Variant report

Variant	nsv877174
Chromosome Location	chr3:94867122-94983900
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	BATF	chr3:94867079-94867278	GM12878	blood:	n/a	chr3:94867158-94867169
2	BRCA1	chr3:94916763-94916781	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:94880997-94881305	HepG2	liver:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
4	CEBPB	chr3:94908207-94908561	HepG2	liver:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
5	CEBPB	chr3:94908204-94908562	IMR90	lung:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
6	CEBPB	chr3:94908217-94908539	A549	lung:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
7	CEBPB	chr3:94873551-94874188	MCF-7	breast:	n/a	n/a
8	CEBPB	chr3:94880952-94881302	A549	lung:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
9	CEBPB	chr3:94908276-94908544	K562	blood:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
10	CEBPB	chr3:94873659-94874133	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:94873555-94874070	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:94891000-94891150	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:94891140-94891290	RPTEC	kidney:	n/a	n/a
14	CTCF	chr3:94902900-94903050	GM12872	blood:	n/a	n/a
15	CTCF	chr3:94870776-94870809	GM13976	blood:	n/a	n/a
16	CTCF	chr3:94902920-94903070	GM12872	blood:	n/a	n/a
17	CTCF	chr3:94944143-94944233	GM13977	blood:	n/a	n/a
18	CTCF	chr3:94891040-94891190	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr3:94959680-94959830	GM12869	blood:	n/a	n/a
20	CTCF	chr3:94891048-94891194	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:94891000-94891150	HRE	kidney:	n/a	n/a
22	CTCF	chr3:94902980-94903130	HEK293	kidney:	n/a	n/a
23	CTCF	chr3:94900820-94900858	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr3:94902957-94903127	K562	blood:	n/a	n/a
25	CTCF	chr3:94891065-94891193	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:94902945-94903131	HepG2	liver:	n/a	n/a
27	CTCF	chr3:94891040-94891190	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr3:94959740-94959890	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:94891020-94891170	HRE	kidney:	n/a	n/a
30	CTCF	chr3:94901413-94901515	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr3:94902994-94903102	GM12892	blood:	n/a	n/a
32	CTCF	chr3:94902937-94903191	GM12878	blood:	n/a	n/a
33	CTCF	chr3:94902920-94903070	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr3:94902969-94903136	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:94902900-94903050	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:94902940-94903090	Caco-2	colon:	n/a	n/a
37	CTCF	chr3:94902959-94903153	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:94959824-94959858	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr3:94902980-94903130	HepG2	liver:	n/a	n/a
40	CTCF	chr3:94902939-94903113	HepG2	liver:	n/a	n/a
41	CTCF	chr3:94902980-94903130	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr3:94902900-94903050	A549	lung:	n/a	n/a
43	CTCF	chr3:94902919-94903180	K562	blood:	n/a	n/a
44	CTCF	chr3:94902960-94903110	HepG2	liver:	n/a	n/a
45	CTCF	chr3:94959816-94959863	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:94903002-94903066	A549	lung:	n/a	n/a
47	CTCF	chr3:94901753-94901799	GM20000	blood:	n/a	n/a
48	CTCF	chr3:94902980-94903130	K562	blood:	n/a	n/a
49	CTCF	chr3:94959660-94959810	HepG2	liver:	n/a	n/a
50	CTCF	chr3:94902951-94903127	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
2	chr3:94979836..94981879-chr3:94985858..94987938,2	MCF-7	breast:
3	chr3:94934431..94935951-chr3:94936179..94938719,2	K562	blood:
4	chr3:94912857..94914770-chr3:94921596..94924370,2	MCF-7	breast:
5	chr3:94912857..94914770-chr3:94921596..94924370,2	MCF-7	breast:
6	chr11:62608866..62609588-chr3:94930688..94931197,2	Hela-S3	cervix:
7	chr3:94969252..94971265-chr3:94976399..94979300,2	MCF-7	breast:
8	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:
9	chr21:43976463..43979311-chr3:94964978..94967829,2	MCF-7	breast:
10	chr3:94969252..94971265-chr3:94976399..94979300,2	MCF-7	breast:
11	chr3:94934431..94935951-chr3:94936179..94938719,2	K562	blood:
12	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
13	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN3-1	chr3:94890764-94891221	NONHSAT090744
2	lnc-NSUN3-1	chr3:94870874-94871353	ENSG00000239589

Variant related genes	Relation type
RPS18P6	TF binding region
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1420 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13080340	chr3:94867122-94867123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552208538	chr3:94867124-94867125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569023116	chr3:94867129-94867130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148297654	chr3:94867145-94867146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114343337	chr3:94867165-94867166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78664921	chr3:94867169-94867170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536588435	chr3:94867174-94867175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141482740	chr3:94867221-94867222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572749904	chr3:94867233-94867234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150846693	chr3:94867251-94867252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181349072	chr3:94867278-94867279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570384157	chr3:94867279-94867280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185778313	chr3:94867302-94867303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190122891	chr3:94867339-94867340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369571423	chr3:94867349-94867350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561515716	chr3:94867385-94867386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530321078	chr3:94867391-94867392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563526751	chr3:94867399-94867400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530894501	