Variant report

Variant	nsv966867
Chromosome Location	chr7:101645987-101658423
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:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:101554223..101556621-chr7:101646115..101648996,2	MCF-7	breast:
2	chr7:101587951..101588938-chr7:101647056..101648122,7	MCF-7	breast:
3	chr7:101610580..101623329-chr7:101643563..101654055,32	MCF-7	breast:
4	chr7:101526018..101527121-chr7:101647260..101648089,3	MCF-7	breast:
5	chr7:101457163..101465176-chr7:101645974..101654631,24	MCF-7	breast:
6	chr7:101645872..101649176-chr7:101651087..101654410,4	MCF-7	breast:
7	chr7:101460537..101463033-chr7:101654903..101656505,2	MCF-7	breast:
8	chr7:101341451..101343777-chr7:101646171..101649307,3	MCF-7	breast:
9	chr7:101587965..101588933-chr7:101647133..101648172,17	MCF-7	breast:
10	chr20:52278044..52278974-chr7:101647121..101648013,2	MCF-7	breast:
11	chr7:101628172..101630666-chr7:101646616..101649464,3	MCF-7	breast:
12	chr7:101554525..101555243-chr7:101647231..101647936,2	MCF-7	breast:
13	chr7:101529626..101530204-chr7:101647546..101648051,2	MCF-7	breast:
14	chr7:101642133..101644445-chr7:101650974..101653254,2	MCF-7	breast:
15	chr7:101647454..101647990-chr7:101665487..101666095,2	MCF-7	breast:
16	chr7:101635097..101635843-chr7:101647196..101647966,2	MCF-7	breast:
17	chr7:101647227..101648082-chr7:102067449..102067986,2	MCF-7	breast:
18	chr7:101643865..101645968-chr7:101646120..101648774,2	K562	blood:
19	chr7:101332096..101334015-chr7:101646286..101648242,2	MCF-7	breast:
20	chr7:101526331..101527126-chr7:101647167..101647819,3	MCF-7	breast:
21	chr7:101583066..101585594-chr7:101646947..101648936,2	MCF-7	breast:
22	chr7:101616093..101617019-chr7:101647206..101648036,2	MCF-7	breast:
23	chr7:101650955..101653343-chr7:101787745..101790282,2	MCF-7	breast:
24	chr7:101588349..101588849-chr7:101647202..101647807,2	MCF-7	breast:
25	chr7:101615283..101617064-chr7:101647055..101648124,43	MCF-7	breast:
26	chr7:101602326..101606469-chr7:101646129..101649808,3	MCF-7	breast:
27	chr7:101647260..101647782-chr7:101656357..101656872,2	MCF-7	breast:
28	chr7:101611685..101612677-chr7:101647099..101648113,5	MCF-7	breast:
29	chr7:101647226..101647995-chr7:101957457..101958324,3	MCF-7	breast:
30	chr7:101645872..101649176-chr7:101651087..101654410,4	MCF-7	breast:
31	chr7:101635581..101637536-chr7:101644954..101647593,3	MCF-7	breast:
32	chr7:101343414..101344257-chr7:101647212..101647964,4	MCF-7	breast:
33	chr7:101656842..101659859-chr7:101660301..101664311,4	K562	blood:
34	chr7:101613983..101614864-chr7:101647256..101648106,6	MCF-7	breast:
35	chr7:101647281..101648020-chr7:101707540..101708409,2	MCF-7	breast:
36	chr7:101525676..101527121-chr7:101647199..101648097,5	MCF-7	breast:
37	chr7:101654464..101657712-chr7:101662423..101666684,4	MCF-7	breast:
38	chr7:101629646..101631231-chr7:101651146..101653804,2	MCF-7	breast:
39	chr7:101554486..101555243-chr7:101647159..101647936,3	MCF-7	breast:
40	chr7:101525260..101527111-chr7:101652933..101654478,2	MCF-7	breast:
41	chr7:101641657..101644444-chr7:101647257..101650083,2	K562	blood:
42	chr7:101528082..101528596-chr7:101647484..101648096,3	MCF-7	breast:
43	chr7:101540840..101542361-chr7:101651553..101653872,2	MCF-7	breast:
44	chr7:101647120..101647995-chr7:101957457..101958324,5	MCF-7	breast:
45	chr7:101657254..101660021-chr7:101660679..101662867,2	MCF-7	breast:
46	chr7:101582848..101590446-chr7:101646237..101653992,20	MCF-7	breast:
47	chr7:101343400..101345941-chr7:101650258..101652233,2	MCF-7	breast:
48	chr7:101572285..101574199-chr7:101650323..101652421,2	K562	blood:
49	chr7:101652466..101655257-chr7:101700349..101702104,2	MCF-7	breast:
50	chr7:101528031..101528981-chr7:101647157..101648096,6	MCF-7	breast:

