Variant report

Variant	esv1800954
Chromosome Location	chr7:138541488-138557718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138546026..138547910-chr7:138550834..138552380,2	MCF-7	breast:
2	chr7:138546026..138547910-chr7:138550834..138552380,2	MCF-7	breast:
3	chr7:138411106..138411649-chr7:138550382..138551292,2	MCF-7	breast:
4	chr7:138523932..138526888-chr7:138547683..138549268,2	MCF-7	breast:
5	chr12:62935650..62938196-chr7:138541897..138543397,2	MCF-7	breast:
6	chr7:138547718..138550858-chr7:138574464..138577508,3	MCF-7	breast:
7	chr7:138542570..138544795-chr7:138547269..138548947,2	K562	blood:
8	chr7:138553022..138556430-chr7:138558165..138561303,4	K562	blood:
9	chr7:138144204..138146819-chr7:138556624..138559620,2	MCF-7	breast:
10	chr7:138553423..138556641-chr7:138558165..138561294,5	K562	blood:
11	chr7:138549672..138552619-chr7:138553684..138556452,2	MCF-7	breast:
12	chr7:138531188..138532844-chr7:138546635..138548552,2	MCF-7	breast:
13	chr7:138553030..138555194-chr7:138559442..138562289,2	MCF-7	breast:
14	chr7:138542570..138544795-chr7:138547269..138548947,2	K562	blood:
15	chr7:138525822..138528348-chr7:138545426..138548328,2	K562	blood:
16	chr7:138145192..138147513-chr7:138549257..138551962,2	MCF-7	breast:
17	chr7:138540192..138541943-chr7:138563866..138566000,2	K562	blood:
18	chr7:138549672..138552619-chr7:138553684..138556452,2	MCF-7	breast:
19	chr7:138470631..138471174-chr7:138550346..138550932,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199646	chromatin interactions
ENSG00000122779	chromatin interactions

Extended variants
information (count: 675 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6467814	chr7:138541488-138541489	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112588978	chr7:138541507-138541508	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541779169	chr7:138541539-138541540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561981527	chr7:138541592-138541593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs78104504	chr7:138541648-138541649	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147244147	chr7:138541650-138541651	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117850086	chr7:138541688-138541689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111524957	chr7:138541817-138541818	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140753629	chr7:138541824-138541825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556506546	chr7:138541859-138541860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113284130	chr7:138541879-138541880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373431387	chr7:138541900-138541901	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188103175	chr7:138541910-138541911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181952068	chr7:138541911-138541912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143091712	chr7:138541922-138541923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78980451	chr7:138541944-138541945	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147490582	chr7:138541991-138541992	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539573388	chr7:138541997-138541998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139343530	chr7:138542005-138542006	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117585591	chr7:138542039-138542040	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542164445	chr7:138542108-138542109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150039901	chr7:138542113-138542114	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185423679	chr7:138542122-138542123	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544167251	chr7:138542192-138542193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190331143	chr7:138542200-138542201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577892524	chr7:138542210-138542211	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540353457	chr7:138542237-138542238	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376031899	chr7:138542315-138542316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181656471	chr7:138542322-138542323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528892543	chr7:138542345-138542346	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs145384773	chr7:138542430-138542431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78112245	chr7:138542431-138542432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148796591	chr7:138542482-138542483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143942233	chr7:138542579-138542580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570732444	chr7:138542595-138542596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545391566	chr7:138542645-138542646	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539609250	chr7:138542646-138542647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146418614	chr7:138542662-138542663	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145950473	chr7:138542709-138542710	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140829828	chr7:138542754-138542755	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535264327	chr7:138542758-138542759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35278531	chr7:138542795-138542796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369427187	chr7:138542855-138542856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113450115	chr7:138542873-138542874	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186712542	chr7:138542895-138542896	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555769734	chr7:138542969-138542970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556878066	chr7:138543017-138543018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191156316	chr7:138543068-138543069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572510847	chr7:138543091-138543092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79980889	chr7:138543120-138543121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:138518400-138545400	Weak transcription	Right Ventricle	heart
5	chr7:138519000-138548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:138519200-138544000	Weak transcription	Placenta	Placenta
7	chr7:138519400-138544600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:138519600-138542200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:138523200-138544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:138523200-138544400	Weak transcription	Left Ventricle	heart
13	chr7:138523400-138543000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:138523400-138548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
16	chr7:138524400-138542200	Weak transcription	Dnd41	blood
17	chr7:138527000-138549000	Weak transcription	NH-A	brain
18	chr7:138527200-138545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:138529000-138549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:138529400-138545400	Weak transcription	Lung	lung
21	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:138531200-138545600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
24	chr7:138533600-138549000	Weak transcription	A549	lung
25	chr7:138533600-138549000	Weak transcription	Osteobl	bone
26	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
27	chr7:138533800-138542000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:138533800-138545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:138533800-138549200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
31	chr7:138534800-138545400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:138535400-138542000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:138535400-138544400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:138535600-138541600	Weak transcription	HSMM	muscle
36	chr7:138535600-138542000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:138536000-138544400	Weak transcription	Hela-S3	cervix
38	chr7:138536400-138542200	Weak transcription	Fetal Brain Male	brain
39	chr7:138536600-138541600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:138536800-138541600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:138536800-138541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
43	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
44	chr7:138537600-138545400	Weak transcription	Ovary	ovary
45	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:138539800-138544400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:138540000-138545800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:138540200-138542000	Strong transcription	Fetal Brain Female	brain
50	chr7:138540200-138544200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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