Variant report

Variant	nsv1027123
Chromosome Location	chr7:7870047-7926288
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7882166..7884343-chr7:7890925..7892861,2	MCF-7	breast:
2	chr7:7890228..7892788-chr7:7895329..7898203,2	K562	blood:
3	chr7:7856295..7858944-chr7:7878123..7880434,2	MCF-7	breast:
4	chr7:7870591..7873330-chr7:7877143..7879924,2	MCF-7	breast:
5	chr16:89626424..89628446-chr7:7875824..7877331,2	MCF-7	breast:
6	chr7:7877901..7881763-chr7:7882071..7884078,3	K562	blood:
7	chr7:7890228..7892788-chr7:7895329..7898203,2	K562	blood:
8	chr7:7904713..7906723-chr7:7911764..7914696,2	K562	blood:
9	chr7:7896335..7897890-chr7:7900322..7902717,2	MCF-7	breast:
10	chr7:7908600..7910763-chr7:7934050..7936742,2	K562	blood:
11	chr7:7866665..7868204-chr7:7899754..7902407,2	MCF-7	breast:
12	chr7:7896335..7897890-chr7:7900322..7902717,2	MCF-7	breast:
13	chr7:7897275..7899507-chr7:8009008..8010674,2	MCF-7	breast:
14	chr7:7870591..7873330-chr7:7877143..7879924,2	MCF-7	breast:
15	chr7:7912939..7915292-chr7:7916036..7918136,3	K562	blood:
16	chr7:7913240..7915292-chr7:7916036..7917887,2	K562	blood:
17	chr7:7908747..7911245-chr7:7915416..7917083,2	MCF-7	breast:
18	chr7:7882166..7884343-chr7:7890925..7892861,2	MCF-7	breast:
19	chr7:7911633..7914255-chr7:7920651..7923131,2	K562	blood:
20	chr7:7900013..7901798-chr7:7910728..7913305,2	MCF-7	breast:
21	chr7:7874970..7879526-chr7:8007155..8010412,4	MCF-7	breast:
22	chr7:7900013..7901798-chr7:7910728..7913305,2	MCF-7	breast:
23	chr7:7913240..7915292-chr7:7916036..7917887,2	K562	blood:
24	chr7:7912939..7915292-chr7:7916036..7918136,3	K562	blood:
25	chr7:7877901..7881763-chr7:7882071..7884078,3	K562	blood:
26	chr7:7874040..7875689-chr7:7877089..7878814,2	K562	blood:
27	chr7:7911633..7914255-chr7:7920651..7923131,2	K562	blood:
28	chr7:7874040..7875689-chr7:7877089..7878814,2	K562	blood:
29	chr7:7904713..7906723-chr7:7911764..7914696,2	K562	blood:
30	chr7:7900050..7902879-chr7:7904701..7906476,3	K562	blood:
31	chr7:7900050..7902879-chr7:7904701..7906476,3	K562	blood:
32	chr7:7908747..7911245-chr7:7915416..7917083,2	MCF-7	breast:
33	chr7:7920545..7923153-chr7:7947615..7949685,2	MCF-7	breast:
34	chr7:7868412..7871281-chr7:8007922..8010242,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233108	chromatin interactions
ENSG00000200084	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000106415	chromatin interactions

Extended variants
information (count: 2454 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10952075	chr7:7870047-7870048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs554218637	chr7:7870111-7870112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113059231	chr7:7870113-7870114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540025478	chr7:7870140-7870141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145803176	chr7:7870141-7870142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577063974	chr7:7870163-7870164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34754629	chr7:7870168-7870169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544451925	chr7:7870185-7870186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138404468	chr7:7870198-7870199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530904064	chr7:7870207-7870208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11974817	chr7:7870208-7870209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
12	rs141473584	chr7:7870256-7870257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528736636	chr7:7870299-7870300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572329586	chr7:7870345-7870346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs75934001	chr7:7870415-7870416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539517147	chr7:7870430-7870431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571766505	chr7:7870431-7870432	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11978595	chr7:7870432-7870433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78541957	chr7:7870490-7870491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576176575	chr7:7870500-7870501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575572735	chr7:7870517-7870518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558241650	chr7:7870525-7870526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368252739	chr7:7870534-7870535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7798813	chr7:7870535-7870536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543796506	chr7:7870553-7870554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7781344	chr7:7870597-7870598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561980735	chr7:7870600-7870601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73055864	chr7:7870602-7870603	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372696690	chr7:7870607-7870608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7785174	chr7:7870619-7870620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558336659	chr7:7870661-7870662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183156360	chr7:7870692-7870693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541363301	chr7:7870703-7870704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544198311	chr7:7870719-7870720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559560236	chr7:7870722-7870723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533175326	chr7:7870828-7870829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141424421	chr7:7870832-7870833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376942149	chr7:7870838-7870839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10244745	chr7:7870841-7870842	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs543033643	chr7:7870866-7870867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561413357	chr7:7870881-7870882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528600805	chr7:7870882-7870883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540690300	chr7:7870940-7870941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150817933	chr7:7870972-7870973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73674644	chr7:7871023-7871024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373830828	chr7:7871032-7871033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs116129727	chr7:7871043-7871044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138222994	chr7:7871050-7871051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188037042	chr7:7871071-7871072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs17560422	chr7:7871121-7871122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7837200-7876400	Weak transcription	Aorta	Aorta
2	chr7:7837200-7883400	Weak transcription	Left Ventricle	heart
3	chr7:7856200-7887200	Weak transcription	Right Ventricle	heart
4	chr7:7856400-7883400	Weak transcription	Psoas Muscle	Psoas
5	chr7:7856600-7875800	Weak transcription	Small Intestine	intestine
6	chr7:7856600-7882800	Weak transcription	Thymus	Thymus
7	chr7:7857600-7876200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:7862400-7875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:7864400-7870200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:7864400-7874000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:7864800-7872200	Weak transcription	Primary T cells from cord blood	blood
12	chr7:7864800-7887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:7865600-7874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:7867200-7874600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:7867800-7874200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:7868600-7870400	Enhancers	Hela-S3	cervix
17	chr7:7869400-7870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:7869400-7870200	Enhancers	NHEK	skin
19	chr7:7869400-7870400	Enhancers	HMEC	breast
20	chr7:7869400-7874000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:7869600-7870400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:7869600-7870400	Enhancers	Stomach Mucosa	stomach
23	chr7:7869600-7870400	Enhancers	HepG2	liver
24	chr7:7869600-7870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:7869800-7870200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:7869800-7870200	Enhancers	Fetal Muscle Leg	muscle
27	chr7:7869800-7870400	Enhancers	Fetal Intestine Large	intestine
28	chr7:7869800-7874200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:7870000-7870400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:7870000-7871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:7870000-7874200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:7870000-7900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:7870200-7870400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:7870200-7870400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:7870200-7874200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:7870400-7871600	Weak transcription	HepG2	liver
37	chr7:7870400-7872400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:7870400-7875400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:7870600-7871000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:7870600-7871800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:7871000-7871800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:7871200-7871800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:7871200-7871800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:7871200-7872600	Enhancers	Brain Germinal Matrix	brain
45	chr7:7871600-7873400	Enhancers	HepG2	liver
46	chr7:7871800-7872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:7871800-7873000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:7872200-7873000	Strong transcription	Primary T cells from cord blood	blood
49	chr7:7872400-7873000	Enhancers	Fetal Intestine Large	intestine
50	chr7:7872600-7872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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