No data

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

Extended variants
information (count: 515 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536412820	chr7:101645991-101645992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183332843	chr7:101646007-101646008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187568923	chr7:101646012-101646013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150375299	chr7:101646019-101646020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556585942	chr7:101646049-101646050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529001718	chr7:101646050-101646051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs578176370	chr7:101646167-101646168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539135538	chr7:101646174-101646175	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554194926	chr7:101646185-101646186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376434937	chr7:101646197-101646198	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540755966	chr7:101646230-101646231	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576681170	chr7:101646234-101646235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200170720	chr7:101646268-101646269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572570668	chr7:101646294-101646295	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559528781	chr7:101646363-101646364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138109115	chr7:101646385-101646386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369600891	chr7:101646431-101646432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576314761	chr7:101646475-101646476	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386716291	chr7:101646499-101646500	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370829836	chr7:101646500-101646501	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs3222405	chr7:101646613-101646614	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531934810	chr7:101646614-101646615	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56760446	chr7:101646615-101646616	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530775735	chr7:101646626-101646627	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547190556	chr7:101646655-101646656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559371216	chr7:101646656-101646657	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529874338	chr7:101646664-101646665	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548349370	chr7:101646713-101646714	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189729033	chr7:101646718-101646719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182568206	chr7:101646721-101646722	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537338347	chr7:101646745-101646746	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552451050	chr7:101646773-101646774	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571675921	chr7:101646775-101646776	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188421454	chr7:101646795-101646796	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149505679	chr7:101646843-101646844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375134617	chr7:101646898-101646899	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541685239	chr7:101646905-101646906	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572482135	chr7:101646943-101646944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144066862	chr7:101646960-101646961	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542500537	chr7:101647001-101647002	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555136082	chr7:101647078-101647079	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576376434	chr7:101647080-101647081	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs58511318	chr7:101647085-101647086	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138694856	chr7:101647111-101647112	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565198942	chr7:101647115-101647116	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576451440	chr7:101647117-101647118	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192653816	chr7:101647129-101647130	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12668172	chr7:101647143-101647144	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs142006533	chr7:101647170-101647171	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs78754017	chr7:101647183-101647184	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	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:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
3	chr7:101627000-101647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:101627000-101671200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:101628000-101651600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:101629000-101651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:101630000-101668000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:101630400-101646600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:101630800-101652400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:101633000-101646600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:101633200-101649000	Weak transcription	Lung	lung
12	chr7:101633400-101651400	Weak transcription	Gastric	stomach
13	chr7:101634400-101649800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:101634400-101651600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:101634600-101652000	Weak transcription	Primary T cells from cord blood	blood
16	chr7:101635000-101652000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:101635800-101651400	Weak transcription	HepG2	liver
18	chr7:101637600-101647400	Weak transcription	Fetal Stomach	stomach
19	chr7:101639800-101655800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:101640200-101651600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:101640200-101652000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:101641600-101672000	Weak transcription	K562	blood
23	chr7:101641800-101651800	Weak transcription	Fetal Intestine Large	intestine
24	chr7:101642000-101661600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:101642200-101647600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:101642200-101666600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:101642200-101671400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:101642200-101671600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:101642200-101674600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:101642400-101647200	Weak transcription	A549	lung
31	chr7:101642400-101647800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:101642400-101648000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:101642400-101650000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:101642400-101652200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:101642400-101661800	Weak transcription	Spleen	Spleen
36	chr7:101642400-101668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:101642400-101671200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:101642400-101671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:101642400-101675400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:101642600-101647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:101642800-101646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:101642800-101651600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:101642800-101668000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
45	chr7:101643000-101648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:101643000-101655600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:101643000-101657400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:101643000-101665200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:101643000-101672800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:101643000-101675600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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