Variant report

Variant	nsv948139
Chromosome Location	chr10:93966694-93969883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:93968506-93968903	SK-N-SH_RA	brain:	n/a	n/a
2	FOSL2	chr10:93968396-93968975	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr10:93968494-93968992	MCF-7	breast:	n/a	n/a
4	GATA3	chr10:93968475-93969109	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr10:93968387-93969091	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr10:93967762-93967825	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr10:93968369-93969003	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr10:93968559-93968977	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr10:93967417-93967644	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:93968262-93968459	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr10:93967136-93967142	K562	blood:	n/a	n/a
12	SPI1	chr10:93968126-93968388	HL-60	blood:	n/a	n/a
13	TCF12	chr10:93968491-93969094	SK-N-SH	brain:	n/a	n/a
14	ZNF263	chr10:93968485-93968846	HEK293-T-REx	kidney:	n/a	chr10:93968665-93968686
15	ZNF384	chr10:93968294-93968473	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:93958713..93960977-chr10:93966306..93968107,2	MCF-7	breast:
2	chr10:93967344..93971211-chr10:94049163..94052466,3	MCF-7	breast:
3	chr10:93969866..93972797-chr10:93997351..93999951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221042	TF binding region
ENSG00000107864	chromatin interactions
ENSG00000198060	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569507855	chr10:93966742-93966743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531692049	chr10:93966801-93966802	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551901701	chr10:93966805-93966806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547664840	chr10:93966856-93966857	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571544037	chr10:93966927-93966928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191803271	chr10:93966928-93966929	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531761026	chr10:93966932-93966933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73318005	chr10:93966991-93966992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116986974	chr10:93967033-93967034	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555124807	chr10:93967197-93967198	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575124626	chr10:93967216-93967217	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537540870	chr10:93967227-93967228	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557874311	chr10:93967275-93967276	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184091790	chr10:93967298-93967299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540246368	chr10:93967336-93967337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560735367	chr10:93967344-93967345	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372612099	chr10:93967354-93967355	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35907653	chr10:93967389-93967390	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145917131	chr10:93967392-93967393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543371322	chr10:93967395-93967396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563071998	chr10:93967411-93967412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531976378	chr10:93967481-93967482	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs551545286	chr10:93967512-93967513	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538998767	chr10:93967560-93967561	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs558702629	chr10:93967602-93967603	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530528165	chr10:93967606-93967607	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs188937257	chr10:93967628-93967629	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs191411799	chr10:93967643-93967644	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs191893651	chr10:93967681-93967682	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138232225	chr10:93967702-93967703	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376954156	chr10:93967746-93967747	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538052899	chr10:93967763-93967764	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs557541195	chr10:93967809-93967810	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577684502	chr10:93967887-93967888	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533685612	chr10:93967888-93967889	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553781058	chr10:93968074-93968075	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149583201	chr10:93968101-93968102	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564130135	chr10:93968110-93968111	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111638204	chr10:93968171-93968172	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs148296649	chr10:93968186-93968187	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs142295563	chr10:93968218-93968219	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs61875219	chr10:93968338-93968339	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550805255	chr10:93968341-93968342	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs545603739	chr10:93968349-93968350	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs11358111	chr10:93968351-93968352	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs79632711	chr10:93968368-93968369	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs77534267	chr10:93968370-93968371	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs61875220	chr10:93968372-93968373	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565198607	chr10:93968429-93968430	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs527767393	chr10:93968483-93968484	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93926400-93976000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:93926600-93976000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:93926800-93982400	Weak transcription	HSMMtube	muscle
4	chr10:93927000-93970800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:93927200-93967600	Weak transcription	Adipose Nuclei	Adipose
6	chr10:93927200-93980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:93927400-93970800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
9	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
10	chr10:93929400-93967800	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:93934200-93976200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:93940200-93971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:93940600-93970800	Weak transcription	Fetal Stomach	stomach
14	chr10:93941800-93968000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:93941800-93971200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:93947800-93967800	Weak transcription	GM12878-XiMat	blood
17	chr10:93956200-93967000	Weak transcription	Fetal Heart	heart
18	chr10:93958200-93968400	Weak transcription	Right Atrium	heart
19	chr10:93958400-93967600	Weak transcription	Brain Anterior Caudate	brain
20	chr10:93958400-93981000	Weak transcription	Psoas Muscle	Psoas
21	chr10:93958800-93967000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:93958800-93967000	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:93959000-93969800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:93959000-93985800	Weak transcription	Brain Substantia Nigra	brain
25	chr10:93960800-93967000	Weak transcription	K562	blood
26	chr10:93960800-93970000	Weak transcription	Hela-S3	cervix
27	chr10:93960800-93970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr10:93960800-93976000	Weak transcription	Gastric	stomach
29	chr10:93961000-93990800	Weak transcription	Spleen	Spleen
30	chr10:93961600-93972200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:93962000-93967000	Weak transcription	Stomach Mucosa	stomach
32	chr10:93962000-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:93963000-93976400	Weak transcription	Aorta	Aorta
34	chr10:93964000-93967400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:93964200-93967400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:93964200-93968400	Weak transcription	Esophagus	oesophagus
37	chr10:93964200-93968400	Weak transcription	Pancreas	Pancrea
38	chr10:93964200-93976200	Weak transcription	Right Ventricle	heart
39	chr10:93964200-93993000	Weak transcription	Fetal Brain Female	brain
40	chr10:93964200-93996000	Weak transcription	Brain Germinal Matrix	brain
41	chr10:93964200-93997600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:93964400-93970000	Weak transcription	Brain Angular Gyrus	brain
43	chr10:93964400-93982400	Weak transcription	HSMM	muscle
44	chr10:93964800-93966800	Weak transcription	Left Ventricle	heart
45	chr10:93965000-93970000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:93966200-93967400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr10:93966200-93967400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr10:93966400-93986200	Weak transcription	Ovary	ovary
49	chr10:93966800-93967600	Genic enhancers	Left Ventricle	heart
50	chr10:93967000-93967400	Enhancers	Fetal Heart	heart

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