Variant report

Variant	nsv520371
Chromosome Location	chr3:134344694-134351724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:134346613-134347138	HCT-116	colon:	n/a	n/a
2	CTCF	chr3:134349380-134349530	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr3:134349377-134349650	HepG2	liver:	n/a	n/a
4	CTCF	chr3:134349431-134349625	GM19240	blood:	n/a	n/a
5	CTCF	chr3:134349420-134349570	NB4	blood:	n/a	n/a
6	CTCF	chr3:134349400-134349550	GM12872	blood:	n/a	n/a
7	CTCF	chr3:134349520-134349670	HFF	foreskin:	n/a	n/a
8	CTCF	chr3:134349460-134349610	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr3:134349379-134349652	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:134349321-134349820	HCT-116	colon:	n/a	n/a
11	CTCF	chr3:134349440-134349590	GM12874	blood:	n/a	n/a
12	CTCF	chr3:134349449-134349589	GM19238	blood:	n/a	n/a
13	CTCF	chr3:134349500-134349650	HMEC	breast:	n/a	n/a
14	CTCF	chr3:134349480-134349630	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr3:134349420-134349570	SAEC	small airway:	n/a	n/a
16	CTCF	chr3:134349460-134349610	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:134349441-134349705	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr3:134349420-134349570	HPF	lung:	n/a	n/a
19	CTCF	chr3:134349420-134349570	GM12868	blood:	n/a	n/a
20	CTCF	chr3:134349440-134349590	HRE	kidney:	n/a	n/a
21	CTCF	chr3:134349440-134349590	HAc	cerebellar:	n/a	n/a
22	CTCF	chr3:134349383-134349639	ProgFib	skin:	n/a	n/a
23	CTCF	chr3:134349440-134349590	HCM	heart:	n/a	n/a
24	CTCF	chr3:134349423-134349636	LNCaP	prostate:	n/a	n/a
25	CTCF	chr3:134349460-134349610	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr3:134349419-134349711	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr3:134349380-134349530	GM12864	blood:	n/a	n/a
28	CTCF	chr3:134349460-134349610	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr3:134349420-134349570	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr3:134349380-134349530	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr3:134349440-134349590	HL-60	blood:	n/a	n/a
32	CTCF	chr3:134349480-134349630	GM12878	blood:	n/a	n/a
33	CTCF	chr3:134349420-134349570	GM12866	blood:	n/a	n/a
34	CTCF	chr3:134349440-134349590	GM12872	blood:	n/a	n/a
35	CTCF	chr3:134349425-134349620	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:134349480-134349630	GM06990	blood:	n/a	n/a
37	CTCF	chr3:134349292-134349770	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:134349460-134349610	RPTEC	kidney:	n/a	n/a
39	CTCF	chr3:134349503-134349591	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr3:134349421-134349583	GM20000	blood:	n/a	n/a
41	CTCF	chr3:134349480-134349630	HCT-116	colon:	n/a	n/a
42	CTCF	chr3:134349460-134349610	GM12865	blood:	n/a	n/a
43	CTCF	chr3:134349440-134349590	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:134349400-134349550	GM12873	blood:	n/a	n/a
45	CTCF	chr3:134349420-134349570	GM12871	blood:	n/a	n/a
46	CTCF	chr3:134349440-134349590	HPF	lung:	n/a	n/a
47	CTCF	chr3:134349480-134349630	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr3:134349434-134349612	GM12892	blood:	n/a	n/a
49	CTCF	chr3:134349500-134349650	BE2_C	brain:	n/a	n/a
50	CTCF	chr3:134349440-134349590	GM12869	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134349096..134349842-chr3:134472731..134473497,2	MCF-7	breast:
2	chr3:134349069..134350003-chr3:134473721..134474764,6	MCF-7	breast:
3	chr3:134349040..134350145-chr3:134359403..134360432,7	MCF-7	breast:
4	chr3:134349144..134349861-chr3:134395786..134396363,2	MCF-7	breast:
5	chr3:134349175..134349761-chr3:134396148..134396764,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHB1-1	chr3:134346782-134346946	NONHSAT092250

