Variant report

Variant	nsv877370
Chromosome Location	chr3:118711777-118799682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:481)
CpG islands
(count:917)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:118753735-118753935	K562	blood:	n/a	n/a
2	ARID3A	chr3:118734227-118734231	HepG2	liver:	n/a	n/a
3	ATF1	chr3:118739149-118739350	K562	blood:	n/a	n/a
4	BACH1	chr3:118753370-118754199	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr3:118753664-118753967	GM12878	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
6	BHLHE40	chr3:118753613-118754025	K562	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
7	CCNT2	chr3:118753087-118754043	K562	blood:	n/a	n/a
8	CEBPB	chr3:118741064-118741238	H1-hESC	embryonic stem cell:	n/a	chr3:118741136-118741147
9	CEBPB	chr3:118745368-118745633	HepG2	liver:	n/a	chr3:118745489-118745500
10	CEBPB	chr3:118741075-118741275	A549	lung:	n/a	chr3:118741136-118741147
11	CEBPB	chr3:118737472-118737647	A549	lung:	n/a	n/a
12	CEBPB	chr3:118740984-118741309	IMR90	lung:	n/a	chr3:118741136-118741147
13	CEBPB	chr3:118778947-118779140	HepG2	liver:	n/a	chr3:118779069-118779080
14	CEBPB	chr3:118741045-118741288	HepG2	liver:	n/a	chr3:118741136-118741147
15	CEBPB	chr3:118741024-118741203	K562	blood:	n/a	chr3:118741136-118741147
16	CHD1	chr3:118753827-118753996	GM12878	blood:	n/a	n/a
17	CHD1	chr3:118752910-118753656	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr3:118753548-118753681	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr3:118753658-118753827	HepG2	liver:	n/a	chr3:118753765-118753775
20	CHD2	chr3:118753607-118753878	GM12878	blood:	n/a	chr3:118753765-118753775
21	CREB1	chr3:118753090-118753994	A549	lung:	n/a	n/a
22	CTBP2	chr3:118753482-118754214	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:118753520-118753670	A549	lung:	n/a	n/a
24	CTCF	chr3:118753724-118753895	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr3:118753491-118754018	K562	blood:	n/a	n/a
26	CTCF	chr3:118753720-118753870	GM12873	blood:	n/a	n/a
27	CTCF	chr3:118753780-118753930	GM12866	blood:	n/a	n/a
28	CTCF	chr3:118752952-118754403	A549	lung:	n/a	n/a
29	CTCF	chr3:118753393-118754053	K562	blood:	n/a	n/a
30	CTCF	chr3:118753522-118754002	GM19240	blood:	n/a	n/a
31	CTCF	chr3:118754000-118754001	GM13977	blood:	n/a	n/a
32	CTCF	chr3:118753556-118753972	NHEK	skin:	n/a	n/a
33	CTCF	chr3:118753760-118753910	HEK293	kidney:	n/a	n/a
34	CTCF	chr3:118753440-118753590	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr3:118753740-118753890	SAEC	small airway:	n/a	n/a
36	CTCF	chr3:118753740-118753890	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr3:118753460-118753610	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr3:118753700-118753850	AG09319	gingival:	n/a	n/a
39	CTCF	chr3:118753760-118753910	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr3:118753740-118753890	GM06990	blood:	n/a	n/a
41	CTCF	chr3:118795861-118795898	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr3:118753760-118753910	NB4	blood:	n/a	n/a
43	CTCF	chr3:118753760-118753910	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:118753380-118753530	GM12864	blood:	n/a	n/a
45	CTCF	chr3:118753520-118753670	HCM	heart:	n/a	n/a
46	CTCF	chr3:118753700-118753850	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr3:118753740-118753890	HepG2	liver:	n/a	n/a
48	CTCF	chr3:118753760-118753910	GM12869	blood:	n/a	n/a
49	CTCF	chr3:118753691-118753995	GM13977	blood:	n/a	n/a
50	CTCF	chr3:118753740-118753890	HPF	lung:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118753005-118753055	AG04449	skin:	fetal
2	chr3:118753660-118753710	PFSK-1	brain:	n/a
3	chr3:118753005-118753055	AG04449	skin:	fetal
4	chr3:118753660-118753710	PFSK-1	brain:	n/a
5	chr3:118734756-118734806	GM06990	blood:	n/a
6	chr3:118753005-118753055	NT2-D1	testis:	n/a
7	chr3:118757898-118757948	SKMC	muscle:	n/a
8	chr3:118753093-118753143	Caco-2	colon:	n/a
9	chr3:118753093-118753143	HepG2	liver:	n/a
10	chr3:118753093-118753143	RPTEC	kidney:	n/a
11	chr3:118753871-118753921	AG09309	skin:	n/a
12	chr3:118753005-118753055	HRPEpiC	eye:	n/a
13	chr3:118753871-118753921	Jurkat	blood:	n/a
14	chr3:118753714-118753764	HCM	heart:	n/a
15	chr3:118754097-118754147	ProgFib	skin:	n/a
16	chr3:118750463-118750513	HIPEpiC	eye:	n/a
17	chr3:118753738-118753788	AG10803	skin:	n/a
18	chr3:118753738-118753788	HEK293	kidney:	embryo
19	chr3:118753660-118753710	HepG2	liver:	n/a
20	chr3:118750463-118750513	AG04450	lung:	fetal
21	chr3:118792317-118792367	ProgFib	skin:	n/a
22	chr3:118734756-118734806	Caco-2	colon:	n/a
23	chr3:118754376-118754426	AG10803	skin:	n/a
24	chr3:118753707-118753757	SK-N-MC	brain:	n/a
25	chr3:118753610-118753660	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:118753871-118753921	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:118753660-118753710	SKMC	muscle:	n/a
28	chr3:118753871-118753921	AoSMC	blood vessel:	n/a
