Variant report

Variant	nsv981815
Chromosome Location	chr7:99224245-99235459
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	chr7:99226823..99229371-chr7:99278363..99279988,2	K562	blood:
2	chr7:99228995..99229922-chr7:99588200..99589102,3	K562	blood:
3	chr7:99221268..99223879-chr7:99225955..99229259,4	MCF-7	breast:
4	chr7:99223092..99225778-chr7:99231932..99235796,4	K562	blood:
5	chr7:99233858..99235993-chr7:99264652..99267032,2	K562	blood:
6	chr6:54711085..54712590-chr7:99228914..99230434,2	MCF-7	breast:
7	chr7:99223092..99225778-chr7:99231932..99235796,4	K562	blood:
8	chr7:99216120..99218766-chr7:99230019..99232537,3	MCF-7	breast:
9	chr6:54711477..54713187-chr7:99228936..99230436,2	MCF-7	breast:
10	chr7:99101808..99103937-chr7:99227175..99231187,3	MCF-7	breast:
11	chr7:99228963..99230026-chr7:99435320..99436119,4	MCF-7	breast:
12	chr7:99226925..99228717-chr7:99515670..99518540,2	K562	blood:
13	chr7:99228346..99230589-chr7:99239970..99242108,2	K562	blood:
14	chr7:99215464..99217026-chr7:99233198..99234980,2	K562	blood:
15	chr7:99228894..99231591-chr7:99234960..99236769,2	K562	blood:
16	chr7:99229171..99229923-chr7:99435691..99436334,2	MCF-7	breast:
17	chr7:99174028..99175848-chr7:99226635..99229515,2	K562	blood:
18	chr7:99227217..99229692-chr7:99515669..99518540,2	K562	blood:
19	chr7:99224377..99226344-chr7:99414554..99417105,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146833	chromatin interactions
ENSG00000168143	chromatin interactions
ENSG00000197037	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000224448	chromatin interactions

Extended variants
information (count: 440 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:440 , 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	rs372976188	chr7:99224350-99224351	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569757607	chr7:99224391-99224392	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367673821	chr7:99224431-99224432	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150228083	chr7:99224434-99224435	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558862640	chr7:99224449-99224450	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571061143	chr7:99224480-99224481	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573257749	chr7:99224520-99224521	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534973432	chr7:99224525-99224526	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553274596	chr7:99224536-99224537	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376501841	chr7:99224539-99224540	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371554836	chr7:99224571-99224572	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574445938	chr7:99224573-99224574	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535467883	chr7:99224599-99224600	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112266858	chr7:99224659-99224660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575334350	chr7:99224661-99224662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143259639	chr7:99224662-99224663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540637138	chr7:99224666-99224667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576985633	chr7:99224677-99224678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540919573	chr7:99224693-99224694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189457616	chr7:99224815-99224816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368905532	chr7:99224839-99224840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559692750	chr7:99224841-99224842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530056122	chr7:99224846-99224847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181252575	chr7:99224893-99224894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374355065	chr7:99224905-99224906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141485099	chr7:99224997-99224998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73148837	chr7:99225054-99225055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532835342	chr7:99225071-99225072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552266091	chr7:99225077-99225078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570929448	chr7:99225093-99225094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535225072	chr7:99225109-99225110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147085413	chr7:99225121-99225122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138443336	chr7:99225129-99225130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149640594	chr7:99225192-99225193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530623486	chr7:99225212-99225213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116188723	chr7:99225274-99225275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201718241	chr7:99225287-99225288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73408523	chr7:99225306-99225307	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117749728	chr7:99225319-99225320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558233321	chr7:99225326-99225327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576921399	chr7:99225327-99225328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184167297	chr7:99225341-99225342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559631901	chr7:99225349-99225350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574762118	chr7:99225354-99225355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542179033	chr7:99225361-99225362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148412745	chr7:99225366-99225367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541063829	chr7:99225394-99225395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76316697	chr7:99225436-99225437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370686330	chr7:99225439-99225440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141618777	chr7:99225444-99225445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99215800-99229400	Strong transcription	Fetal Muscle Leg	muscle
3	chr7:99215800-99229600	Weak transcription	Right Atrium	heart
4	chr7:99215800-99231800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:99215800-99232200	Strong transcription	Fetal Stomach	stomach
6	chr7:99216000-99224400	Weak transcription	Fetal Heart	heart
7	chr7:99216000-99225600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:99216000-99225800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:99216000-99226000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:99216000-99228800	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:99216000-99229000	Strong transcription	K562	blood
12	chr7:99216000-99229400	Strong transcription	Fetal Lung	lung
13	chr7:99216000-99231400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr7:99216200-99224600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:99216200-99224800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:99216200-99225600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr7:99216200-99225600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:99216200-99225800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:99216200-99226000	Strong transcription	Brain Anterior Caudate	brain
20	chr7:99216200-99228200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:99216200-99229400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:99216200-99229400	Strong transcription	Left Ventricle	heart
23	chr7:99216200-99229800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr7:99216200-99230200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:99216200-99230400	Strong transcription	NHLF	lung
26	chr7:99216200-99230600	Strong transcription	Adipose Nuclei	Adipose
27	chr7:99216200-99231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:99216200-99231800	Strong transcription	Placenta	Placenta
29	chr7:99216200-99231800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:99216200-99232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:99216200-99232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:99216200-99232000	Strong transcription	Fetal Intestine Large	intestine
33	chr7:99216200-99232200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:99216200-99232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:99216200-99232200	Strong transcription	Lung	lung
36	chr7:99216400-99225800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:99216400-99228000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:99216400-99228200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:99216400-99228400	Strong transcription	Colon Smooth Muscle	Colon
40	chr7:99216400-99228600	Strong transcription	HepG2	liver
41	chr7:99216400-99229200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr7:99216400-99229200	Strong transcription	Brain Hippocampus Middle	brain
43	chr7:99216400-99229200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:99216400-99229200	Strong transcription	A549	lung
45	chr7:99216400-99229400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:99216400-99230600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:99216400-99231600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:99216400-99231800	Strong transcription	Fetal Brain Female	brain
49	chr7:99216400-99232000	Strong transcription	Primary B cells from cord blood	blood
50	chr7:99216400-99232000	Strong transcription	GM12878-XiMat	blood

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