Variant report

Variant	nsv527105
Chromosome Location	chr7:103826002-103836132
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103832288..103834707-chr7:103835398..103837117,2	MCF-7	breast:
2	chr7:103832288..103834707-chr7:103835398..103837117,2	MCF-7	breast:
3	chr7:103828241..103832617-chr7:103845942..103850050,7	K562	blood:
4	chr7:103810117..103812021-chr7:103825452..103828315,2	K562	blood:
5	chr7:103826303..103828394-chr7:103832799..103835414,2	K562	blood:
6	chr7:103826303..103828394-chr7:103832799..103835414,2	K562	blood:
7	chr7:103826587..103829336-chr7:103841216..103843346,2	K562	blood:
8	chr7:103820850..103822660-chr7:103828536..103831512,3	K562	blood:
9	chr7:103820510..103823425-chr7:103831806..103833927,2	MCF-7	breast:
10	chr7:103833753..103835540-chr7:103846175..103847854,2	K562	blood:
11	chr7:103831421..103833734-chr7:103840628..103842889,2	MCF-7	breast:
12	chr7:103826365..103828969-chr7:103829886..103833367,4	K562	blood:
13	chr7:103831029..103833821-chr7:103834047..103836928,2	K562	blood:
14	chr7:103825941..103829096-chr7:103846030..103849198,3	MCF-7	breast:
15	chr7:103831029..103833821-chr7:103834047..103836928,2	K562	blood:
16	chr7:103825084..103829055-chr7:103846776..103849865,4	MCF-7	breast:
17	chr7:103835421..103837340-chr7:103844960..103847432,2	K562	blood:
18	chr7:103156424..103158894-chr7:103835584..103837385,2	K562	blood:
19	chr7:103826365..103828969-chr7:103829886..103833367,4	K562	blood:
20	chr7:103833476..103836240-chr7:103847903..103849703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164815	chromatin interactions

Extended variants
information (count: 411 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12705191	chr7:103826002-103826003	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370494657	chr7:103826003-103826004	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199700401	chr7:103826019-103826020	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533560535	chr7:103826091-103826092	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545643982	chr7:103826104-103826105	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191006668	chr7:103826234-103826235	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201682817	chr7:103826247-103826248	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183409435	chr7:103826249-103826250	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115446677	chr7:103826286-103826287	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544467516	chr7:103826303-103826304	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531743401	chr7:103826347-103826348	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562864199	chr7:103826369-103826370	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574912828	chr7:103826541-103826542	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549801134	chr7:103826618-103826619	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571254919	chr7:103826703-103826704	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7781770	chr7:103826722-103826723	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185917869	chr7:103826737-103826738	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12705192	chr7:103826756-103826757	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535895494	chr7:103826769-103826770	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372764777	chr7:103826770-103826771	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190733053	chr7:103826815-103826816	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182819567	chr7:103826840-103826841	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7781808	chr7:103826842-103826843	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146816356	chr7:103826878-103826879	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10487190	chr7:103826918-103826919	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545729884	chr7:103826932-103826933	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560639867	chr7:103826933-103826934	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188192023	chr7:103826934-103826935	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7801202	chr7:103826944-103826945	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371956361	chr7:103826950-103826951	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527425169	chr7:103827006-103827007	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11770973	chr7:103827064-103827065	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191289247	chr7:103827073-103827074	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564027690	chr7:103827075-103827076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531608517	chr7:103827187-103827188	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550176993	chr7:103827200-103827201	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552562993	chr7:103827244-103827245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532241250	chr7:103827273-103827274	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547291274	chr7:103827274-103827275	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369291411	chr7:103827287-103827288	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182832008	chr7:103827292-103827293	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536487480	chr7:103827302-103827303	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74735098	chr7:103827318-103827319	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375511143	chr7:103827329-103827330	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536624580	chr7:103827332-103827333	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7795570	chr7:103827378-103827379	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144623946	chr7:103827428-103827429	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186791808	chr7:103827452-103827453	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10487191	chr7:103827473-103827474	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116417677	chr7:103827498-103827499	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
3	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
4	chr7:103767200-103829200	Weak transcription	Gastric	stomach
5	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
6	chr7:103775200-103829200	Weak transcription	Lung	lung
7	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
8	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
9	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:103800800-103829600	Weak transcription	NHLF	lung
11	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
12	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
14	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:103815600-103829200	Weak transcription	Aorta	Aorta
16	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
18	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:103817400-103827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:103818200-103829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:103818600-103832400	Strong transcription	Liver	Liver
22	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:103820600-103827600	Weak transcription	HMEC	breast
30	chr7:103820600-103829800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:103820800-103829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:103820800-103829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:103821400-103829200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:103821800-103826800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:103822200-103836400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:103822400-103830400	Strong transcription	HepG2	liver
39	chr7:103822600-103830400	Strong transcription	Fetal Thymus	thymus
40	chr7:103822600-103839600	Strong transcription	K562	blood
41	chr7:103823000-103829600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:103823000-103832600	Strong transcription	Dnd41	blood
43	chr7:103823000-103839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:103823000-103839200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:103823200-103829600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:103823200-103829800	Strong transcription	A549	lung
47	chr7:103823200-103831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:103823600-103829200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:103823600-103830800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:103823800-103827400	Weak transcription	Fetal Lung	lung

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