Variant report

Variant	esv3436557
Chromosome Location	chr7:136552012-136553510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr7:136552867-136556782	IMR90	lung:	n/a	chr7:136553454-136553461
2	CTBP2	chr7:136553385-136556290	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr7:136553388-136553703	H1-hESC	embryonic stem cell:	n/a	chr7:136553483-136553492
4	MAFK	chr7:136553062-136553176	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr7:136553023-136556655	IMR90	lung:	n/a	chr7:136554300-136554307 chr7:136553782-136553792
6	POLR2A	chr7:136553061-136554230	IMR90	lung:	n/a	n/a
7	POLR2A	chr7:136553239-136553777	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr7:136553021-136554556	H1-neurons	neurons:	n/a	n/a
9	REST	chr7:136552829-136553812	H1-neurons	neurons:	n/a	n/a
10	SUZ12	chr7:136553386-136556211	H1-hESC	embryonic stem cell:	n/a	n/a
11	SUZ12	chr7:136553140-136556649	NT2-D1	testis:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:136553263-136553313	HUVEC	blood vessel:	n/a
2	chr7:136553263-136553313	HUVEC	blood vessel:	n/a
3	chr7:136553088-136553138	AG04449	skin:	fetal
4	chr7:136553110-136553160	HCM	heart:	n/a
5	chr7:136553289-136553339	T-47D	breast:	n/a
6	chr7:136553110-136553160	HCT-116	colon:	n/a
7	chr7:136553088-136553138	SAEC	small airway:	n/a
8	chr7:136553088-136553138	HAEpiC	amniotic membrane:	n/a
9	chr7:136553170-136553220	SK-N-MC	brain:	n/a
10	chr7:136553289-136553339	NHBE	bronchial:	n/a
11	chr7:136553243-136553293	HCT-116	colon:	n/a
12	chr7:136553263-136553313	HRE	kidney:	n/a
13	chr7:136553289-136553339	HRCEpiC	kidney:	n/a
14	chr7:136553088-136553138	SK-N-MC	brain:	n/a
15	chr7:136553088-136553138	CMK	blood:	n/a
16	chr7:136553289-136553339	PANC-1	pancreas:	n/a
17	chr7:136553088-136553138	HCPEpiC	choroid plexus:	n/a
18	chr7:136553110-136553160	HL-60	blood:	n/a
19	chr7:136553088-136553138	ECC-1	luminal epithelium:	n/a
20	chr7:136553289-136553339	HEK293	kidney:	embryo
21	chr7:136553263-136553313	HEEpiC	esophagus:	n/a
22	chr7:136553327-136553377	AoSMC	blood vessel:	n/a
23	chr7:136553088-136553138	HL-60	blood:	n/a
24	chr7:136553263-136553313	Hepatocyte	liver:	n/a
25	chr7:136553263-136553313	Caco-2	colon:	n/a
26	chr7:136553170-136553220	ProgFib	skin:	n/a
27	chr7:136553088-136553138	HCF	heart:	n/a
28	chr7:136553327-136553377	HPAEpiC	pulmonary alveolar:	n/a
29	chr7:136553243-136553293	HAEpiC	amniotic membrane:	n/a
30	chr7:136553110-136553160	ECC-1	luminal epithelium:	n/a
31	chr7:136553327-136553377	BE2_C	brain:	n/a
32	chr7:136553243-136553293	HNPCEpiC	eye:	n/a
33	chr7:136553088-136553138	A549	lung:	n/a
34	chr7:136553170-136553220	SK-N-SH	brain:	n/a
35	chr7:136553243-136553293	PFSK-1	brain:	n/a
36	chr7:136553170-136553220	MCF-7	breast:	n/a
37	chr7:136553263-136553313	H1-hESC	embryonic stem cell:	embryo
38	chr7:136553110-136553160	HCF	heart:	n/a
39	chr7:136553327-136553377	HNPCEpiC	eye:	n/a
40	chr7:136553088-136553138	GM12878	blood:	n/a
41	chr7:136553263-136553313	HNPCEpiC	eye:	n/a
42	chr7:136553170-136553220	BJ	skin:	n/a
43	chr7:136553088-136553138	BE2_C	brain:	n/a
44	chr7:136553170-136553220	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:136553170-136553220	AG04450	lung:	fetal
46	chr7:136553110-136553160	SAEC	small airway:	n/a
47	chr7:136553289-136553339	AG04450	lung:	fetal
48	chr7:136553243-136553293	AoSMC	blood vessel:	n/a
49	chr7:136553263-136553313	PANC-1	pancreas:	n/a
50	chr7:136553263-136553313	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
CHRM2	TF binding region
CHRM2	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537805976	chr7:136552029-136552030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556629508	chr7:136552053-136552054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546350942	chr7:136552101-136552102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143768981	chr7:136552202-136552203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67684214	chr7:136552211-136552212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12671797	chr7:136552225-136552226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138441365	chr7:136552274-136552275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13243456	chr7:136552288-136552289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142458348	chr7:136552293-136552294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373849114	chr7:136552330-136552331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs328068	chr7:136552344-136552345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369488260	chr7:136552345-136552346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs328069	chr7:136552353-136552354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374687450	chr7:136552357-136552358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374594426	chr7:136552359-136552360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573908569	chr7:136552361-136552362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199646308	chr7:136552363-136552364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71176344	chr7:136552364-136552365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372751988	chr7:136552375-136552376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375871321	chr7:136552378-136552379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185078589	chr7:136552381-136552382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559811173	chr7:136552396-136552397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550338985	chr7:136552398-136552399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375729545	chr7:136552404-136552405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555936794	chr7:136552444-136552445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369261666	