Variant report

Variant	nsv873831
Chromosome Location	chr2:35013851-35092762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 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	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:35047276-35047302	K562	blood:	n/a	n/a
5	CEBPB	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
6	CHD2	chr2:35056030-35056177	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:35084833-35084876	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:35028761-35028786	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr2:35049467-35049473	GM12878	blood:	n/a	n/a
10	CTCF	chr2:35080300-35080370	Lung_OC	lung:	n/a	n/a
11	CTCF	chr2:35028378-35028458	GM13976	blood:	n/a	n/a
12	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
13	FAM48A	chr2:35069867-35070036	GM12878	blood:	n/a	n/a
14	FOXA2	chr2:35026638-35027075	A549	lung:	n/a	n/a
15	FOXP2	chr2:35059394-35059820	SK-N-MC	brain:	n/a	n/a
16	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
17	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
18	GATA3	chr2:35038335-35038514	SH-SY5Y	brain:	n/a	n/a
19	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
20	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
21	JUND	chr2:35023816-35023819	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr2:35063998-35064222	HepG2	liver:	n/a	n/a
23	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
24	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
25	MAFF	chr2:35047721-35048030	HepG2	liver:	n/a	n/a
26	MAFK	chr2:35047714-35048032	HepG2	liver:	n/a	chr2:35047926-35047935
27	MAFK	chr2:35047719-35048003	HepG2	liver:	n/a	chr2:35047926-35047935
28	MAFK	chr2:35047779-35047999	IMR90	lung:	n/a	chr2:35047926-35047935
29	MAFK	chr2:35074228-35074307	HepG2	liver:	n/a	n/a
30	MAZ	chr2:35024477-35024522	HepG2	liver:	n/a	n/a
31	MYC	chr2:35056332-35056355	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr2:35056308-35056446	MCF-7	breast:	n/a	n/a
33	MYC	chr2:35056306-35056307	MCF-7	breast:	n/a	n/a
34	MYC	chr2:35051318-35051518	MCF10A-Er-Src	breast:	n/a	chr2:35051387-35051396
35	NFIC	chr2:35053482-35053880	ECC-1	luminal epithelium:	n/a	n/a
36	NFYA	chr2:35052849-35052963	GM12878	blood:	n/a	n/a
37	NR3C1	chr2:35041451-35041854	A549	lung:	n/a	n/a
38	NR3C1	chr2:35041342-35041884	A549	lung:	n/a	n/a
39	NRF1	chr2:35076181-35076199	GM12878	blood:	n/a	n/a
40	NRF1	chr2:35040479-35040525	H1-hESC	embryonic stem cell:	n/a	n/a
41	PAX5	chr2:35041828-35042232	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:35058448-35058461	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:35080041-35080225	A549	lung:	n/a	n/a
44	POLR2A	chr2:35059437-35059978	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr2:35050048-35050394	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr2:35016338-35016548	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:35040179-35040251	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:35014892-35015053	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:35042030-35042150	ProgFib	skin:	n/a	n/a
50	POLR2A	chr2:35014885-35015056	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 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:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
2	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
3	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425
4	lnc-FAM98A-11	chr2:35076849-35077075	NONHSAT070061
5	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
6	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
7	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
8	lnc-CRIM1-1	chr2:35056430-35056559	XLOC_001425
9	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
10	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
11	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
12	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061
13	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
14	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: 3547 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3547 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17015647	chr2:35013851-35013852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547332105	chr2:35013853-35013854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567226096	chr2:35013881-35013882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529895457	chr2:35013892-35013893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549526737	chr2:35013943-35013944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569604566	chr2:35013979-35013980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538390450	chr2:35013994-35013995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183687834	chr2:35014033-35014034	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571918265	chr2:35014057-35014058	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534396655	chr2:35014067-35014068	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114277998	chr2:35014069-35014070	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543281299	chr2:35014085-35014086	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10171513	chr2:35014114-35014115	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188791442	chr2:35014115-35014116	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545209045	chr2:35014148-35014149	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549246674	chr2:35014149-35014150	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565034387	chr2:35014182-35014183	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527730640	chr2:35014209-35014210	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181225548	chr2:35014274-35014275	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560714045	chr2:35014309-35014310	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138212796	chr2:35014328-35014329	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115896520	chr2:35014354-35014355	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114583963	chr2:35014359-35014360	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10171796	chr2:35014390-35014391	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13028034	chr2:35014403-35014404	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185451571	chr2:35014431-35014432	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs72860494	chr2:35014433-35014434	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149547839	chr2:35014442-35014443	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189986985	chr2:35014445-35014446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144038136	chr2:35014446-35014447	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77714991	chr2:35014457-35014458	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559796114	chr2:35014465-35014466	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550264227	chr2:35014479-35014480	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567841360	chr2:35014528-35014529	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536574688	chr2:35014536-35014537	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556803565	chr2:35014537-35014538	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181620954	chr2:35014547-35014548	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545387083	chr2:35014607-35014608	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10172015	chr2:35014615-35014616	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572222158	chr2:35014638-35014639	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541097981	chr2:35014641-35014642	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560776810	chr2:35014653-35014654	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542230144	chr2:35014656-35014657	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10172221	chr2:35014657-35014658	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115557993	chr2:35014675-35014676	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530362655	chr2:35014684-35014685	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532267220	chr2:35014736-35014737	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552219831	chr2:35014755-35014756	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146097712	chr2:35014821-35014822	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114401424	chr2:35014856-35014857	Enhancers Active TSS Weak transcription	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach
2	chr2:35014000-35018000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35014400-35015000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:35014600-35019000	Weak transcription	Stomach Mucosa	stomach
5	chr2:35015000-35015400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:35015200-35016600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:35016600-35017400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:35017400-35017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr2:35017800-35019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:35018000-35019000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35019000-35019200	Enhancers	Stomach Mucosa	stomach
12	chr2:35019000-35019600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35019600-35019800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr2:35019600-35021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35019800-35020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:35020800-35021200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:35020800-35021800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:35021000-35021200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35021200-35025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35024600-35025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:35025600-35026000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:35025800-35026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:35029400-35029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:35031400-35032800	Enhancers	NHEK	skin
30	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
33	chr2:35034800-35035200	Enhancers	Gastric	stomach
34	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
35	chr2:35035200-35039400	Weak transcription	Gastric	stomach
36	chr2:35035400-35036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:35035400-35036000	Enhancers	Stomach Mucosa	stomach
38	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
39	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
41	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach
43	chr2:35039800-35040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35040000-35040800	Enhancers	Stomach Mucosa	stomach
45	chr2:35040200-35040600	Enhancers	Liver	Liver
46	chr2:35040200-35040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:35040800-35042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:35041200-35041400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:35041200-35041400	Enhancers	Gastric	stomach
50	chr2:35041200-35041600	Enhancers	Pancreas	Pancrea

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