No data

Variant related genes	Relation type
KY	TF binding region

Extended variants
information (count: 231 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4955469	chr3:134344694-134344695	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528106343	chr3:134344718-134344719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182030254	chr3:134344724-134344725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187667433	chr3:134344780-134344781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573942664	chr3:134344794-134344795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4572810	chr3:134344799-134344800	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570673644	chr3:134344808-134344809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539622602	chr3:134344823-134344824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190600479	chr3:134344839-134344840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182890295	chr3:134344880-134344881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187527144	chr3:134344895-134344896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1357764	chr3:134344928-134344929	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs55992836	chr3:134344932-134344933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1357763	chr3:134344956-134344957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558163052	chr3:134345038-134345039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56007398	chr3:134345057-134345058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577842361	chr3:134345067-134345068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540409095	chr3:134345116-134345117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4566582	chr3:134345148-134345149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556391519	chr3:134345298-134345299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532778614	chr3:134345310-134345311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528193822	chr3:134345314-134345315	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10935123	chr3:134345327-134345328	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190141332	chr3:134345374-134345375	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369309013	chr3:134345397-134345398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530414247	chr3:134345413-134345414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142558296	chr3:134345461-134345462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564535884	chr3:134345573-134345574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77032079	chr3:134345588-134345589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546838148	chr3:134345648-134345649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566626828	chr3:134345684-134345685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535966166	chr3:134345713-134345714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7641798	chr3:134345719-134345720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs7653807	chr3:134345724-134345725	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs182735778	chr3:134345742-134345743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558460757	chr3:134345766-134345767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77216791	chr3:134345781-134345782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35737658	chr3:134345784-134345785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7653880	chr3:134345788-134345789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs553947580	chr3:134345860-134345861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573854871	chr3:134345871-134345872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146857995	chr3:134345910-134345911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561608173	chr3:134345933-134345934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139670598	chr3:134345969-134345970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543880743	chr3:134345986-134345987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7642266	chr3:134346025-134346026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs373566413	chr3:134346060-134346061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533270987	chr3:134346107-134346108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144371039	chr3:134346112-134346113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35097552	chr3:134346126-134346127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134319800-134353800	Weak transcription	Left Ventricle	heart
2	chr3:134321600-134349200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:134326000-134364800	Weak transcription	Osteobl	bone
4	chr3:134328200-134368200	Weak transcription	Brain Angular Gyrus	brain
5	chr3:134329400-134349000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:134330200-134356800	Weak transcription	Fetal Heart	heart
7	chr3:134330600-134360800	Weak transcription	Right Ventricle	heart
8	chr3:134331400-134349000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:134332400-134347800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:134335000-134358800	Weak transcription	Aorta	Aorta
11	chr3:134337400-134356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:134338400-134347000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:134338800-134346400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:134339000-134358000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:134339200-134349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:134339600-134348200	Weak transcription	Brain Anterior Caudate	brain
17	chr3:134340000-134345000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:134341600-134349000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:134341600-134349400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr3:134341800-134346800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:134342400-134346400	Weak transcription	Fetal Intestine Large	intestine
22	chr3:134342400-134348000	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:134342400-134348400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr3:134342400-134349000	Weak transcription	Fetal Intestine Small	intestine
25	chr3:134343000-134349400	Strong transcription	Fetal Muscle Leg	muscle
26	chr3:134344000-134349600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:134344600-134345200	Weak transcription	Gastric	stomach
28	chr3:134345000-134348200	Strong transcription	Brain Cingulate Gyrus	brain
29	chr3:134345200-134345400	ZNF genes & repeats	Gastric	stomach
30	chr3:134345400-134346600	Weak transcription	Gastric	stomach
31	chr3:134346400-134347000	Enhancers	Fetal Intestine Large	intestine
32	chr3:134346400-134347200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr3:134346400-134347200	Enhancers	Stomach Mucosa	stomach
34	chr3:134346400-134347400	Enhancers	Small Intestine	intestine
35	chr3:134346600-134346800	Enhancers	Gastric	stomach
36	chr3:134346600-134348000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:134346800-134347200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:134347800-134348000	Strong transcription	Colon Smooth Muscle	Colon
39	chr3:134348000-134349200	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:134348000-134359800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:134348200-134348600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr3:134348200-134363800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:134348400-134360800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:134349000-134349200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr3:134349000-134349400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr3:134349200-134349400	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr3:134349200-134350000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr3:134349400-134349600	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr3:134349400-134349800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr3:134349600-134357400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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