Variant report

Variant	nsv556429
Chromosome Location	chr11:107786259-107798181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:107787486-107787504	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:107787485-107787505	HepG2	liver:	n/a	n/a
3	CHD2	chr11:107787469-107787640	GM12878	blood:	n/a	n/a
4	CTCF	chr11:107787761-107787910	HepG2	liver:	n/a	n/a
5	CTCF	chr11:107787400-107787550	GM12870	blood:	n/a	n/a
6	CTCF	chr11:107787400-107787550	AG09319	gingival:	n/a	n/a
7	CTCF	chr11:107787740-107787890	GM12875	blood:	n/a	n/a
8	CTCF	chr11:107787235-107787238	GM10266	blood:	n/a	n/a
9	CTCF	chr11:107787420-107787570	HMEC	breast:	n/a	n/a
10	CTCF	chr11:107787826-107787887	K562	blood:	n/a	n/a
11	CTCF	chr11:107787130-107788008	GM19238	blood:	n/a	n/a
12	CTCF	chr11:107787380-107787530	HMEC	breast:	n/a	n/a
13	CTCF	chr11:107787420-107787570	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr11:107787824-107787844	GM13976	blood:	n/a	n/a
15	CTCF	chr11:107787372-107787602	K562	blood:	n/a	n/a
16	CTCF	chr11:107787375-107787593	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:107787393-107787547	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr11:107787705-107787918	ProgFib	skin:	n/a	n/a
19	CTCF	chr11:107788094-107788142	Fibrobl	skin:	n/a	n/a
20	CTCF	chr11:107787400-107787550	SAEC	small airway:	n/a	n/a
21	CTCF	chr11:107787360-107787510	HVMF	connective:	n/a	n/a
22	CTCF	chr11:107787674-107787939	GM19239	blood:	n/a	n/a
23	CTCF	chr11:107787380-107787530	NHLF	lung:	n/a	n/a
24	CTCF	chr11:107787380-107787530	GM12872	blood:	n/a	n/a
25	CTCF	chr11:107787380-107787530	NB4	blood:	n/a	n/a
26	CTCF	chr11:107787354-107787589	ProgFib	skin:	n/a	n/a
27	CTCF	chr11:107787760-107787910	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr11:107787400-107787550	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:107787400-107787550	BJ	skin:	n/a	n/a
30	CTCF	chr11:107787700-107787850	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr11:107787400-107787550	HL-60	blood:	n/a	n/a
32	CTCF	chr11:107787713-107787947	Gliobla	brain:	n/a	n/a
33	CTCF	chr11:107787700-107787850	GM12878	blood:	n/a	n/a
34	CTCF	chr11:107787760-107787910	GM12872	blood:	n/a	n/a
35	CTCF	chr11:107787400-107787550	HRE	kidney:	n/a	n/a
36	CTCF	chr11:107787760-107787910	GM12874	blood:	n/a	n/a
37	CTCF	chr11:107788140-107788290	GM12872	blood:	n/a	n/a
38	CTCF	chr11:107787720-107787870	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:107788095-107788154	GM12892	blood:	n/a	n/a
40	CTCF	chr11:107787700-107787850	HMF	breast:	n/a	n/a
41	CTCF	chr11:107787343-107787648	Medullo	brain:	n/a	n/a
42	CTCF	chr11:107787295-107787657	GM12891	blood:	n/a	n/a
43	CTCF	chr11:107787328-107787651	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:107787308-107787655	GM19239	blood:	n/a	n/a
45	CTCF	chr11:107787400-107787550	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr11:107787334-107787628	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:107787400-107787550	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr11:107787380-107787530	GM12871	blood:	n/a	n/a
49	CTCF	chr11:107787700-107787850	GM12870	blood:	n/a	n/a
50	CTCF	chr11:107787420-107787570	GM06990	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107795699-107795749	AG04450	lung:	fetal
2	chr11:107795699-107795749	MCF-7	breast:	n/a
3	chr11:107795699-107795749	GM12878	blood:	n/a
4	chr11:107795699-107795749	SAEC	small airway:	n/a
5	chr11:107795699-107795749	PANC-1	pancreas:	n/a
6	chr11:107795699-107795749	PrEC	prostate:	n/a
7	chr11:107795699-107795749	LNCaP	prostate:	n/a
8	chr11:107795699-107795749	H1-hESC	embryonic stem cell:	embryo
9	chr11:107795699-107795749	HAEpiC	amniotic membrane:	n/a
10	chr11:107795699-107795749	HCPEpiC	choroid plexus:	n/a
11	chr11:107795699-107795749	RPTEC	kidney:	n/a
12	chr11:107795699-107795749	SK-N-SH_RA	brain:	n/a
13	chr11:107795699-107795749	GM12892	blood:	n/a
14	chr11:107795699-107795749	HEEpiC	esophagus:	n/a
15	chr11:107795699-107795749	GM12891	blood:	n/a
16	chr11:107795699-107795749	HepG2	liver:	n/a
17	chr11:107795699-107795749	SK-N-SH	brain:	n/a
18	chr11:107795699-107795749	CMK	blood:	n/a
19	chr11:107795699-107795749	AG09319	gingival:	n/a
20	chr11:107795699-107795749	NHBE	bronchial:	n/a
21	chr11:107795699-107795749	HRE	kidney:	n/a
22	chr11:107795699-107795749	HNPCEpiC	eye:	n/a
23	chr11:107795699-107795749	Hela-S3	cervix:	n/a
24	chr11:107795699-107795749	U87	brain:	n/a
25	chr11:107795699-107795749	HIPEpiC	eye:	n/a
26	chr11:107795699-107795749	HL-60	blood:	n/a
27	chr11:107795699-107795749	NHDF-neo	bronchial:	n/a
28	chr11:107795699-107795749	HCF	heart:	n/a
29	chr11:107795699-107795749	Hepatocyte	liver:	n/a
30	chr11:107795699-107795749	HCM	heart:	n/a
31	chr11:107795699-107795749	ProgFib	skin:	n/a
32	chr11:107795699-107795749	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:107795699-107795749	AG10803	skin:	n/a
34	chr11:107795699-107795749	AG04449	skin:	fetal
35	chr11:107795699-107795749	ovcar-3	ovarian:	n/a
36	chr11:107795699-107795749	HUVEC	blood vessel:	n/a
37	chr11:107795699-107795749	BJ	skin:	n/a
38	chr11:107795699-107795749	SK-N-MC	brain:	n/a
39	chr11:107795699-107795749	T-47D	breast:	n/a
40	chr11:107795699-107795749	GM19239	blood:	n/a
41	chr11:107795699-107795749	BE2_C	brain:	n/a
42	chr11:107795699-107795749	NH-A	brain:	n/a
43	chr11:107795699-107795749	Caco-2	colon:	n/a
44	chr11:107795699-107795749	HMEC	breast:	n/a
45	chr11:107795699-107795749	HRCEpiC	kidney:	n/a
46	chr11:107795699-107795749	HRPEpiC	eye:	n/a
47	chr11:107795699-107795749	MCF10A-Er-Src	breast:	n/a
48	chr11:107795699-107795749	GM06990	blood:	n/a
49	chr11:107795699-107795749	AoSMC	blood vessel:	n/a
50	chr11:107795699-107795749	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107724102..107726025-chr11:107793740..107795283,2	K562	blood:

