Variant report

Variant	esv3336346
Chromosome Location	chr11:68175876-68177824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:68177617-68177627	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:68177628-68177800	HepG2	liver:	n/a	n/a
3	STAT3	chr11:68175960-68176122	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:68176220-68176270	HIPEpiC	eye:	n/a
2	chr11:68177462-68177512	A549	lung:	n/a
3	chr11:68177631-68177681	HEEpiC	esophagus:	n/a
4	chr11:68177462-68177512	HRPEpiC	eye:	n/a
5	chr11:68176220-68176270	BJ	skin:	n/a
6	chr11:68177462-68177512	Jurkat	blood:	n/a
7	chr11:68177462-68177512	AG09319	gingival:	n/a
8	chr11:68177631-68177681	AG04449	skin:	fetal
9	chr11:68177462-68177512	HL-60	blood:	n/a
10	chr11:68177462-68177512	SKMC	muscle:	n/a
11	chr11:68177462-68177512	HEEpiC	esophagus:	n/a
12	chr11:68177524-68177574	NHDF-neo	bronchial:	n/a
13	chr11:68176220-68176270	GM06990	blood:	n/a
14	chr11:68177631-68177681	HL-60	blood:	n/a
15	chr11:68177524-68177574	HMEC	breast:	n/a
16	chr11:68177631-68177681	NH-A	brain:	n/a
17	chr11:68177631-68177681	HCT-116	colon:	n/a
18	chr11:68176220-68176270	HRE	kidney:	n/a
19	chr11:68177524-68177574	AG04449	skin:	fetal
20	chr11:68177631-68177681	GM12878	blood:	n/a
21	chr11:68176220-68176270	HL-60	blood:	n/a
22	chr11:68177631-68177681	HMEC	breast:	n/a
23	chr11:68177462-68177512	HMEC	breast:	n/a
24	chr11:68177524-68177574	GM19239	blood:	n/a
25	chr11:68177631-68177681	Caco-2	colon:	n/a
26	chr11:68176220-68176270	A549	lung:	n/a
27	chr11:68176220-68176270	SK-N-SH_RA	brain:	n/a
28	chr11:68177524-68177574	GM12891	blood:	n/a
29	chr11:68177631-68177681	MCF-7	breast:	n/a
30	chr11:68177631-68177681	HRE	kidney:	n/a
31	chr11:68177524-68177574	MCF10A-Er-Src	breast:	n/a
32	chr11:68177524-68177574	PrEC	prostate:	n/a
33	chr11:68177462-68177512	SK-N-MC	brain:	n/a
34	chr11:68176220-68176270	GM12891	blood:	n/a
35	chr11:68177631-68177681	HCM	heart:	n/a
36	chr11:68177631-68177681	HUVEC	blood vessel:	n/a
37	chr11:68177524-68177574	PANC-1	pancreas:	n/a
38	chr11:68176220-68176270	AG09309	skin:	n/a
39	chr11:68177462-68177512	T-47D	breast:	n/a
40	chr11:68177462-68177512	PFSK-1	brain:	n/a
41	chr11:68177631-68177681	HAEpiC	amniotic membrane:	n/a
42	chr11:68176220-68176270	AG10803	skin:	n/a
43	chr11:68177524-68177574	HNPCEpiC	eye:	n/a
44	chr11:68177631-68177681	PANC-1	pancreas:	n/a
45	chr11:68177462-68177512	AG04450	lung:	fetal
46	chr11:68177631-68177681	SK-N-MC	brain:	n/a
47	chr11:68177631-68177681	T-47D	breast:	n/a
48	chr11:68177524-68177574	K562	blood:	n/a
49	chr11:68177631-68177681	ECC-1	luminal epithelium:	n/a
50	chr11:68177524-68177574	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68080900..68083715-chr11:68174598..68176455,2	MCF-7	breast:
2	chr11:68177783..68180880-chr11:68182528..68185254,6	K562	blood:

