Variant report

Variant	nsv873826
Chromosome Location	chr2:34915314-34986833
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	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
4	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
6	CTCF	chr2:34963873-34964003	Gliobla	brain:	n/a	n/a
7	CTCF	chr2:34951080-34951409	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
8	CTCF	chr2:34963860-34964010	GM12878	blood:	n/a	n/a
9	CTCF	chr2:34963860-34964010	GM12873	blood:	n/a	n/a
10	CTCF	chr2:34944340-34944490	RPTEC	kidney:	n/a	n/a
11	CTCF	chr2:34963800-34963950	HEK293	kidney:	n/a	chr2:34963821-34963828
12	CTCF	chr2:34951187-34951269	GM12878	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
13	CTCF	chr2:34978760-34978910	WERI-Rb-1	eye:	n/a	chr2:34978801-34978809 chr2:34978798-34978819 chr2:34978797-34978813 chr2:34978799-34978812 chr2:34978796-34978814
14	CTCF	chr2:34963860-34964010	GM12866	blood:	n/a	n/a
15	CTCF	chr2:34951100-34951250	BE2_C	brain:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
16	CTCF	chr2:34951120-34951270	GM12872	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
17	CTCF	chr2:34964040-34964190	HPF	lung:	n/a	n/a
18	CTCF	chr2:34963784-34964024	HepG2	liver:	n/a	chr2:34963821-34963828
19	CTCF	chr2:34963880-34964030	GM12872	blood:	n/a	n/a
20	CTCF	chr2:34963882-34964032	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:34963880-34964030	GM12878	blood:	n/a	n/a
22	CTCF	chr2:34963880-34964031	Medullo	brain:	n/a	n/a
23	CTCF	chr2:34963880-34964030	GM12873	blood:	n/a	n/a
24	CTCF	chr2:34963880-34964030	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr2:34951160-34951310	HRE	kidney:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
26	CTCF	chr2:34963860-34964010	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:34963840-34963990	A549	lung:	n/a	n/a
28	CTCF	chr2:34963740-34964030	HL-60	blood:	n/a	chr2:34963821-34963828
29	CTCF	chr2:34963880-34964030	HepG2	liver:	n/a	n/a
30	CTCF	chr2:34963780-34963930	GM12865	blood:	n/a	chr2:34963821-34963828
31	CTCF	chr2:34951136-34951230	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
32	CTCF	chr2:34963900-34964050	A549	lung:	n/a	n/a
33	CTCF	chr2:34963873-34963992	K562	blood:	n/a	n/a
34	CTCF	chr2:34963880-34964030	Caco-2	colon:	n/a	n/a
35	CTCF	chr2:34963882-34964054	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr2:34951080-34951230	HEEpiC	esophagus:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
37	CTCF	chr2:34963821-34963995	HepG2	liver:	n/a	chr2:34963821-34963828
38	CTCF	chr2:34963870-34964018	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:34963900-34964050	HRE	kidney:	n/a	n/a
40	CTCF	chr2:34963720-34963870	GM12864	blood:	n/a	chr2:34963821-34963828
41	CTCF	chr2:34963881-34964029	GM10266	blood:	n/a	n/a
42	CTCF	chr2:34963880-34964030	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:34963960-34964110	HAc	cerebellar:	n/a	n/a
44	CTCF	chr2:34963861-34964038	HepG2	liver:	n/a	n/a
45	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828
46	CTCF	chr2:34944385-34944443	HepG2	liver:	n/a	n/a
47	CTCF	chr2:34963880-34964030	GM06990	blood:	n/a	n/a
48	CTCF	chr2:34963900-34964050	BE2_C	brain:	n/a	n/a
49	CTCF	chr2:34963880-34964030	NB4	blood:	n/a	n/a
50	CTCF	chr2:34963840-34963990	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
2	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
3	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
2	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
3	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
4	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
5	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
6	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
7	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
8	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
9	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
10	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
11	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
12	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
13	lnc-RASGRP3-4	chr2:34935518-34935580	NONHSAT070045
14	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
15	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
16	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262.4
17	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
18	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
19	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
20	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
21	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
22	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
23	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
24	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
25	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
26	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1
27	lnc-RASGRP3-4	chr2:34956433-34956605	ENSG00000228262.4
28	lnc-RASGRP3-4	chr2:34935519-34935580	ENSG00000228262.4

