Variant report

Variant	esv1837864
Chromosome Location	chr2:35030699-35115979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:35041098-35041398	K562	blood:	n/a	n/a
2	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:35047276-35047302	K562	blood:	n/a	n/a
5	CEBPB	chr2:35100004-35100077	A549	lung:	n/a	n/a
6	CEBPB	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
7	CHD2	chr2:35056030-35056177	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:35096420-35096570	HAc	cerebellar:	n/a	n/a
9	CTCF	chr2:35105912-35105977	GM10248	blood:	n/a	n/a
10	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr2:35049467-35049473	GM12878	blood:	n/a	n/a
12	CTCF	chr2:35080300-35080370	Lung_OC	lung:	n/a	n/a
13	CTCF	chr2:35084833-35084876	Kidney_OC	kidney:	n/a	n/a
14	E2F4	chr2:35100372-35100421	GM12878	blood:	n/a	n/a
15	FAM48A	chr2:35069867-35070036	GM12878	blood:	n/a	n/a
16	FOXP2	chr2:35059394-35059820	SK-N-MC	brain:	n/a	n/a
17	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
18	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
19	GATA3	chr2:35038335-35038514	SH-SY5Y	brain:	n/a	n/a
20	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
21	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
22	JUND	chr2:35063998-35064222	HepG2	liver:	n/a	n/a
23	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
24	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
25	MAFF	chr2:35047721-35048030	HepG2	liver:	n/a	n/a
26	MAFK	chr2:35047779-35047999	IMR90	lung:	n/a	chr2:35047926-35047935
27	MAFK	chr2:35047714-35048032	HepG2	liver:	n/a	chr2:35047926-35047935
28	MAFK	chr2:35047719-35048003	HepG2	liver:	n/a	chr2:35047926-35047935
29	MAFK	chr2:35074228-35074307	HepG2	liver:	n/a	n/a
30	MYC	chr2:35051318-35051518	MCF10A-Er-Src	breast:	n/a	chr2:35051387-35051396
31	MYC	chr2:35056306-35056307	MCF-7	breast:	n/a	n/a
32	MYC	chr2:35056308-35056446	MCF-7	breast:	n/a	n/a
33	MYC	chr2:35056332-35056355	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr2:35097019-35097426	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr2:35094805-35095057	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr2:35104989-35105116	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr2:35053482-35053880	ECC-1	luminal epithelium:	n/a	n/a
38	NFYA	chr2:35052849-35052963	GM12878	blood:	n/a	n/a
39	NR3C1	chr2:35041342-35041884	A549	lung:	n/a	n/a
40	NR3C1	chr2:35041451-35041854	A549	lung:	n/a	n/a
41	NRF1	chr2:35076181-35076199	GM12878	blood:	n/a	n/a
42	NRF1	chr2:35040479-35040525	H1-hESC	embryonic stem cell:	n/a	n/a
43	PAX5	chr2:35041828-35042232	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:35049530-35049730	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr2:35052543-35052699	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:35080041-35080225	A549	lung:	n/a	n/a
47	POLR2A	chr2:35042070-35042295	A549	lung:	n/a	n/a
48	POLR2A	chr2:35105202-35105390	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:35042030-35042150	ProgFib	skin:	n/a	n/a
50	POLR2A	chr2:35097777-35097871	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
2	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
3	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
4	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
2	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
3	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
4	lnc-FAM98A-11	chr2:35076849-35077075	NONHSAT070061
5	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
6	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
7	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061
8	lnc-CRIM1-1	chr2:35056430-35056559	XLOC_001425
9	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
10	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
11	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
12	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
13	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3

No data

Variant related genes	Relation type
ENSG00000226994	TF binding region
RN7SL602P	TF binding region
NAP1L1	miRNA target sites

Extended variants
information (count: 3125 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3125 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11694339	chr2:35030699-35030700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113655015	chr2:35030716-35030717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549417063	chr2:35030724-35030725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186265576	chr2:35030740-35030741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537871233	chr2:35030766-35030767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114642226	chr2:35030770-35030771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190637784	chr2:35030800-35030801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35110571	chr2:35030839-35030840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534015589	chr2:35030852-35030853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78385054	chr2:35030867-35030868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553595413	chr2:35030868-35030869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556401133	chr2:35030869-35030870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113031554	chr2:35030905-35030906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536404869	chr2:35030945-35030946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571750021	chr2:35030960-35030961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186478451	chr2:35030973-35030974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576257443	chr2:35030987-35030988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375783806	chr2:35031011-35031012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544706817	chr2:35031021-35031022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111636546	chr2:35031037-35031038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564858917	chr2:35031044-35031045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572212466	chr2:35031068-35031069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72861931	chr2:35031079-35031080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560919930	chr2:35031080-35031081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145933289	chr2:35031082-35031083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370865988	chr2:35031089-35031090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72861933	chr2:35031114-35031115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191867140	chr2:35031119-35031120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532013573	chr2:35031134-35031135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551523178	chr2:35031212-35031213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571300764	chr2:35031233-35031234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533884723	chr2:35031273-35031274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568510616	chr2:35031288-35031289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375805978	chr2:35031323-35031324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149736774	chr2:35031349-35031350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567386464	chr2:35031388-35031389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540146083	chr2:35031411-35031412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182955755	chr2:35031415-35031416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11679189	chr2:35031422-35031423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116496180	chr2:35031431-35031432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376605324	chr2:35031460-35031461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537199765	chr2:35031461-35031462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187546388	chr2:35031469-35031470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558634216	chr2:35031470-35031471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572073822	chr2:35031533-35031534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540988228	chr2:35031538-35031539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573571764	chr2:35031541-35031542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560983284	chr2:35031544-35031545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574448447	chr2:35031554-35031555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542883608	chr2:35031588-35031589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:35031400-35032800	Enhancers	NHEK	skin
7	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
10	chr2:35034800-35035200	Enhancers	Gastric	stomach
11	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
12	chr2:35035200-35039400	Weak transcription	Gastric	stomach
13	chr2:35035400-35036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35035400-35036000	Enhancers	Stomach Mucosa	stomach
15	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
16	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
18	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach
20	chr2:35039800-35040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35040000-35040800	Enhancers	Stomach Mucosa	stomach
22	chr2:35040200-35040600	Enhancers	Liver	Liver
23	chr2:35040200-35040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:35040800-35042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:35041200-35041400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:35041200-35041400	Enhancers	Gastric	stomach
27	chr2:35041200-35041600	Enhancers	Pancreas	Pancrea
28	chr2:35041400-35044400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:35044400-35044600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:35046600-35047800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:35047800-35056200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:35055800-35056000	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:35056000-35056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:35056000-35056600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:35056000-35056600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:35056000-35056600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:35056000-35056800	Active TSS	Brain Angular Gyrus	brain
38	chr2:35056000-35056800	Active TSS	Brain Anterior Caudate	brain
39	chr2:35056000-35056800	Active TSS	Brain Cingulate Gyrus	brain
40	chr2:35056000-35056800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:35056000-35057000	Active TSS	Brain Hippocampus Middle	brain
42	chr2:35056000-35057000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:35056000-35057000	Active TSS	Brain Substantia Nigra	brain
44	chr2:35056200-35056400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:35056200-35056600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:35056200-35056600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:35056200-35056600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:35056200-35056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:35056200-35056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:35056200-35056800	Enhancers	HUES64 Cell Line	embryonic stem cell

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