29	chr3:118753738-118753788	HCPEpiC	choroid plexus:	n/a
30	chr3:118753705-118753755	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:118753005-118753055	NHBE	bronchial:	n/a
32	chr3:118753093-118753143	GM19239	blood:	n/a
33	chr3:118753707-118753757	GM12878	blood:	n/a
34	chr3:118792317-118792367	H1-hESC	embryonic stem cell:	embryo
35	chr3:118792317-118792367	HNPCEpiC	eye:	n/a
36	chr3:118753093-118753143	AG09319	gingival:	n/a
37	chr3:118753005-118753055	GM12891	blood:	n/a
38	chr3:118792317-118792367	HUVEC	blood vessel:	n/a
39	chr3:118753005-118753055	HCF	heart:	n/a
40	chr3:118754376-118754426	AG09309	skin:	n/a
41	chr3:118753610-118753660	GM19239	blood:	n/a
42	chr3:118753705-118753755	HNPCEpiC	eye:	n/a
43	chr3:118757898-118757948	NH-A	brain:	n/a
44	chr3:118754376-118754426	Hepatocyte	liver:	n/a
45	chr3:118753660-118753710	BJ	skin:	n/a
46	chr3:118750463-118750513	SKMC	muscle:	n/a
47	chr3:118753005-118753055	GM06990	blood:	n/a
48	chr3:118757898-118757948	RPTEC	kidney:	n/a
49	chr3:118753714-118753764	NT2-D1	testis:	n/a
50	chr3:118753093-118753143	IMR90	lung:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
2	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:
3	chr3:118603583..118604395-chr3:118755020..118755749,3	MCF-7	breast:
4	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
5	chr19:34079834..34082285-chr3:118740671..118743263,2	MCF-7	breast:
6	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:

No data

Variant related genes	Relation type
IGSF11	TF binding region
IGSF11	CpG island
ENSG00000232429	chromatin interactions

Extended variants
information (count: 2035 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2035 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9817851	chr3:118711777-118711778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537214473	chr3:118711810-118711811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528622549	chr3:118711819-118711820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546909194	chr3:118711825-118711826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565203230	chr3:118711831-118711832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145531909	chr3:118711836-118711837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148822611	chr3:118711873-118711874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185455561	chr3:118711875-118711876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1435654	chr3:118711880-118711881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191982209	chr3:118711957-118711958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548621251	chr3:118712001-118712002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183351203	chr3:118712059-118712060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533948916	chr3:118712078-118712079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559864968	chr3:118712092-118712093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551060434	chr3:118712101-118712102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558910114	chr3:118712180-118712181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189110475	chr3:118712213-118712214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143419632	chr3:118712296-118712297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75795749	chr3:118712300-118712301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574516421	chr3:118712316-118712317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150933049	chr3:118712324-118712325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559786659	chr3:118712343-118712344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573115232	chr3:118712346-118712347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540411052	chr3:118712351-118712352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539887368	chr3:118712365-118712366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368518374	chr3:118712383-118712384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539798737	chr3:118712469-118712470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565264310	chr3:118712474-118712475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77737023	chr3:118712482-118712483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532660400	chr3:118712490-118712491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191859946	chr3:118712507-118712508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372821284	chr3:118712547-118712548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376999095	chr3:118712706-118712707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74725440	chr3:118712764-118712765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116125115	chr3:118712786-118712787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11921371	