Variant report

Variant	nsv365994
Chromosome Location	chr7:86836615-86836923
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	POLR2A	chr7:86836069-86836624	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:86836861-86838449	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:86836891-86838400	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:86836031-86836645	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:86835433-86836685	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86567664..86570566-chr7:86835025..86837514,2	K562	blood:
2	chr7:86835662..86838020-chr7:86838846..86841244,3	K562	blood:

Variant related genes	Relation type
TMEM243	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112520953	chr7:86836630-86836631	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368055847	chr7:86836632-86836633	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371560182	chr7:86836633-86836634	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571235657	chr7:86836636-86836637	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558909529	chr7:86836639-86836640	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532793937	chr7:86836683-86836684	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62486482	chr7:86836705-86836706	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532251694	chr7:86836727-86836728	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372682806	chr7:86836756-86836757	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200348349	chr7:86836805-86836806	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201444583	chr7:86836826-86836827	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199668822	chr7:86836829-86836830	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62486483	chr7:86836836-86836837	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200773345	chr7:86836866-86836867	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575149921	chr7:86836911-86836912	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86821000-86847400	Weak transcription	Stomach Mucosa	stomach
2	chr7:86822200-86841800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:86825000-86840000	Weak transcription	Ovary	ovary
4	chr7:86825600-86847400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:86825800-86843600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:86826800-86846000	Weak transcription	Fetal Kidney	kidney
7	chr7:86826800-86848200	Weak transcription	Left Ventricle	heart
8	chr7:86828400-86848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:86829000-86837600	Weak transcription	Fetal Heart	heart
10	chr7:86829800-86848000	Weak transcription	Right Ventricle	heart
11	chr7:86830000-86839800	Weak transcription	HSMMtube	muscle
12	chr7:86831000-86847200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:86831600-86838400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:86831800-86838800	ZNF genes & repeats	GM12878-XiMat	blood
15	chr7:86832000-86838000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr7:86832000-86843400	Weak transcription	NHLF	lung
17	chr7:86832200-86840600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:86832200-86843200	Weak transcription	Osteobl	bone
19	chr7:86832200-86846000	Weak transcription	HSMM	muscle
20	chr7:86832400-86841000	Weak transcription	Small Intestine	intestine
21	chr7:86832400-86845600	Weak transcription	Pancreas	Pancrea
22	chr7:86832400-86847200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:86833400-86837200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr7:86833800-86841200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:86834000-86837200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr7:86834000-86837200	ZNF genes & repeats	Dnd41	blood
27	chr7:86834000-86838400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:86834000-86838400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr7:86834600-86837200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr7:86834600-86847200	Weak transcription	Colonic Mucosa	Colon
31	chr7:86834600-86847400	Weak transcription	Esophagus	oesophagus
32	chr7:86834600-86848200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:86834800-86837400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr7:86834800-86838000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:86835000-86837000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:86835000-86837400	ZNF genes & repeats	Fetal Lung	lung
37	chr7:86835200-86840800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:86835200-86842400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:86835400-86841000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:86835600-86837400	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr7:86835800-86837000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:86835800-86837600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:86835800-86837800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:86835800-86838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:86835800-86846000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:86836000-86837200	Enhancers	HMEC	breast
47	chr7:86836000-86837600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:86836000-86838400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:86836000-86842000	Weak transcription	Brain Anterior Caudate	brain
50	chr7:86836000-86842200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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