Variant report

Variant	esv3347902
Chromosome Location	chr7:150213998-150214458
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	ATF1	chr7:150214006-150214042	K562	blood:	n/a	n/a
2	FOS	chr7:150213926-150214680	HUVEC	blood vessel:	n/a	chr7:150214252-150214263
3	FOS	chr7:150214132-150214400	MCF10A-Er-Src	breast:	n/a	chr7:150214252-150214263
4	JUN	chr7:150214093-150214419	HUVEC	blood vessel:	n/a	n/a
5	JUND	chr7:150214124-150214416	HepG2	liver:	n/a	chr7:150214252-150214263
6	POLR2A	chr7:150214084-150214805	HUVEC	blood vessel:	n/a	n/a
7	STAT3	chr7:150214286-150214801	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150208954..150212624-chr7:150214367..150216129,3	K562	blood:

Variant related genes	Relation type
STRADBP1	TF binding region
ENSG00000213205	chromatin interactions
ENSG00000179144	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530263617	chr7:150214003-150214004	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189971816	chr7:150214006-150214007	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138404444	chr7:150214009-150214010	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532376364	chr7:150214045-150214046	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552427052	chr7:150214066-150214067	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182140339	chr7:150214087-150214088	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186190440	chr7:150214091-150214092	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189427655	chr7:150214148-150214149	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144338735	chr7:150214174-150214175	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376014531	chr7:150214184-150214185	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541468709	chr7:150214200-150214201	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77910660	chr7:150214224-150214225	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181945158	chr7:150214253-150214254	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148365841	chr7:150214254-150214255	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539453178	chr7:150214288-150214289	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556479472	chr7:150214295-150214296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576312194	chr7:150214394-150214395	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs74786910	chr7:150214408-150214409	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12703077	chr7:150214426-150214427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563587903	chr7:150214438-150214439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150211000-150214600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:150211000-150214800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:150211000-150216200	Active TSS	Psoas Muscle	Psoas
4	chr7:150211000-150219000	Active TSS	Right Atrium	heart
5	chr7:150211200-150214800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:150211200-150217000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:150211400-150214600	Active TSS	Brain Anterior Caudate	brain
8	chr7:150211400-150215400	Active TSS	Left Ventricle	heart
9	chr7:150211400-150217400	Active TSS	Adipose Nuclei	Adipose
10	chr7:150211400-150218600	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:150211600-150214200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:150211600-150214200	Active TSS	Fetal Intestine Large	intestine
13	chr7:150211600-150214600	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:150211600-150214800	Active TSS	Liver	Liver
15	chr7:150211600-150215400	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:150211600-150215400	Active TSS	Right Ventricle	heart
17	chr7:150211600-150215400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:150211600-150215800	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:150211600-150216000	Active TSS	Fetal Muscle Leg	muscle
20	chr7:150211600-150216800	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:150211600-150216800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:150211600-150217000	Active TSS	Primary T cells from cord blood	blood
23	chr7:150211600-150217000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150211800-150214200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:150211800-150214800	Active TSS	Fetal Kidney	kidney
26	chr7:150211800-150215400	Active TSS	Thymus	Thymus
27	chr7:150211800-150216200	Active TSS	GM12878-XiMat	blood
28	chr7:150211800-150216800	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:150211800-150216800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:150211800-150216800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:150211800-150217000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:150212000-150214000	Active TSS	Placenta	Placenta
33	chr7:150212000-150215400	Active TSS	Small Intestine	intestine
34	chr7:150212200-150216200	Active TSS	Fetal Thymus	thymus
35	chr7:150212200-150218600	Active TSS	Primary B cells from cord blood	blood
36	chr7:150212400-150214600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:150212400-150216000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:150212600-150216000	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:150212800-150217000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:150213000-150215200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:150213000-150215400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:150213000-150216800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:150213200-150214200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150213200-150214400	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr7:150213200-150216800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:150213200-150216800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:150213200-150217000	Weak transcription	Esophagus	oesophagus
48	chr7:150213200-150217000	Weak transcription	Lung	lung
49	chr7:150213200-150217000	Weak transcription	Spleen	Spleen
50	chr7:150213200-150217200	Weak transcription	Gastric	stomach

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