Variant report

Variant	nsv981839
Chromosome Location	chr7:101632578-101663728
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:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:101635097..101635843-chr7:101647196..101647966,2	MCF-7	breast:
2	chr7:101529626..101530204-chr7:101647546..101648051,2	MCF-7	breast:
3	chr7:101643865..101645968-chr7:101646120..101648774,2	K562	blood:
4	chr7:101652466..101655257-chr7:101700349..101702104,2	MCF-7	breast:
5	chr7:101647260..101647782-chr7:101656357..101656872,2	MCF-7	breast:
6	chr7:101457237..101459087-chr7:101639792..101641807,2	MCF-7	breast:
7	chr7:101627337..101631221-chr7:101631346..101635612,7	MCF-7	breast:
8	chr7:101587951..101588938-chr7:101647056..101648122,7	MCF-7	breast:
9	chr7:101615283..101617064-chr7:101647091..101648139,67	MCF-7	breast:
10	chr7:101554223..101556621-chr7:101646115..101648996,2	MCF-7	breast:
11	chr7:101656842..101659859-chr7:101660301..101664311,4	K562	blood:
12	chr7:101625094..101626938-chr7:101639657..101641295,2	MCF-7	breast:
13	chr7:101634892..101635843-chr7:101647115..101648070,5	MCF-7	breast:
14	chr7:101587608..101588933-chr7:101647131..101648172,27	MCF-7	breast:
15	chr7:101460537..101463033-chr7:101654903..101656505,2	MCF-7	breast:
16	chr7:101343414..101344257-chr7:101647212..101647964,4	MCF-7	breast:
17	chr7:101628172..101630666-chr7:101646616..101649464,3	MCF-7	breast:
18	chr7:101611685..101612677-chr7:101647099..101648113,5	MCF-7	breast:
19	chr7:101642133..101644445-chr7:101650974..101653254,2	MCF-7	breast:
20	chr7:101616093..101617019-chr7:101647206..101648036,2	MCF-7	breast:
21	chr7:101641657..101644444-chr7:101647257..101650083,2	K562	blood:
22	chr7:101587965..101588933-chr7:101647133..101648172,17	MCF-7	breast:
23	chr7:101635855..101638805-chr7:101640285..101643011,2	K562	blood:
24	chr7:101647120..101647995-chr7:101957457..101958324,5	MCF-7	breast:
25	chr20:52278044..52278974-chr7:101647121..101648013,2	MCF-7	breast:
26	chr7:101582848..101590446-chr7:101646237..101653992,20	MCF-7	breast:
27	chr7:101634157..101637054-chr7:101638722..101641195,2	MCF-7	breast:
28	chr7:101630321..101633242-chr7:101633881..101635594,2	K562	blood:
29	chr7:101616128..101616927-chr7:101635299..101635807,2	MCF-7	breast:
30	chr7:101631872..101634524-chr7:101635259..101637821,2	MCF-7	breast:
31	chr7:101602326..101606469-chr7:101646129..101649808,3	MCF-7	breast:
32	chr7:101635409..101637242-chr7:101637513..101639320,2	MCF-7	breast:
33	chr7:101341451..101343777-chr7:101646171..101649307,3	MCF-7	breast:
34	chr7:101611841..101614545-chr7:101629314..101633135,4	MCF-7	breast:
35	chr7:101332096..101334015-chr7:101646286..101648242,2	MCF-7	breast:
36	chr7:101634157..101637054-chr7:101638722..101641195,2	MCF-7	breast:
37	chr7:101634892..101635843-chr7:101647115..101648070,5	MCF-7	breast:
38	chr7:101554525..101555243-chr7:101647231..101647936,2	MCF-7	breast:
39	chr7:101643865..101645968-chr7:101646120..101648774,2	K562	blood:
40	chr7:101635409..101637242-chr7:101637513..101639320,2	MCF-7	breast:
41	chr7:101624015..101626714-chr7:101633341..101635563,2	MCF-7	breast:
42	chr7:101528082..101528596-chr7:101647484..101648096,3	MCF-7	breast:
43	chr7:101587675..101589304-chr7:101641856..101645951,3	MCF-7	breast:
44	chr7:101629646..101631231-chr7:101651146..101653804,2	MCF-7	breast:
45	chr7:101656842..101659859-chr7:101660301..101664311,4	K562	blood:
46	chr7:101650955..101653343-chr7:101787745..101790282,2	MCF-7	breast:
47	chr7:101343400..101345941-chr7:101650258..101652233,2	MCF-7	breast:
48	chr7:101526018..101527121-chr7:101647260..101648089,3	MCF-7	breast:
49	chr7:101635581..101637536-chr7:101644954..101647593,3	MCF-7	breast:
50	chr7:101610580..101623329-chr7:101643563..101654055,32	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272219	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000257923	chromatin interactions

