Variant report

Variant	nsv1054956
Chromosome Location	chr9:140971315-141006508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140955941..140956581-chr9:140995170..140996036,2	MCF-7	breast:
2	chr9:140966280..140969244-chr9:140971233..140973098,3	K562	blood:
3	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
4	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
5	chr9:140963638..140966246-chr9:140975970..140978505,2	MCF-7	breast:
6	chr9:140969366..140972281-chr9:140974102..140976549,3	MCF-7	breast:
7	chr9:140966280..140969244-chr9:140971430..140973098,2	K562	blood:
8	chr9:140955879..140956683-chr9:140995540..140996190,2	MCF-7	breast:
9	chr9:140949053..140949565-chr9:140995304..140996092,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148408	chromatin interactions

Extended variants
information (count: 1446 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:1446 , 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	rs936249	chr9:140971315-140971316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139485881	chr9:140971365-140971366	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527972767	chr9:140971376-140971377	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181551523	chr9:140971399-140971400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376762521	chr9:140971402-140971403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145052244	chr9:140971427-140971428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539833227	chr9:140971428-140971429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185590248	chr9:140971469-140971470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570111691	chr9:140971470-140971471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80205796	chr9:140971471-140971472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554792886	chr9:140971506-140971507	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74460685	chr9:140971519-140971520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554045361	chr9:140971541-140971542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544211432	chr9:140971554-140971555	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79564115	chr9:140971599-140971600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73575854	chr9:140971601-140971602	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545806412	chr9:140971613-140971614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555914951	chr9:140971622-140971623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139995564	chr9:140971623-140971624	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370864839	chr9:140971631-140971632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375765817	chr9:140971649-140971650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561945560	chr9:140971655-140971656	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527886217	chr9:140971656-140971657	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12000000	chr9:140971658-140971659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564820517	chr9:140971664-140971665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs936250	chr9:140971676-140971677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188496159	chr9:140971677-140971678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540291428	chr9:140971706-140971707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569991331	chr9:140971738-140971739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529401685	chr9:140971739-140971740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111724978	chr9:140971761-140971762	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145838085	chr9:140971768-140971769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568220590	chr9:140971822-140971823	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533993156	chr9:140971828-140971829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140657844	chr9:140971857-140971858	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569462850	chr9:140971892-140971893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56938035	chr9:140971894-140971895	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370251470	chr9:140971912-140971913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539386643	chr9:140971917-140971918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115032005	chr9:140971922-140971923	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180938232	chr9:140971959-140971960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144328961	chr9:140971966-140971967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185961451	chr9:140971967-140971968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57378360	chr9:140971991-140971992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541589115	chr9:140972029-140972030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375330614	chr9:140972036-140972037	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564556845	chr9:140972061-140972062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80145745	chr9:140972078-140972079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55707888	chr9:140972089-140972090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141282174	chr9:140972128-140972129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140933000-140976400	Weak transcription	Right Atrium	heart
2	chr9:140954200-140979000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:140956800-140975200	Weak transcription	Brain Angular Gyrus	brain
4	chr9:140963600-140978600	Weak transcription	Fetal Brain Male	brain
5	chr9:140968000-140972600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:140968000-140977200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:140968200-140977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:140968600-140972600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:140968600-140973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:140968600-140975600	Weak transcription	Brain Anterior Caudate	brain
11	chr9:140968600-140980600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:140969200-140972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:140969200-140980000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:140970000-140975800	Strong transcription	Brain Germinal Matrix	brain
15	chr9:140970200-140972800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:140970400-140973200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:140970600-140977400	Strong transcription	Fetal Brain Female	brain
18	chr9:140971400-140972600	Weak transcription	Gastric	stomach
19	chr9:140972200-140975600	Weak transcription	Pancreas	Pancrea
20	chr9:140972600-140972800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr9:140972600-140972800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr9:140972600-140972800	Enhancers	Spleen	Spleen
23	chr9:140972600-140973200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:140972600-140973200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr9:140972800-140973800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr9:140973000-140974600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:140973000-140977400	Weak transcription	Spleen	Spleen
28	chr9:140973200-140977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:140973200-140977400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:140973400-140973800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr9:140973800-140977600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:140973800-140980000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:140974600-140977200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:140975200-140976000	Strong transcription	Brain Angular Gyrus	brain
35	chr9:140975600-140977800	Strong transcription	Brain Anterior Caudate	brain
36	chr9:140975800-140977400	Weak transcription	Brain Germinal Matrix	brain
37	chr9:140976000-141000000	Weak transcription	Brain Angular Gyrus	brain
38	chr9:140977200-140977400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr9:140977200-140978000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:140977200-140978200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr9:140977400-140977800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr9:140977400-140977800	Strong transcription	Brain Germinal Matrix	brain
43	chr9:140977400-140978200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr9:140977400-140978400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:140977400-140978800	Strong transcription	Brain Cingulate Gyrus	brain
46	chr9:140977400-140979000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:140977400-140979000	ZNF genes & repeats	Spleen	Spleen
48	chr9:140977400-140979400	ZNF genes & repeats	Fetal Brain Female	brain
49	chr9:140977600-140978000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr9:140977800-140978400	ZNF genes & repeats	Brain Germinal Matrix	brain

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