Variant report

Variant	esv3442941
Chromosome Location	chr7:150939228-150939544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:150939325-150939390	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFATC1	chr7:150939379-150939875	GM12878	blood:	n/a	n/a
3	PBX3	chr7:150938715-150940531	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:150938144-150940517	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:150935932-150940768	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:150939513-150939652	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:150939174-150939610	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:150935363-150940669	U87	brain:	n/a	n/a
9	POLR2A	chr7:150938183-150939971	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr7:150939201-150939336	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:150938525-150939246	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:150939230-150939616	K562	blood:	n/a	n/a
13	POLR2A	chr7:150939206-150939728	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:150939292-150939640	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:150939270-150939271	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:150939467-150940161	HCT-116	colon:	n/a	n/a
17	POLR2A	chr7:150938248-150939612	K562	blood:	n/a	n/a
18	POLR2A	chr7:150938789-150940649	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:150938211-150939549	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:150939291-150939656	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150932457-150941238	U87	brain:	n/a	n/a
22	POLR2A	chr7:150938186-150939303	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr7:150938428-150940428	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:150938453-150940291	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:150939099-150939299	HCT-116	colon:	n/a	n/a
26	POLR2A	chr7:150939198-150939412	HCT-116	colon:	n/a	n/a
27	POLR2A	chr7:150939405-150939648	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:150938338-150939337	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr7:150939285-150939765	ProgFib	skin:	n/a	n/a
30	POLR2A	chr7:150939323-150939520	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:150932336-150940594	K562	blood:	n/a	n/a
32	POLR2A	chr7:150938736-150939398	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:150938286-150939841	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150939219-150939254	ProgFib	skin:	n/a	n/a
35	POLR2A	chr7:150939309-150939364	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr7:150938424-150940130	K562	blood:	n/a	n/a
37	POLR2A	chr7:150938994-150939255	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:150935782-150941408	U87	brain:	n/a	n/a
39	POLR2A	chr7:150939332-150939656	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:150939108-150939618	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:150939283-150940512	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:150938825-150939604	HL-60	blood:	n/a	n/a
43	POLR2A	chr7:150937146-150940087	GM12891	blood:	n/a	n/a
44	POLR2A	chr7:150939460-150939874	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
2	chr7:150835198..150837952-chr7:150936703..150939564,2	K562	blood:

No data

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000133612	chromatin interactions
ENSG00000082014	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369080682	chr7:150939229-150939230	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs141935992	chr7:150939268-150939269	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373461865	chr7:150939327-150939328	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532045269	chr7:150939328-150939329	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs219227	chr7:150939359-150939360	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190865312	chr7:150939382-150939383	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs219228	chr7:150939396-150939397	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547950072	chr7:150939409-150939410	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs146343141	chr7:150939521-150939522	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
3	chr7:150931200-150940000	Strong transcription	Fetal Intestine Small	intestine
4	chr7:150931200-150940000	Weak transcription	Stomach Mucosa	stomach
5	chr7:150931200-150940200	Strong transcription	Fetal Stomach	stomach
6	chr7:150931400-150939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150931400-150939800	Strong transcription	Lung	lung
8	chr7:150931400-150940200	Weak transcription	Small Intestine	intestine
9	chr7:150931400-150940200	Strong transcription	NHLF	lung
10	chr7:150931600-150939600	Strong transcription	Placenta	Placenta
11	chr7:150931600-150939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:150931600-150939800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:150931600-150940000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:150931600-150940200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:150931600-150940200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:150931600-150940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
18	chr7:150931800-150939600	Strong transcription	Fetal Brain Female	brain
19	chr7:150932000-150939600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:150932000-150939800	Strong transcription	Ovary	ovary
21	chr7:150932000-150940000	Strong transcription	Brain Anterior Caudate	brain
22	chr7:150932200-150939400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:150932200-150939600	Strong transcription	Aorta	Aorta
24	chr7:150932200-150940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:150932200-150940000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:150932400-150939400	Weak transcription	Fetal Brain Male	brain
27	chr7:150932400-150940200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:150932600-150940200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150932800-150940000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:150932800-150940400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:150932800-150940800	Weak transcription	HUVEC	blood vessel
32	chr7:150932800-150942000	Weak transcription	Psoas Muscle	Psoas
33	chr7:150933000-150939400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:150933000-150939800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:150933000-150939800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:150933000-150939800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:150933000-150940200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:150933400-150940000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150933400-150940800	Strong transcription	HSMM	muscle
40	chr7:150933600-150939800	Strong transcription	Osteobl	bone
41	chr7:150933800-150940000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:150933800-150940200	Strong transcription	Fetal Lung	lung
43	chr7:150934200-150940000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:150934400-150939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:150934600-150939400	Weak transcription	Primary B cells from cord blood	blood
46	chr7:150935000-150940200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:150935200-150939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:150935200-150939600	Weak transcription	Primary T cells from cord blood	blood
49	chr7:150935400-150939800	Weak transcription	NHEK	skin
50	chr7:150935400-150940000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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