Variant report

Variant	esv3509323
Chromosome Location	chr15:75142174-75144662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr15:75142864-75143068	HepG2	liver:	n/a	chr15:75142928-75142943
2	HNF4A	chr15:75142739-75142994	HepG2	liver:	n/a	chr15:75142928-75142943
3	POLR2A	chr15:75143222-75143322	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:75142374-75142446	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:75142562-75142590	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:75142912-75143195	K562	blood:	n/a	n/a
7	POLR2A	chr15:75144646-75144691	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:75143666-75143799	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:75143342-75143373	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:75143238-75143251	K562	blood:	n/a	n/a
11	POLR2A	chr15:75143309-75143324	K562	blood:	n/a	n/a
12	POLR2A	chr15:75143283-75143302	K562	blood:	n/a	n/a
13	POLR2A	chr15:75143157-75143186	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75135427..75140750-chr15:75141950..75147054,10	K562	blood:
2	chr15:75144129..75146019-chr15:75191068..75193901,2	MCF-7	breast:
3	chr15:75131329..75142649-chr15:75180088..75200119,60	MCF-7	breast:
4	chr15:75142292..75144361-chr15:75184873..75186770,2	K562	blood:
5	chr15:75135715..75138276-chr15:75139819..75143025,6	K562	blood:

No data

Variant related genes	Relation type
SCAMP2	TF binding region
ENSG00000178761	chromatin interactions
ENSG00000140474	chromatin interactions
ENSG00000260824	chromatin interactions
ENSG00000178802	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111929877	chr15:75142176-75142177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs187729658	chr15:75142185-75142186	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs374352442	chr15:75142186-75142187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs191357494	chr15:75142187-75142188	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs559147377	chr15:75142198-75142199	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574493937	chr15:75142269-75142270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs541411828	chr15:75142322-75142323	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs28692934	chr15:75142361-75142362	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs189905997	chr15:75142392-75142393	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372269513	chr15:75142400-75142401	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546537429	chr15:75142422-75142423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs566587748	chr15:75142430-75142431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs139558843	chr15:75142441-75142442	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373729020	chr15:75142458-75142459	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs7170966	chr15:75142490-75142491	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs371285016	chr15:75142565-75142566	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs16973048	chr15:75142675-75142676	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs564317897	chr15:75142690-75142691	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2305668	chr15:75142761-75142762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370163442	chr15:75142810-75142811	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547187138	chr15:75142828-75142829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374841848	chr15:75142837-75142838	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568434629	chr15:75142843-75142844	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200349507	chr15:75142891-75142892	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374249191	chr15:75142901-75142902	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529393022	chr15:75142953-75142954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145230197	chr15:75142959-75142960	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569317161	chr15:75142962-75142963	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76096224	chr15:75143005-75143006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368744213	chr15:75143012-75143013	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112058998	chr15:75143067-75143068	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149732024	chr15:75143106-75143107	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576411528	chr15:75143140-75143141	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558922560	chr15:75143159-75143160	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570612345	chr15:75143192-75143193	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548766467	chr15:75143200-75143201	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115670325	chr15:75143203-75143204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574407034	chr15:75143230-75143231	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541947492	chr15:75143240-75143241	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187902887	chr15:75143361-75143362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568985240	chr15:75143371-75143372	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574921216	chr15:75143433-75143434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192840658	chr15:75143470-75143471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564404800	chr15:75143477-75143478	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28593766	chr15:75143487-75143488	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76731439	chr15:75143491-75143492	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374111649	chr15:75143493-75143494	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538128442	chr15:75143504-75143505	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56981059	chr15:75143526-75143527	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112529510	chr15:75143564-75143565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75136200-75144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:75136200-75155800	Weak transcription	NH-A	brain
3	chr15:75136200-75160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:75136200-75161800	Weak transcription	Fetal Kidney	kidney
5	chr15:75136400-75142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:75136400-75145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:75136400-75147200	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:75136400-75149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:75136400-75158000	Weak transcription	NHDF-Ad	bronchial
10	chr15:75136600-75142600	Weak transcription	HUVEC	blood vessel
11	chr15:75136600-75145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:75136600-75146200	Strong transcription	A549	lung
13	chr15:75136600-75146600	Strong transcription	Brain Angular Gyrus	brain
14	chr15:75136600-75146800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75136600-75146800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:75136600-75147200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:75136600-75163000	Weak transcription	Fetal Brain Male	brain
18	chr15:75136800-75142400	Strong transcription	Fetal Intestine Large	intestine
19	chr15:75136800-75142800	Weak transcription	K562	blood
20	chr15:75136800-75143000	Strong transcription	HepG2	liver
21	chr15:75136800-75143400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:75136800-75143800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:75136800-75144200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:75136800-75146600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:75136800-75147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:75136800-75147000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:75136800-75147200	Strong transcription	Colonic Mucosa	Colon
28	chr15:75137000-75142400	Strong transcription	Fetal Intestine Small	intestine
29	chr15:75137000-75146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:75137000-75146800	Strong transcription	Brain Germinal Matrix	brain
31	chr15:75137000-75147000	Strong transcription	Dnd41	blood
32	chr15:75137000-75147200	Strong transcription	Lung	lung
33	chr15:75137000-75147400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:75137000-75149800	Strong transcription	Fetal Stomach	stomach
35	chr15:75137000-75164800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:75137200-75146800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:75137200-75147200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:75137200-75147200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:75137200-75147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:75137400-75146400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr15:75137400-75146800	Strong transcription	Brain Hippocampus Middle	brain
42	chr15:75137400-75147400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:75137400-75150600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:75137600-75142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:75137600-75147200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:75137600-75147200	Strong transcription	Placenta	Placenta
47	chr15:75137800-75146600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr15:75137800-75146600	Strong transcription	HSMMtube	muscle
49	chr15:75138000-75147000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr15:75138200-75147000	Strong transcription	Fetal Thymus	thymus

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