Variant report

Variant	esv3357823
Chromosome Location	chr11:9026347-9027351
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	BACH1	chr11:9025110-9026394	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr11:9026392-9026411	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr11:9025816-9026376	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr11:9024972-9026595	H1-hESC	embryonic stem cell:	n/a	chr11:9026285-9026294 chr11:9025568-9025575 chr11:9025293-9025302
5	E2F6	chr11:9025010-9026481	H1-hESC	embryonic stem cell:	n/a	chr11:9026285-9026294 chr11:9025568-9025575 chr11:9025293-9025302
6	IRF3	chr11:9026517-9026696	GM12878	blood:	n/a	n/a
7	JUN	chr11:9026276-9026384	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr11:9025042-9026568	H1-hESC	embryonic stem cell:	n/a	chr11:9026108-9026121 chr11:9026109-9026120 chr11:9026110-9026119 chr11:9026110-9026119 chr11:9026527-9026535 chr11:9026257-9026266 chr11:9026302-9026311
9	MAX	chr11:9026041-9026501	H1-hESC	embryonic stem cell:	n/a	chr11:9026108-9026121 chr11:9026109-9026120 chr11:9026110-9026119 chr11:9026110-9026119 chr11:9026257-9026266 chr11:9026302-9026311
10	MAX	chr11:9025027-9026564	H1-hESC	embryonic stem cell:	n/a	chr11:9026108-9026121 chr11:9026109-9026120 chr11:9026110-9026119 chr11:9026110-9026119 chr11:9026527-9026535 chr11:9026257-9026266 chr11:9026302-9026311
11	MYC	chr11:9026779-9026886	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr11:9026193-9026484	H1-hESC	embryonic stem cell:	n/a	chr11:9026257-9026266 chr11:9026302-9026311
13	SIN3A	chr11:9025973-9026531	H1-hESC	embryonic stem cell:	n/a	chr11:9026109-9026118 chr11:9026111-9026120
14	USF1	chr11:9025765-9026411	SK-N-SH	brain:	n/a	chr11:9025956-9025972 chr11:9026109-9026120 chr11:9025868-9025884
15	USF1	chr11:9025836-9026370	H1-hESC	embryonic stem cell:	n/a	chr11:9025956-9025972 chr11:9026109-9026120 chr11:9025868-9025884

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9026308-9026358	Hela-S3	cervix:	n/a
2	chr11:9026308-9026358	Jurkat	blood:	n/a
3	chr11:9026820-9026870	HCM	heart:	n/a
4	chr11:9026308-9026358	GM12878	blood:	n/a
5	chr11:9026308-9026358	Hepatocyte	liver:	n/a
6	chr11:9026308-9026358	T-47D	breast:	n/a
7	chr11:9026308-9026358	HCM	heart:	n/a
8	chr11:9026308-9026358	PrEC	prostate:	n/a
9	chr11:9026308-9026358	ProgFib	skin:	n/a
10	chr11:9026308-9026358	HepG2	liver:	n/a
11	chr11:9026820-9026870	GM19239	blood:	n/a
12	chr11:9026820-9026870	CMK	blood:	n/a
13	chr11:9026308-9026358	AG04450	lung:	fetal
14	chr11:9026308-9026358	HEEpiC	esophagus:	n/a
15	chr11:9026820-9026870	HRCEpiC	kidney:	n/a
16	chr11:9026308-9026358	HCT-116	colon:	n/a
17	chr11:9026820-9026870	PANC-1	pancreas:	n/a
18	chr11:9026308-9026358	PANC-1	pancreas:	n/a
19	chr11:9026308-9026358	HRPEpiC	eye:	n/a
20	chr11:9026308-9026358	MCF-7	breast:	n/a
21	chr11:9026820-9026870	SK-N-SH_RA	brain:	n/a
22	chr11:9026820-9026870	PrEC	prostate:	n/a
23	chr11:9026308-9026358	GM06990	blood:	n/a
24	chr11:9026308-9026358	MCF10A-Er-Src	breast:	n/a
25	chr11:9026308-9026358	AoSMC	blood vessel:	n/a
26	chr11:9026820-9026870	AoSMC	blood vessel:	n/a
27	chr11:9026308-9026358	NT2-D1	testis:	n/a
28	chr11:9026820-9026870	SK-N-MC	brain:	n/a
29	chr11:9026308-9026358	HEK293	kidney:	embryo
30	chr11:9026308-9026358	ECC-1	luminal epithelium:	n/a
31	chr11:9026820-9026870	ECC-1	luminal epithelium:	n/a
32	chr11:9026820-9026870	T-47D	breast:	n/a
33	chr11:9026820-9026870	MCF10A-Er-Src	breast:	n/a
34	chr11:9026308-9026358	A549	lung:	n/a
35	chr11:9026308-9026358	AG04449	skin:	fetal
36	chr11:9026308-9026358	HNPCEpiC	eye:	n/a
37	chr11:9026308-9026358	HL-60	blood:	n/a
38	chr11:9026308-9026358	HAEpiC	amniotic membrane:	n/a
39	chr11:9026820-9026870	HMEC	breast:	n/a
40	chr11:9026820-9026870	NT2-D1	testis:	n/a
41	chr11:9026308-9026358	NB4	blood:	n/a
42	chr11:9026308-9026358	SK-N-SH_RA	brain:	n/a
43	chr11:9026820-9026870	PFSK-1	brain:	n/a
44	chr11:9026308-9026358	AG09319	gingival:	n/a
45	chr11:9026820-9026870	HCPEpiC	choroid plexus:	n/a
46	chr11:9026820-9026870	U87	brain:	n/a
47	chr11:9026820-9026870	HUVEC	blood vessel:	n/a
48	chr11:9026308-9026358	LNCaP	prostate:	n/a
49	chr11:9026820-9026870	HAEpiC	amniotic membrane:	n/a
50	chr11:9026820-9026870	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8984349..8987280-chr11:9024480..9026486,3	K562	blood:
2	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
3	chr11:8713787..8716446-chr11:9025116..9027150,2	K562	blood:
4	chr11:9026840..9029249-chr11:9032131..9034982,2	MCF-7	breast:
5	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
6	chr11:9027002..9028615-chr11:9038847..9041783,2	K562	blood:

