Variant report

Variant	nsv518269
Chromosome Location	chr5:93943818-93949670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:93949321-93949680	K562	blood:	n/a	chr5:93949610-93949626 chr5:93949598-93949614 chr5:93949599-93949615
2	ARID3A	chr5:93949347-93949535	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:93946028-93946097	K562	blood:	n/a	n/a
4	CEBPB	chr5:93946015-93946111	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr5:93949265-93949643	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:93949440-93949590	NHEK	skin:	n/a	n/a
7	CTCF	chr5:93949360-93949510	AG10803	skin:	n/a	n/a
8	CTCF	chr5:93949360-93949510	BE2_C	brain:	n/a	n/a
9	CTCF	chr5:93949420-93949570	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr5:93949400-93949550	GM12868	blood:	n/a	n/a
11	CTCF	chr5:93949340-93949490	WI-38	lung:	n/a	n/a
12	CTCF	chr5:93949440-93949590	RPTEC	kidney:	n/a	n/a
13	CTCF	chr5:93949391-93949557	GM13976	blood:	n/a	n/a
14	CTCF	chr5:93949400-93949550	GM12871	blood:	n/a	n/a
15	CTCF	chr5:93949180-93949330	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr5:93949297-93949645	GM12878	blood:	n/a	n/a
17	CTCF	chr5:93949340-93949490	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr5:93949373-93949547	HepG2	liver:	n/a	n/a
19	CTCF	chr5:93949283-93949596	K562	blood:	n/a	n/a
20	CTCF	chr5:93949460-93949610	GM12878	blood:	n/a	n/a
21	CTCF	chr5:93949420-93949570	GM12868	blood:	n/a	n/a
22	CTCF	chr5:93949460-93949610	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr5:93949336-93949631	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:93949300-93949450	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr5:93949412-93949528	GM10248	blood:	n/a	n/a
26	CTCF	chr5:93949380-93949530	GM12872	blood:	n/a	n/a
27	CTCF	chr5:93949414-93949525	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr5:93949372-93949570	GM19238	blood:	n/a	n/a
29	CTCF	chr5:93949420-93949570	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr5:93949386-93949560	A549	lung:	n/a	n/a
31	CTCF	chr5:93949340-93949490	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr5:93949431-93949568	GM19239	blood:	n/a	n/a
33	CTCF	chr5:93949400-93949550	NHEK	skin:	n/a	n/a
34	CTCF	chr5:93949300-93949450	HFF	foreskin:	n/a	n/a
35	CTCF	chr5:93949479-93949487	GM10266	blood:	n/a	n/a
36	CTCF	chr5:93949420-93949570	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr5:93949460-93949610	GM12873	blood:	n/a	n/a
38	CTCF	chr5:93949380-93949530	AG09319	gingival:	n/a	n/a
39	CTCF	chr5:93949380-93949530	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr5:93949400-93949550	HEK293	kidney:	n/a	n/a
41	CTCF	chr5:93949380-93949530	GM06990	blood:	n/a	n/a
42	CTCF	chr5:93949380-93949530	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr5:93949420-93949570	GM12875	blood:	n/a	n/a
44	CTCF	chr5:93949400-93949550	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:93949365-93949606	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr5:93949340-93949490	GM12873	blood:	n/a	n/a
47	CTCF	chr5:93949357-93949572	GM12878	blood:	n/a	n/a
48	CTCF	chr5:93949380-93949530	GM12867	blood:	n/a	n/a
49	CTCF	chr5:93949360-93949510	GM06990	blood:	n/a	n/a
50	CTCF	chr5:93949400-93949550	HAc	cerebellar:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93947075..93949528-chr5:93950936..93953053,2	K562	blood:
2	chr5:93948705..93949988-chr5:94028528..94029361,5	MCF-7	breast:
3	chr5:93947090..93949494-chr5:93952460..93954440,2	MCF-7	breast:
4	chr5:93949296..93950069-chr5:94073313..94073848,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCTP1-1	chr5:93947611-93947642	ENSG00000270133.1