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000228262	chromatin interactions

Extended variants
information (count: 2478 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2478 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528789124	chr2:34917367-34917368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187398788	chr2:34917368-34917369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562012752	chr2:34917378-34917379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs192619121	chr2:34917399-34917400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550693995	chr2:34917444-34917445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs570962651	chr2:34917510-34917511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540286120	chr2:34917521-34917522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs372823206	chr2:34917524-34917525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs60646657	chr2:34917532-34917533	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369774881	chr2:34917536-34917537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370970611	chr2:34919307-34919308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs545924746	chr2:34919323-34919324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538102732	chr2:34919327-34919328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371783241	chr2:34919340-34919341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs558321155	chr2:34919346-34919347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369643087	chr2:34919348-34919349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112898133	chr2:34919363-34919364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs148434570	chr2:34919409-34919410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561877334	chr2:34919420-34919421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114160776	chr2:34919447-34919448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543004893	chr2:34919452-34919453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55895444	chr2:34919455-34919456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555245917	chr2:34919474-34919475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371467731	chr2:34919475-34919476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573783224	chr2:34919479-34919480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541675324	chr2:34919487-34919488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6738481	chr2:34919500-34919501	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12989663	chr2:34919515-34919516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs113038277	chr2:34919519-34919520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544919377	chr2:34919534-34919535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370674493	chr2:34919537-34919538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371142654	chr2:34919560-34919561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547302988	chr2:34919569-34919570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372969034	chr2:34919573-34919574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58348503	chr2:34919579-34919580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552407900	chr2:34919616-34919617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76404677	chr2:34919642-34919643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549363064	chr2:34919657-34919658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569691667	chr2:34919693-34919694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374369926	chr2:34919704-34919705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150511895	chr2:34919713-34919714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551715970	chr2:34919716-34919717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114796554	chr2:34919718-34919719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534358029	chr2:34919723-34919724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554516210	chr2:34919750-34919751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574339814	chr2:34919754-34919755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181096599	chr2:34919767-34919768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556515136	chr2:34919813-34919814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375889359	chr2:34919823-34919824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368669405	chr2:34919847-34919848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34919400-34919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:34926000-34926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:34926000-34926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:34926200-34926600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:34926400-34927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:34926600-34927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:34927800-34928200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:34927800-34928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:34927800-34928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:34927800-34928400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:34927800-34928400	Enhancers	Pancreas	Pancrea
14	chr2:34928000-34928800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:34928200-34929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34928200-34929400	Enhancers	Liver	Liver
17	chr2:34929200-34931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34929400-34930400	Weak transcription	Liver	Liver
19	chr2:34930400-34930800	Active TSS	Liver	Liver
20	chr2:34930800-34931400	Flanking Active TSS	Liver	Liver
21	chr2:34931000-34931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:34931400-34931800	Enhancers	Liver	Liver
23	chr2:34931800-34932200	Weak transcription	Liver	Liver
24	chr2:34932200-34932400	Enhancers	Liver	Liver
25	chr2:34932400-34939000	Weak transcription	Liver	Liver
26	chr2:34939000-34939800	Strong transcription	Liver	Liver
27	chr2:34939800-34952800	Weak transcription	Liver	Liver
28	chr2:34941000-34942400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:34942400-34945400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:34942600-34944400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:34942800-34943600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:34942800-34944400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:34943000-34944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:34943200-34944000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:34943800-34944200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:34944000-34944800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:34944800-34945000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr2:34945000-34946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:34945400-34949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:34946000-34946400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr2:34946400-34947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:34949800-34950400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:34951200-34951400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:34951600-34954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:34951800-34952400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:34953400-34956800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:34954200-34954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:34954200-34954400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:34954400-34955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:34954400-34956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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