Variant report

Variant	nsv824248
Chromosome Location	chr7:102097025-102097651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102095134..102098505-chr7:102103151..102109325,7	K562	blood:
2	chr7:102089632..102093440-chr7:102095527..102097996,3	MCF-7	breast:
3	chr7:102096319..102099955-chr7:102103151..102107969,7	K562	blood:
4	chr7:102095105..102097142-chr7:102112791..102114354,2	K562	blood:
5	chr7:102096270..102098685-chr7:102100293..102102957,2	K562	blood:

Variant related genes	Relation type
ENSG00000266715	chromatin interactions
ENSG00000160993	chromatin interactions
ENSG00000161036	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553470803	chr7:102097040-102097041	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528889294	chr7:102097085-102097086	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565302730	chr7:102097086-102097087	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs550503159	chr7:102097092-102097093	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539071712	chr7:102097124-102097125	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568757143	chr7:102097147-102097148	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs539389003	chr7:102097149-102097150	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557780683	chr7:102097167-102097168	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs118005558	chr7:102097222-102097223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
10	rs543735612	chr7:102097223-102097224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566351595	chr7:102097280-102097281	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34313328	chr7:102097281-102097282	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs78621849	chr7:102097293-102097294	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs533705744	chr7:102097299-102097300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553201587	chr7:102097310-102097311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555581425	chr7:102097321-102097322	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535576948	chr7:102097336-102097337	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs573905040	chr7:102097349-102097350	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs557368280	chr7:102097361-102097362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370411436	chr7:102097389-102097390	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs546544272	chr7:102097417-102097418	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs150974003	chr7:102097429-102097430	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs142174091	chr7:102097432-102097433	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540778209	chr7:102097436-102097437	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561630818	chr7:102097458-102097459	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs4727525	chr7:102097555-102097556	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543962124	chr7:102097556-102097557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377359899	chr7:102097571-102097572	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs184319362	chr7:102097596-102097597	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs1138119	chr7:102097607-102097608	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs112440195	chr7:102097628-102097629	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs368892818	chr7:102097631-102097632	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188739075	chr7:102097634-102097635	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs10224440	chr7:102097646-102097647	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:102075200-102097600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:102075200-102104200	Weak transcription	Fetal Kidney	kidney
5	chr7:102075600-102103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:102075800-102103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:102076000-102097600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:102076000-102104200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:102081200-102098000	Weak transcription	Small Intestine	intestine
10	chr7:102081200-102104200	Weak transcription	Right Atrium	heart
11	chr7:102081400-102098200	Weak transcription	Hela-S3	cervix
12	chr7:102084400-102104000	Weak transcription	Fetal Brain Male	brain
13	chr7:102087400-102097800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:102087800-102097200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:102088200-102104200	Weak transcription	HUVEC	blood vessel
16	chr7:102088400-102104000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:102088800-102097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:102088800-102097400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:102089800-102097600	Weak transcription	Fetal Lung	lung
20	chr7:102090200-102097400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:102091000-102097600	Weak transcription	GM12878-XiMat	blood
22	chr7:102092200-102097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:102092400-102104200	Weak transcription	Psoas Muscle	Psoas
24	chr7:102092400-102104200	Weak transcription	Stomach Mucosa	stomach
25	chr7:102092400-102104200	Weak transcription	A549	lung
26	chr7:102092400-102104200	Weak transcription	HSMM	muscle
27	chr7:102092400-102104200	Weak transcription	NHDF-Ad	bronchial
28	chr7:102092600-102097600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:102092600-102097600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:102092600-102098600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:102092600-102104000	Weak transcription	HSMMtube	muscle
32	chr7:102092600-102104200	Weak transcription	HMEC	breast
33	chr7:102092600-102104200	Weak transcription	NHEK	skin
34	chr7:102093800-102101600	Strong transcription	Fetal Brain Female	brain
35	chr7:102093800-102102800	Strong transcription	Fetal Intestine Small	intestine
36	chr7:102094600-102101400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:102094800-102100200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:102094800-102103400	Strong transcription	Fetal Stomach	stomach
39	chr7:102095000-102101200	Strong transcription	Thymus	Thymus
40	chr7:102095000-102101200	Strong transcription	Spleen	Spleen
41	chr7:102095000-102101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:102095200-102100000	Strong transcription	Brain Anterior Caudate	brain
43	chr7:102095200-102100200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:102095200-102100400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:102095200-102101200	Strong transcription	Brain Germinal Matrix	brain
46	chr7:102095200-102101400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:102095200-102101600	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:102095200-102101800	Strong transcription	Primary T cells from cord blood	blood
49	chr7:102095200-102103400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:102095400-102100400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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