No data

Variant related genes	Relation type
LRP5	TF binding region
LRP5	CpG island

Extended variants
information (count: 109 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7102451	chr11:68175927-68175928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538438505	chr11:68175988-68175989	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs76884287	chr11:68176016-68176017	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575314769	chr11:68176071-68176072	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376476343	chr11:68176088-68176089	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560943271	chr11:68176101-68176102	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572466734	chr11:68176126-68176127	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371067748	chr11:68176190-68176191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140172569	chr11:68176225-68176226	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs574771100	chr11:68176237-68176238	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs77446569	chr11:68176253-68176254	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs142832486	chr11:68176301-68176302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568290966	chr11:68176340-68176341	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186864499	chr11:68176352-68176353	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151034972	chr11:68176362-68176363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73515073	chr11:68176373-68176374	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548348745	chr11:68176377-68176378	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566883244	chr11:68176449-68176450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527678293	chr11:68176489-68176490	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552952340	chr11:68176496-68176497	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6591339	chr11:68176512-68176513	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11228229	chr11:68176514-68176515	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148072746	chr11:68176520-68176521	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542675439	chr11:68176532-68176533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561891742	chr11:68176533-68176534	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560446583	chr11:68176534-68176535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57069059	chr11:68176535-68176536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369389877	chr11:68176537-68176538	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56313695	chr11:68176539-68176540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7926206	chr11:68176541-68176542	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200549864	chr11:68176543-68176544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111426094	chr11:68176549-68176550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71043432	chr11:68176557-68176558	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374247473	chr11:68176563-68176564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201493195	chr11:68176564-68176565	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4930574	chr11:68176565-68176566	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200805399	chr11:68176569-68176570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71043433	chr11:68176570-68176571	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541877000	chr11:68176622-68176623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28733873	chr11:68176675-68176676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11607640	chr11:68176677-68176678	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35128647	chr11:68176696-68176697	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397768214	chr11:68176700-68176701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140991681	chr11:68176783-68176784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56400711	chr11:68176803-68176804	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs536353791	chr11:68176850-68176851	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554232947	chr11:68176873-68176874	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572548483	chr11:68176914-68176915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200031479	chr11:68176925-68176926	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142452832	chr11:68176952-68176953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
small cell lung cancer	17426248	CNVD
Gastric cancer	18160780	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:68149600-68180400	Weak transcription	NHLF	lung
5	chr11:68157200-68196600	Weak transcription	NH-A	brain
6	chr11:68157600-68180400	Weak transcription	Osteobl	bone
7	chr11:68159200-68177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:68165800-68178400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:68167200-68179600	Weak transcription	K562	blood
10	chr11:68167400-68177600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:68167600-68177400	Weak transcription	Brain Substantia Nigra	brain
12	chr11:68167600-68177400	Weak transcription	Placenta	Placenta
13	chr11:68167800-68178600	Weak transcription	Psoas Muscle	Psoas
14	chr11:68167800-68181000	Weak transcription	Small Intestine	intestine
15	chr11:68167800-68196600	Weak transcription	Fetal Brain Male	brain
16	chr11:68168400-68185000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:68168400-68189000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:68168600-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:68168600-68188800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:68168600-68188800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:68168600-68193600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:68168600-68195600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:68169000-68193600	Strong transcription	Fetal Intestine Small	intestine
24	chr11:68169200-68180200	Strong transcription	Fetal Stomach	stomach
25	chr11:68169200-68180800	Strong transcription	Adipose Nuclei	Adipose
26	chr11:68169400-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:68169400-68181600	Strong transcription	Thymus	Thymus
28	chr11:68169400-68196600	Weak transcription	Right Atrium	heart
29	chr11:68169600-68188200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:68169600-68196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:68171400-68177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:68171400-68178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:68171600-68177400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:68171600-68177400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:68171800-68179600	Weak transcription	Fetal Kidney	kidney
36	chr11:68172000-68177000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:68172000-68177200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:68172000-68177400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:68172000-68177400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:68172000-68177400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:68172000-68177400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:68172000-68177400	Weak transcription	Spleen	Spleen
43	chr11:68172200-68177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:68172200-68178600	Weak transcription	HSMM	muscle
45	chr11:68172200-68180200	Weak transcription	NHDF-Ad	bronchial
46	chr11:68173000-68184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:68173000-68188400	Strong transcription	Dnd41	blood
48	chr11:68173200-68176400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:68173400-68176600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:68173400-68184200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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