No data

Variant related genes	Relation type
RAB39A	TF binding region
RAB39A	CpG island

Extended variants
information (count: 440 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113445514	chr11:107786278-107786279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552603111	chr11:107786380-107786381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193110450	chr11:107786416-107786417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534927233	chr11:107786531-107786532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138087655	chr11:107786632-107786633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11601990	chr11:107786655-107786656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114381790	chr11:107786699-107786700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568197277	chr11:107786710-107786711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142667655	chr11:107786719-107786720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556931859	chr11:107786807-107786808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530500753	chr11:107786886-107786887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550919307	chr11:107786955-107786956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112436381	chr11:107787022-107787023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183471404	chr11:107787047-107787048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188330430	chr11:107787058-107787059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559542837	chr11:107787087-107787088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529813467	chr11:107787088-107787089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs579782	chr11:107787126-107787127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541950440	chr11:107787197-107787198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376699221	chr11:107787209-107787210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191634202	chr11:107787248-107787249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78362998	chr11:107787318-107787319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111803566	chr11:107787407-107787408	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369137017	chr11:107787438-107787439	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570755122	chr11:107787530-107787531	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571031917	chr11:107787559-107787560	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116528495	chr11:107787626-107787627	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs539683014	chr11:107787628-107787629	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs143870805	chr11:107787646-107787647	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs568360759	chr11:107787761-107787762	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs148202966	chr11:107787790-107787791	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs557051861	chr11:107787792-107787793	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs373589942	chr11:107789023-107789024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116215834	chr11:107789076-107789077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147300409	chr11:107789097-107789098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73551404	chr11:107789102-107789103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189988615	chr11:107789166-107789167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7935188	chr11:107789173-107789174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115756759	chr11:107789209-107789210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs479793	chr11:107789211-107789212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115107711	chr11:107789254-107789255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533226208	chr11:107789271-107789272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11342960	chr11:107789277-107789278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141022136	chr11:107789297-107789298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377464598	chr11:107789298-107789299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111363949	chr11:107789361-107789362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181186191	chr11:107789401-107789402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185595444	chr11:107789403-107789404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371204653	chr11:107789423-107789424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376873472	chr11:107789450-107789451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	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
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107785000-107786400	Enhancers	Placenta	Placenta
2	chr11:107786400-107787600	Weak transcription	Placenta	Placenta
3	chr11:107787200-107787800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:107787200-107787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:107787400-107787800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr11:107787600-107787800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:107787600-107787800	Bivalent Enhancer	Brain Angular Gyrus	brain
8	chr11:107787600-107787800	Enhancers	Placenta	Placenta
9	chr11:107789000-107798400	Weak transcription	Right Atrium	heart
10	chr11:107791800-107792600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:107794600-107796000	Enhancers	GM12878-XiMat	blood
12	chr11:107795800-107798600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:107796000-107798200	Weak transcription	GM12878-XiMat	blood
14	chr11:107797800-107798600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr11:107798000-107798400	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr11:107798000-107798400	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:107798000-107798400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:107798000-107798400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:107798000-107798600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:107798000-107798600	Bivalent Enhancer	Primary T cells from cord blood	blood
21	chr11:107798000-107798600	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links