Variant report

Variant	nsv975125
Chromosome Location	chr11:102175161-102176624
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	BRCA1	chr11:102176517-102179036	Hela-S3	cervix:	n/a	chr11:102176934-102176941
2	CHD2	chr11:102176605-102177875	Hela-S3	cervix:	n/a	chr11:102177113-102177123
3	CTCF	chr11:102176580-102176730	HCT-116	colon:	n/a	n/a
4	CTCF	chr11:102176420-102176570	A549	lung:	n/a	n/a
5	CTCF	chr11:102176480-102176630	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr11:102176440-102176590	BE2_C	brain:	n/a	n/a
7	ELK4	chr11:102176546-102177908	Hela-S3	cervix:	n/a	chr11:102177691-102177702
8	FOXA1	chr11:102176121-102176472	A549	lung:	n/a	n/a
9	GTF2F1	chr11:102176544-102178344	Hela-S3	cervix:	n/a	n/a
10	GTF3C2	chr11:102176619-102178597	Hela-S3	cervix:	n/a	n/a
11	MAFF	chr11:102175582-102175742	HepG2	liver:	n/a	n/a
12	MAFF	chr11:102176395-102176822	HepG2	liver:	n/a	chr11:102176579-102176593 chr11:102176580-102176598
13	MAFF	chr11:102176412-102176750	K562	blood:	n/a	chr11:102176579-102176593 chr11:102176580-102176598
14	MAFK	chr11:102176191-102178133	Hela-S3	cervix:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
15	MAFK	chr11:102176405-102176791	H1-hESC	embryonic stem cell:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
16	MAFK	chr11:102176414-102176774	IMR90	lung:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
17	MAFK	chr11:102176428-102176766	K562	blood:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
18	MAFK	chr11:102175624-102175627	HepG2	liver:	n/a	n/a
19	MAFK	chr11:102176403-102176815	HepG2	liver:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
20	MAFK	chr11:102176410-102176791	HepG2	liver:	n/a	chr11:102176576-102176596 chr11:102176581-102176596 chr11:102176579-102176593 chr11:102176578-102176594
21	MAX	chr11:102176568-102178683	Hela-S3	cervix:	n/a	chr11:102178365-102178375
22	MAZ	chr11:102176481-102178296	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:102176608-102176978	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:102175716-102178596	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:102175943-102177774	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:102176617-102178689	Raji	blood:	n/a	n/a
27	POLR2A	chr11:102176616-102177671	PANC-1	pancreas:	n/a	n/a
28	RCOR1	chr11:102176600-102178308	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr11:102176455-102178734	Hela-S3	cervix:	n/a	n/a
30	SMC3	chr11:102176589-102178374	Hela-S3	cervix:	n/a	n/a
31	SP1	chr11:102176588-102178306	A549	lung:	n/a	chr11:102177195-102177204 chr11:102177190-102177199
32	STAT3	chr11:102175937-102176094	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF12	chr11:102176588-102177886	A549	lung:	n/a	n/a
34	TCF7L2	chr11:102176422-102178399	PANC-1	pancreas:	n/a	chr11:102176608-102176618 chr11:102176608-102176615
35	TCF7L2	chr11:102176491-102178346	Hela-S3	cervix:	n/a	chr11:102176608-102176618 chr11:102176608-102176615
36	TFAP2A	chr11:102176385-102177941	Hela-S3	cervix:	n/a	chr11:102177099-102177114
37	TFAP2C	chr11:102176379-102177854	Hela-S3	cervix:	n/a	n/a
38	ZKSCAN1	chr11:102176469-102178306	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr11:102176602-102177610	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102175561..102178536-chr11:102186960..102189576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270868	TF binding region
ENSG00000023445	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548278615	chr11:102175204-102175205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186719902	chr11:102175220-102175221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192083105	chr11:102175245-102175246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77521477	chr11:102175301-102175302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571304558	chr11:102175308-102175309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571995815	chr11:102175322-102175323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537709214	chr11:102175324-102175325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550556719	chr11:102175333-102175334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567101716	chr11:102175348-102175349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs2846857	chr11:102175372-102175373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs371868406	chr11:102175379-102175380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182907709	chr11:102175385-102175386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115563283	chr11:102175416-102175417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186714394	chr11:102175434-102175435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558301863	chr11:102175606-102175607	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575184703	chr11:102175630-102175631	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143568885	chr11:102175633-102175634	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148107442	chr11:102175667-102175668	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141877219	chr11:102175669-102175670	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542993649	chr11:102175737-102175738	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559621183	chr11:102175744-102175745	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150223570	chr11:102175788-102175789	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199497907	chr11:102175819-102175820	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375111348	chr11:102175821-102175822	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201657743	chr11:102175841-102175842	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34486915	chr11:102175842-102175843	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199852417	