Variant report

Variant	esv19884
Chromosome Location	chr7:103772400-103774548
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103772435..103775034-chr7:103782571..103784450,2	K562	blood:
2	chr7:103766834..103768686-chr7:103770903..103773762,2	K562	blood:
3	chr7:103774534..103776451-chr7:103778597..103780870,2	K562	blood:
4	chr7:103769885..103772805-chr7:103778154..103780939,3	K562	blood:
5	chr7:103764338..103766709-chr7:103771268..103773724,2	K562	blood:
6	chr7:103764338..103766327-chr7:103771229..103772768,2	K562	blood:
7	chr7:103773857..103776451-chr7:103778277..103781105,4	K562	blood:

No data

Extended variants
information (count: 60 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549021327	chr7:103772421-103772422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200720057	chr7:103772432-103772433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568736129	chr7:103772472-103772473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116829513	chr7:103772496-103772497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566643642	chr7:103772514-103772515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557479123	chr7:103772542-103772543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369043889	chr7:103772544-103772545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78166021	chr7:103772548-103772549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62485900	chr7:103772560-103772561	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558006805	chr7:103772570-103772571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560427434	chr7:103772588-103772589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572881580	chr7:103772606-103772607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573369997	chr7:103772607-103772608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376496177	chr7:103772633-103772634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540209046	chr7:103772674-103772675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374007537	chr7:103772675-103772676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs194846	chr7:103772729-103772730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs566612877	chr7:103772822-103772823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191324393	chr7:103772902-103772903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562700593	chr7:103772919-103772920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375445203	chr7:103773116-103773117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575780600	chr7:103773140-103773141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs194847	chr7:103773168-103773169	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545064880	chr7:103773265-103773266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377305144	chr7:103773267-103773268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60023964	chr7:103773289-103773290	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550720148	chr7:103773323-103773324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527397120	chr7:103773365-103773366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548956143	chr7:103773395-103773396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527380111	chr7:103773399-103773400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529608024	chr7:103773417-103773418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551028773	chr7:103773437-103773438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569420531	chr7:103773440-103773441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539675594	chr7:103773476-103773477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370941093	chr7:103773480-103773481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566595534	chr7:103773509-103773510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55848	chr7:103773535-103773536	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555295114	chr7:103773600-103773601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573745262	chr7:103773618-103773619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544486765	chr7:103773682-103773683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556211269	chr7:103773685-103773686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577889268	chr7:103773738-103773739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544841131	chr7:103773743-103773744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141609587	chr7:103773761-103773762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527332441	chr7:103773792-103773793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542788277	chr7:103773827-103773828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs194848	chr7:103773849-103773850	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531240592	chr7:103774008-103774009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551235763	chr7:103774117-103774118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569423567	chr7:103774249-103774250	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103761400-103778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:103762800-103774200	Weak transcription	HepG2	liver
3	chr7:103763000-103777600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:103763400-103773000	Weak transcription	Fetal Heart	heart
5	chr7:103763400-103774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:103763400-103779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:103763600-103776200	Weak transcription	Colonic Mucosa	Colon
8	chr7:103763800-103815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:103764000-103783200	Weak transcription	NHLF	lung
10	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:103764400-103772400	Weak transcription	Fetal Intestine Large	intestine
12	chr7:103764400-103776200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:103764400-103776400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:103764400-103776400	Weak transcription	NH-A	brain
15	chr7:103764400-103777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:103764400-103778400	Weak transcription	NHDF-Ad	bronchial
17	chr7:103764400-103820200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:103764600-103772800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:103765000-103774600	Strong transcription	Primary B cells from cord blood	blood
20	chr7:103765400-103778000	Weak transcription	Stomach Mucosa	stomach
21	chr7:103765600-103815000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
23	chr7:103765800-103776400	Weak transcription	Fetal Brain Female	brain
24	chr7:103766000-103774400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:103766000-103776200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:103766000-103778000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:103766200-103774000	Weak transcription	Lung	lung
28	chr7:103766200-103779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:103766200-103779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:103766200-103800000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:103766200-103803800	Weak transcription	Pancreas	Pancrea
32	chr7:103766200-103816000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:103766200-103823600	Weak transcription	Esophagus	oesophagus
34	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
35	chr7:103766400-103774000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:103766400-103822600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:103766600-103773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:103767200-103772600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:103767200-103772600	Weak transcription	GM12878-XiMat	blood
40	chr7:103767200-103773800	Weak transcription	Fetal Stomach	stomach
41	chr7:103767200-103776800	Weak transcription	Brain Anterior Caudate	brain
42	chr7:103767200-103779000	Weak transcription	Fetal Brain Male	brain
43	chr7:103767200-103829200	Weak transcription	Gastric	stomach
44	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
45	chr7:103767400-103774000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:103767400-103778400	Weak transcription	Psoas Muscle	Psoas
47	chr7:103767600-103779000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:103767600-103820200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:103768000-103779800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:103769000-103776800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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