chr7:136552461-136552462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367702961	chr7:136552463-136552464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372542521	chr7:136552508-136552509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370334403	chr7:136552525-136552526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377569263	chr7:136552530-136552531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36066120	chr7:136552532-136552533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375479375	chr7:136552575-136552576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200364496	chr7:136552593-136552594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375687775	chr7:136552608-136552609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60564458	chr7:136552633-136552634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58164476	chr7:136552642-136552643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60200841	chr7:136552645-136552646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569432593	chr7:136552648-136552649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77032015	chr7:136552649-136552650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370730881	chr7:136552671-136552672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59039896	chr7:136552683-136552684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188345101	chr7:136552692-136552693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59090879	chr7:136552702-136552703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370468926	chr7:136552708-136552709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71176345	chr7:136552709-136552710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374252162	chr7:136552728-136552729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545411233	chr7:136552737-136552738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200192263	chr7:136552742-136552743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375118191	chr7:136552759-136552760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71550664	chr7:136552760-136552761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136549000-136553000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136551200-136552200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:136551600-136553000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136551600-136553000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:136551800-136553000	Weak transcription	Fetal Heart	heart
6	chr7:136552800-136553200	Active TSS	Fetal Stomach	stomach
7	chr7:136552800-136553600	Active TSS	Fetal Brain Female	brain
8	chr7:136552800-136554800	Active TSS	Stomach Smooth Muscle	stomach
9	chr7:136553000-136553200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
10	chr7:136553000-136553200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr7:136553000-136553200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:136553000-136553200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:136553000-136553200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:136553000-136553200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:136553000-136553200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:136553000-136553200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:136553000-136553200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr7:136553000-136553200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:136553000-136553200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:136553000-136553200	Enhancers	Brain Substantia Nigra	brain
21	chr7:136553000-136553200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr7:136553000-136553200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr7:136553000-136553200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:136553000-136553200	Bivalent Enhancer	HUVEC	blood vessel
25	chr7:136553000-136553200	Flanking Active TSS	NHLF	lung
26	chr7:136553000-136553400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr7:136553000-136553400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr7:136553000-136553400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr7:136553000-136553400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:136553000-136553400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr7:136553000-136553400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:136553000-136553400	Active TSS	Colonic Mucosa	Colon
33	chr7:136553000-136553400	Active TSS	Fetal Brain Male	brain
34	chr7:136553000-136553400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:136553000-136553600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:136553000-136553600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:136553000-136553600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:136553000-136554000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:136553000-136554000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:136553000-136554000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr7:136553000-136554000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:136553000-136554000	Flanking Bivalent TSS/Enh	NH-A	brain
43	chr7:136553000-136554200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr7:136553000-136554200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr7:136553000-136554400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:136553000-136554800	Bivalent/Poised TSS	Osteobl	bone
47	chr7:136553000-136555200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr7:136553000-136555200	Active TSS	Right Ventricle	heart
49	chr7:136553000-136556200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr7:136553000-136556200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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