160600-57160800	Enhancers	Colon Smooth Muscle	Colon
22	chr15:57160800-57163400	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:57160800-57164000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:57161400-57162200	Enhancers	Dnd41	blood
25	chr15:57161600-57161800	Enhancers	Brain Substantia Nigra	brain
26	chr15:57161600-57162200	Enhancers	Thymus	Thymus
27	chr15:57161800-57162000	Enhancers	Brain Anterior Caudate	brain
28	chr15:57161800-57162000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr15:57161800-57162000	Enhancers	Fetal Thymus	thymus
30	chr15:57162000-57163600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:57162200-57163400	Weak transcription	Brain Anterior Caudate	brain
32	chr15:57162200-57163400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:57162200-57178400	Weak transcription	Thymus	Thymus
34	chr15:57162600-57163200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:57162800-57164400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:57163000-57163200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:57163000-57163800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:57163000-57164800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:57163000-57164800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:57163000-57164800	Enhancers	Hela-S3	cervix
41	chr15:57163000-57164800	Enhancers	HUVEC	blood vessel
42	chr15:57163200-57163600	Enhancers	NH-A	brain
43	chr15:57163200-57164000	Enhancers	NHEK	skin
44	chr15:57163200-57164200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:57163200-57164200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:57163200-57164400	Enhancers	NHDF-Ad	bronchial
47	chr15:57163200-57164800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:57163200-57164800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr15:57163200-57166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:57163400-57163600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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