chr3:94867415-94867416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9815317	chr3:94867416-94867417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182238947	chr3:94867557-94867558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3913802	chr3:94867592-94867593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528503514	chr3:94867595-94867596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60250258	chr3:94867610-94867611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568985999	chr3:94867626-94867627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12485743	chr3:94867633-94867634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550350254	chr3:94867644-94867645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60130192	chr3:94867695-94867696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9867698	chr3:94867735-94867736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553204337	chr3:94867760-94867761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569471848	chr3:94867768-94867769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374565077	chr3:94867826-94867827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13317670	chr3:94867835-94867836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538622723	chr3:94867855-94867856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138189464	chr3:94867876-94867877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370223990	chr3:94867885-94867886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544365259	chr3:94867899-94867900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554379549	chr3:94867900-94867901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143651169	chr3:94867929-94867930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187295142	chr3:94867938-94867939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560820579	chr3:94867953-94867954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536742150	chr3:94867968-94867969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80210670	chr3:94867975-94867976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147180305	chr3:94868032-94868033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558620999	chr3:94868068-94868069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570075684	chr3:94868077-94868078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531605837	chr3:94868086-94868087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374704148	chr3:94868090-94868091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534334950	chr3:94868147-94868148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562063936	chr3:94868171-94868172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94865200-94870400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:94865200-94870400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:94865200-94870400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:94865400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:94870200-94870600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:94870200-94871000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:94870400-94870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:94870400-94870800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:94870400-94870800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:94870400-94870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:94870400-94870800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:94870400-94871000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:94870400-94871000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:94870800-94873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:94873200-94874400	Enhancers	Hela-S3	cervix
16	chr3:94873400-94874400	Enhancers	NH-A	brain
17	chr3:94873600-94873800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:94873600-94873800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:94891000-94892000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:94891200-94891800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:94891400-94891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:94891400-94891800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:94891400-94891800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:94891400-94891800	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:94891600-94891800	Enhancers	Liver	Liver
26	chr3:94902800-94903800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:94919000-94919400	Enhancers	Liver	Liver
28	chr3:94923600-94924000	ZNF genes & repeats	Pancreas	Pancrea
29	chr3:94931000-94932200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:94931200-94932000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:94931600-94931800	Enhancers	Liver	Liver
32	chr3:94931800-94932200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:94931800-94932600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:94931800-94932600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:94931800-94936200	Weak transcription	Liver	Liver
36	chr3:94934400-94934600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:94934600-94935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:94936200-94936400	Enhancers	Liver	Liver
39	chr3:94936400-94936800	Weak transcription	Liver	Liver
40	chr3:94936400-94937000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:94936600-94937200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr3:94936800-94937600	Enhancers	Liver	Liver
43	chr3:94937400-94937800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr3:94945600-94946600	Enhancers	Liver	Liver
45	chr3:94961200-94970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:94970400-94970600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:94970600-94971200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:94973600-94973800	ZNF genes & repeats	Esophagus	oesophagus
49	chr3:94978000-94978600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr3:94980000-94980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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