Extended variants
information (count: 1242 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550884407	chr7:101632580-101632581	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538643339	chr7:101632581-101632582	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73405919	chr7:101632606-101632607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565473525	chr7:101632638-101632639	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535934564	chr7:101632639-101632640	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554390558	chr7:101632642-101632643	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575835576	chr7:101632645-101632646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536808432	chr7:101632697-101632698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551092573	chr7:101632773-101632774	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577037403	chr7:101632777-101632778	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545415273	chr7:101632788-101632789	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560486000	chr7:101632840-101632841	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572611128	chr7:101632901-101632902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370272349	chr7:101632991-101632992	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114632475	chr7:101633006-101633007	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373740943	chr7:101633016-101633017	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561315744	chr7:101633019-101633020	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531941824	chr7:101633141-101633142	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550072842	chr7:101633167-101633168	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565592261	chr7:101633171-101633172	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532672745	chr7:101633189-101633190	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558598449	chr7:101633192-101633193	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547031916	chr7:101633200-101633201	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs17487076	chr7:101633261-101633262	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535799251	chr7:101633284-101633285	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537640104	chr7:101633314-101633315	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547891513	chr7:101633322-101633323	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569618010	chr7:101633361-101633362	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555897321	chr7:101633376-101633377	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189278503	chr7:101633407-101633408	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574391772	chr7:101633454-101633455	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577105289	chr7:101633457-101633458	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150473645	chr7:101633478-101633479	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534601975	chr7:101633479-101633480	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554679802	chr7:101633553-101633554	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546793604	chr7:101633623-101633624	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201432584	chr7:101633643-101633644	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562785028	chr7:101633646-101633647	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs202052891	chr7:101633658-101633659	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369164924	chr7:101633662-101633663	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540419884	chr7:101633695-101633696	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554252663	chr7:101633697-101633698	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572472077	chr7:101633703-101633704	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144463769	chr7:101633738-101633739	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111533634	chr7:101633759-101633760	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs202164	chr7:101633768-101633769	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181053139	chr7:101633801-101633802	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565329010	chr7:101633874-101633875	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544823869	chr7:101633898-101633899	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532888650	chr7:101633903-101633904	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
4	chr7:101616400-101633000	Weak transcription	Gastric	stomach
5	chr7:101617000-101634000	Weak transcription	Liver	Liver
6	chr7:101620200-101642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:101622200-101635600	Weak transcription	Pancreas	Pancrea
8	chr7:101625600-101635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:101625600-101635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:101625800-101634200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:101627000-101632800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:101627000-101633400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:101627000-101633800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:101627000-101647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:101627000-101671200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:101627800-101634400	Strong transcription	Fetal Intestine Small	intestine
17	chr7:101628000-101651600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:101628400-101632600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:101628600-101632800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:101628600-101633200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:101629000-101634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:101629000-101651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:101629200-101632800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:101629400-101632600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:101629400-101633400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:101629600-101641400	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:101630000-101633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:101630000-101634400	Strong transcription	Fetal Stomach	stomach
29	chr7:101630000-101638000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:101630000-101641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:101630000-101641200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:101630000-101641400	Weak transcription	Aorta	Aorta
33	chr7:101630000-101668000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:101630200-101633000	Genic enhancers	Thymus	Thymus
35	chr7:101630200-101633200	Genic enhancers	Fetal Thymus	thymus
36	chr7:101630200-101634200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:101630400-101633000	Genic enhancers	Dnd41	blood
38	chr7:101630400-101633200	Strong transcription	Lung	lung
39	chr7:101630400-101635400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:101630400-101640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:101630400-101641200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:101630400-101643800	Weak transcription	Right Atrium	heart
43	chr7:101630400-101646600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:101630600-101633000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:101630600-101633000	Genic enhancers	GM12878-XiMat	blood
46	chr7:101630600-101634000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:101630600-101635600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:101630600-101635600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:101630600-101639400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:101630600-101641200	Weak transcription	Brain Inferior Temporal Lobe	brain

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