Variant related genes	Relation type
NRIP3	TF binding region
NRIP3	CpG island
ENSG00000254860	chromatin interactions
ENSG00000254665	chromatin interactions
ENSG00000166444	chromatin interactions
ENSG00000166452	chromatin interactions
ENSG00000175348	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77443602	chr11:9026361-9026362	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
2	rs557982167	chr11:9026402-9026403	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs141223229	chr11:9026445-9026446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs542526066	chr11:9026463-9026464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs188245956	chr11:9026489-9026490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs562339754	chr11:9026506-9026507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs531245914	chr11:9026509-9026510	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550854640	chr11:9026525-9026526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs74484822	chr11:9026538-9026539	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539657584	chr11:9026556-9026557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs547109282	chr11:9026571-9026572	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs566509619	chr11:9026592-9026593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs371482984	chr11:9026593-9026594	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535487927	chr11:9026622-9026623	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548991071	chr11:9026634-9026635	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs576450310	chr11:9026643-9026644	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs567982406	chr11:9026713-9026714	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537363466	chr11:9026754-9026755	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150739625	chr11:9026896-9026897	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs76060406	chr11:9026949-9026950	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
21	rs181062018	chr11:9026950-9026951	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184659091	chr11:9026953-9026954	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374713350	chr11:9026973-9026974	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1969627	chr11:9027032-9027033	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs572996370	chr11:9027034-9027035	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541811444	chr11:9027048-9027049	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189979677	chr11:9027052-9027053	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575961398	chr11:9027093-9027094	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139532572	chr11:9027206-9027207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536243724	chr11:9027226-9027227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535528352	chr11:9027272-9027273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556844086	chr11:9027299-9027300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201831547	chr11:9027337-9027338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373714732	chr11:9027342-9027343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377469719	chr11:9027343-9027344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67361705	chr11:9027344-9027345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10636622	chr11:9027345-9027346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370437918	chr11:9027346-9027347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9023800-9026600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:9024400-9026600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr11:9024600-9026400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
5	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
6	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:9024600-9026400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr11:9024600-9026600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr11:9024600-9027000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:9024800-9026400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:9024800-9026400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:9024800-9026600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:9025000-9026400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9025000-9026600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:9025000-9026600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:9025200-9026400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:9025200-9026400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:9025200-9026400	Active TSS	Primary T cells from cord blood	blood
19	chr11:9025200-9026400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:9025200-9026400	Bivalent/Poised TSS	HepG2	liver
21	chr11:9025200-9026600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:9025200-9026600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:9025200-9026600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:9025200-9026600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:9025200-9027000	Active TSS	Brain Angular Gyrus	brain
26	chr11:9025200-9027000	Active TSS	Brain Anterior Caudate	brain
27	chr11:9025400-9026600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr11:9025400-9026600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:9025400-9026600	Enhancers	Fetal Heart	heart
30	chr11:9025400-9026800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:9025400-9027000	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:9025600-9026400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr11:9025800-9026400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr11:9025800-9026400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:9026000-9026400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:9026000-9026400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:9026000-9026400	Active TSS	Right Ventricle	heart
38	chr11:9026000-9026400	Enhancers	Small Intestine	intestine
39	chr11:9026000-9026400	Enhancers	Spleen	Spleen
40	chr11:9026000-9026600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:9026200-9026400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:9026200-9026400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr11:9026200-9026400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:9026200-9026400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:9026200-9026400	Active TSS	Adipose Nuclei	Adipose
46	chr11:9026200-9026400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:9026200-9026400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
48	chr11:9026200-9026400	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:9026200-9026400	Bivalent/Poised TSS	Thymus	Thymus
50	chr11:9026200-9026400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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