Variant report

Variant	nsv966729
Chromosome Location	chr7:105429482-105434138
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105432556..105435374-chr7:105729763..105732401,2	K562	blood:
2	chr7:105427810..105430751-chr7:105453985..105456543,2	MCF-7	breast:
3	chr7:105418693..105422569-chr7:105427730..105430708,5	MCF-7	breast:
4	chr7:105426154..105428163-chr7:105432313..105434778,2	MCF-7	breast:
5	chr7:105433793..105435383-chr7:105437753..105439269,2	K562	blood:
6	chr7:105415180..105417075-chr7:105431000..105432796,2	MCF-7	breast:
7	chr7:105399767..105402138-chr7:105432954..105434562,2	K562	blood:
8	chr7:105432350..105434040-chr7:105443762..105445723,2	MCF-7	breast:
9	chr7:105430215..105433672-chr7:105435231..105437353,3	MCF-7	breast:
10	chr7:105416753..105418699-chr7:105427328..105430037,2	MCF-7	breast:
11	chr7:105429881..105433369-chr7:105434267..105438778,5	K562	blood:
12	chr7:105425456..105428881-chr7:105429219..105433069,3	K562	blood:
13	chr7:105432314..105434167-chr7:105454769..105456448,2	MCF-7	breast:

No data

Extended variants
information (count: 192 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551471348	chr7:105429513-105429514	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539413435	chr7:105429515-105429516	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546610991	chr7:105429540-105429541	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569698798	chr7:105429544-105429545	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566774790	chr7:105429605-105429606	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115970097	chr7:105429725-105429726	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs533332	chr7:105429800-105429801	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs199504477	chr7:105429886-105429887	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180930572	chr7:105429888-105429889	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377655491	chr7:105429892-105429893	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375218773	chr7:105429896-105429897	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150629099	chr7:105429913-105429914	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550249269	chr7:105429945-105429946	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577038357	chr7:105429970-105429971	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373013077	chr7:105430014-105430015	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545770974	chr7:105430033-105430034	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs510382	chr7:105430034-105430035	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139772667	chr7:105430036-105430037	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542189599	chr7:105430062-105430063	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561707195	chr7:105430081-105430082	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530765032	chr7:105430137-105430138	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544091219	chr7:105430160-105430161	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560652269	chr7:105430237-105430238	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530411353	chr7:105430302-105430303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533253150	chr7:105430354-105430355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546547859	chr7:105430361-105430362	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75638218	chr7:105430373-105430374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368942378	chr7:105430381-105430382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529522801	chr7:105430406-105430407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549685279	chr7:105430440-105430441	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186148612	chr7:105430459-105430460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371001245	chr7:105430546-105430547	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538409060	chr7:105430553-105430554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs668647	chr7:105430582-105430583	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570524086	chr7:105430590-105430591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534874331	chr7:105430629-105430630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149809971	chr7:105430633-105430634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147189450	chr7:105430646-105430647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572901689	chr7:105430695-105430696	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541740098	chr7:105430698-105430699	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372257340	chr7:105430734-105430735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189435280	chr7:105430751-105430752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575470677	chr7:105430753-105430754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544347368	chr7:105430754-105430755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563946852	chr7:105430839-105430840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533240962	chr7:105430848-105430849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374647094	chr7:105430858-105430859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114433262	chr7:105430861-105430862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560100881	chr7:105430873-105430874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369303680	chr7:105430931-105430932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105359800-105438600	Weak transcription	Pancreas	Pancrea
2	chr7:105384600-105438600	Weak transcription	Spleen	Spleen
3	chr7:105385000-105434800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:105389000-105432400	Weak transcription	Esophagus	oesophagus
5	chr7:105400600-105438400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:105400800-105436800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:105411200-105435400	Weak transcription	Right Atrium	heart
8	chr7:105414400-105432800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:105414800-105443600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:105416800-105433800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:105417200-105441800	Weak transcription	HepG2	liver
12	chr7:105417400-105439200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:105417800-105430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:105418000-105435400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:105418200-105432400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:105418200-105440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:105418400-105435400	Weak transcription	Right Ventricle	heart
18	chr7:105418400-105436000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:105418400-105439200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:105418400-105446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:105418600-105431600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:105418600-105435000	Weak transcription	Liver	Liver
23	chr7:105418600-105435200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:105420600-105435400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:105420800-105439600	Weak transcription	Psoas Muscle	Psoas
26	chr7:105421200-105437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:105421600-105435000	Weak transcription	Fetal Lung	lung
28	chr7:105421600-105435600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:105422000-105452000	Weak transcription	Colonic Mucosa	Colon
30	chr7:105423000-105435200	Weak transcription	Small Intestine	intestine
31	chr7:105423200-105432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:105423200-105440400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:105423400-105437600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:105423600-105432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:105424000-105433400	Weak transcription	HUVEC	blood vessel
36	chr7:105424000-105434600	Weak transcription	NHLF	lung
37	chr7:105424000-105435000	Weak transcription	Osteobl	bone
38	chr7:105424400-105430200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:105424400-105430400	Strong transcription	Fetal Stomach	stomach
40	chr7:105424600-105433200	Strong transcription	Fetal Intestine Small	intestine
41	chr7:105424800-105429800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:105425000-105432200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:105425000-105437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:105425400-105435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:105426400-105429600	Strong transcription	Primary T cells from cord blood	blood
46	chr7:105426400-105435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:105426400-105440800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:105426600-105429600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:105427000-105430200	Strong transcription	Aorta	Aorta
50	chr7:105427000-105435200	Weak transcription	Fetal Brain Male	brain

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