chr3:118712788-118712789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548416959	chr3:118712831-118712832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573232510	chr3:118712832-118712833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566939896	chr3:118712845-118712846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142600479	chr3:118712875-118712876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114763817	chr3:118712885-118712886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541958741	chr3:118712890-118712891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552382573	chr3:118712891-118712892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570806553	chr3:118712920-118712921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76238376	chr3:118712980-118712981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556384311	chr3:118712984-118712985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567967892	chr3:118713043-118713044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374225330	chr3:118713068-118713069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182316428	chr3:118713105-118713106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553484867	chr3:118713146-118713147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118707600-118714800	Weak transcription	Pancreas	Pancrea
2	chr3:118709600-118712000	Enhancers	Brain Germinal Matrix	brain
3	chr3:118710600-118713000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:118711000-118713600	Enhancers	Brain Hippocampus Middle	brain
5	chr3:118711200-118712000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:118711200-118713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:118711200-118714400	Enhancers	Brain Angular Gyrus	brain
8	chr3:118711200-118714400	Enhancers	Brain Anterior Caudate	brain
9	chr3:118711200-118715400	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:118711400-118711800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:118711400-118711800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:118711400-118712000	Enhancers	Ovary	ovary
13	chr3:118711400-118712600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:118711400-118714200	Enhancers	Brain Substantia Nigra	brain
15	chr3:118711600-118716000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:118711800-118712000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:118711800-118715000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:118712000-118715200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:118712600-118712800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:118713000-118727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:118713600-118715800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:118713800-118719800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:118714200-118715800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:118714400-118714800	Weak transcription	Brain Anterior Caudate	brain
25	chr3:118714400-118715800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:118714800-118715000	Enhancers	Pancreas	Pancrea
27	chr3:118714800-118716600	Enhancers	Brain Anterior Caudate	brain
28	chr3:118715000-118715200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:118715200-118716000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:118715400-118731800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:118715600-118716800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:118715800-118716200	Enhancers	Brain Angular Gyrus	brain
33	chr3:118715800-118716200	Enhancers	Brain Hippocampus Middle	brain
34	chr3:118715800-118717200	Enhancers	Brain Substantia Nigra	brain
35	chr3:118716000-118716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:118716000-118716600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:118716000-118716800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:118716600-118720000	Weak transcription	Brain Anterior Caudate	brain
39	chr3:118716800-118729000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:118717200-118719800	Weak transcription	Brain Substantia Nigra	brain
41	chr3:118719800-118720200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:118719800-118720200	Enhancers	Brain Substantia Nigra	brain
43	chr3:118720000-118720200	Enhancers	Brain Anterior Caudate	brain
44	chr3:118720200-118726600	Weak transcription	Brain Substantia Nigra	brain
45	chr3:118720200-118727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:118725000-118727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:118725200-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:118726200-118727800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr3:118726400-118726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:118726400-118726800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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