No data

Variant related genes	Relation type
ANKRD32	TF binding region
ENSG00000185261	chromatin interactions
ENSG00000270133	chromatin interactions
ENSG00000133302	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs10043779	chr5:93943818-93943819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183858467	chr5:93943821-93943822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10041843	chr5:93943859-93943860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs533482371	chr5:93943863-93943864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72773510	chr5:93943872-93943873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10041262	chr5:93943877-93943878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs572234796	chr5:93943955-93943956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111474358	chr5:93943963-93943964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181999951	chr5:93944070-93944071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187166989	chr5:93944142-93944143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190790028	chr5:93944146-93944147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370864464	chr5:93944147-93944148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10044375	chr5:93944156-93944157	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs374876360	chr5:93944157-93944158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367732018	chr5:93944162-93944163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371521069	chr5:93944164-93944165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374066049	chr5:93944166-93944167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368306994	chr5:93944168-93944169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28752181	chr5:93944170-93944171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28797279	chr5:93944171-93944172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372102168	chr5:93944173-93944174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376705583	chr5:93944175-93944176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373689841	chr5:93944177-93944178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367561525	chr5:93944179-93944180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28886578	chr5:93944180-93944181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28867815	chr5:93944181-93944182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201522109	chr5:93944182-93944183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371403486	chr5:93944186-93944187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60186849	chr5:93944196-93944197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377191653	chr5:93944198-93944199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372331036	chr5:93944204-93944205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377125226	chr5:93944213-93944214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10214168	chr5:93944214-93944215	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs58637237	chr5:93944221-93944222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569178194	chr5:93944259-93944260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537398702	chr5:93944302-93944303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557745964	chr5:93944305-93944306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147766982	chr5:93944362-93944363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549711847	chr5:93944437-93944438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77297352	chr5:93944489-93944490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77545957	chr5:93944504-93944505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542059807	chr5:93944563-93944564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555735590	chr5:93944582-93944583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181744132	chr5:93944585-93944586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575902200	chr5:93944657-93944658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186776155	chr5:93944700-93944701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148413088	chr5:93944784-93944785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202037476	chr5:93944848-93944849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543356095	chr5:93944865-93944866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114772000	chr5:93944893-93944894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93934600-93951200	Weak transcription	Brain Anterior Caudate	brain
2	chr5:93936800-93950000	Weak transcription	Hela-S3	cervix
3	chr5:93937800-93944400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:93937800-93950800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:93938400-93951200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:93938600-93952400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:93939800-93952400	Weak transcription	Fetal Kidney	kidney
8	chr5:93942800-93950000	Weak transcription	Liver	Liver
9	chr5:93942800-93952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:93942800-93953200	Weak transcription	Aorta	Aorta
11	chr5:93942800-93953200	Weak transcription	Fetal Stomach	stomach
12	chr5:93942800-93953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:93943000-93951200	Weak transcription	Fetal Lung	lung
14	chr5:93944600-93946600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:93946600-93946800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:93946600-93947000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:93946600-93947000	Enhancers	K562	blood
18	chr5:93946600-93947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:93946600-93947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:93946600-93947400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:93946800-93947400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:93947000-93947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:93947000-93948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:93947200-93952000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:93947400-93947800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:93947400-93951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:93947400-93952200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:93947400-93953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:93947600-93948600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:93947800-93948000	Enhancers	Fetal Intestine Large	intestine
31	chr5:93948400-93951200	Weak transcription	Fetal Intestine Large	intestine
32	chr5:93948600-93948800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:93948600-93952200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:93948800-93953000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:93949200-93949400	Enhancers	Esophagus	oesophagus
36	chr5:93949200-93951200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:93949200-93953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:93949400-93951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:93949600-93950200	Weak transcription	Esophagus	oesophagus
40	chr5:93949600-93953000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:93949600-93953200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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