chr11:102175843-102175844	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545635951	chr11:102175847-102175848	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139998252	chr11:102175861-102175862	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544580704	chr11:102175871-102175872	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200067256	chr11:102175872-102175873	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565435392	chr11:102175876-102175877	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76982821	chr11:102175896-102175897	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551034937	chr11:102175981-102175982	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567936298	chr11:102176045-102176046	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529689411	chr11:102176064-102176065	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556642803	chr11:102176108-102176109	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555448746	chr11:102176109-102176110	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs80217768	chr11:102176114-102176115	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566251301	chr11:102176136-102176137	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138791314	chr11:102176151-102176152	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs558334395	chr11:102176165-102176166	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113747943	chr11:102176181-102176182	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538036145	chr11:102176207-102176208	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1894113	chr11:102176231-102176232	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs1894114	chr11:102176250-102176251	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs182205175	chr11:102176258-102176259	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553371255	chr11:102176270-102176271	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573386920	chr11:102176346-102176347	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545468660	chr11:102176373-102176374	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102166200-102175600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:102170000-102176600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:102170600-102175200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:102171600-102176200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:102173200-102182400	Weak transcription	Gastric	stomach
6	chr11:102173400-102175200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:102173400-102175400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:102173600-102176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:102173600-102183800	Weak transcription	Lung	lung
10	chr11:102173800-102175400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:102173800-102176400	Weak transcription	Thymus	Thymus
12	chr11:102174200-102175400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr11:102174200-102176800	Enhancers	Primary B cells from cord blood	blood
14	chr11:102174400-102175200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:102174400-102175400	Enhancers	Dnd41	blood
16	chr11:102174400-102176400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:102174400-102177000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:102174400-102178400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:102174400-102178400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:102174600-102176600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:102174800-102176000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr11:102174800-102176000	Weak transcription	Stomach Mucosa	stomach
23	chr11:102174800-102176400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr11:102174800-102176400	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:102174800-102176600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:102174800-102177400	Enhancers	Primary T cells from cord blood	blood
27	chr11:102174800-102178400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:102174800-102179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:102175000-102175200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:102175000-102175400	Weak transcription	Fetal Thymus	thymus
31	chr11:102175000-102176600	Weak transcription	Spleen	Spleen
32	chr11:102175200-102175600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:102175200-102175600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:102175200-102176000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:102175200-102179800	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:102175400-102175600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:102175400-102175800	Enhancers	Small Intestine	intestine
38	chr11:102175400-102176000	Flanking Active TSS	Dnd41	blood
39	chr11:102175400-102176400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:102175400-102176400	Enhancers	Hela-S3	cervix
41	chr11:102175400-102176600	Enhancers	HMEC	breast
42	chr11:102175400-102177000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:102175400-102178400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:102175400-102178400	Enhancers	Fetal Thymus	thymus
45	chr11:102175600-102175800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:102175600-102175800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:102175600-102176000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:102175600-102176400	Enhancers	NHEK	skin
49	chr11:102175600-102178200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:102175600-102178800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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