Variant report

Variant	nsv877580
Chromosome Location	chr3:144815506-144979382
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
2	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
3	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
4	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
5	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
6	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
7	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
8	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
9	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
10	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
11	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:

No data

Extended variants
information (count: 2480 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2480 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573763327	chr3:144825800-144825801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149216609	chr3:144825827-144825828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190290357	chr3:144825867-144825868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73008140	chr3:144825868-144825869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544913524	chr3:144825876-144825877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182110287	chr3:144825882-144825883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146940814	chr3:144825887-144825888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548968039	chr3:144825931-144825932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74520619	chr3:144825963-144825964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374629578	chr3:144826060-144826061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528131124	chr3:144826064-144826065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546684218	chr3:144826083-144826084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs137885895	chr3:144826150-144826151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74985575	chr3:144826193-144826194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143392369	chr3:144826198-144826199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569998370	chr3:144826236-144826237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147168348	chr3:144826254-144826255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148207322	chr3:144826278-144826279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs207463814	chr3:144826307-144826308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185506928	chr3:144826352-144826353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192253092	chr3:144826358-144826359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs9833535	chr3:144826371-144826372	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs141288591	chr3:144826421-144826422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545200212	chr3:144826441-144826442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117687948	chr3:144826460-144826461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117931940	chr3:144826462-144826463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542949526	chr3:144826492-144826493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184042241	chr3:144826665-144826666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59845542	chr3:144826666-144826667	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574250913	chr3:144826667-144826668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61294843	chr3:144826673-144826674	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553619760	chr3:144826697-144826698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61161555	chr3:144826766-144826767	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150768477	chr3:144826802-144826803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13087584	chr3:144826827-144826828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551524680	chr3:144826828-144826829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543145726	chr3:144826835-144826836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569936708	chr3:144826886-144826887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537300568	chr3:144826908-144826909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549273093	chr3:144826926-144826927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139218329	chr3:144826947-144826948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535011905	chr3:144826996-144826997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200219877	chr3:144827007-144827008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72632317	chr3:144827008-144827009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62275331	chr3:144827037-144827038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561347047	chr3:144827038-144827039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578021652	chr3:144827081-144827082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375039317	chr3:144827114-144827115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531829188	chr3:144827161-144827162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34255343	chr3:144827188-144827189	ZNF genes & repeats Weak transcription	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144825800-144827600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:144826400-144829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:144827600-144828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:144828000-144829200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:144828400-144829200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:144828600-144829200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:144828600-144830000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:144828800-144829000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:144828800-144829200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:144828800-144829200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:144828800-144829200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:144829000-144829400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:144829000-144829400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:144829000-144834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:144829200-144829600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:144829200-144834600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:144829200-144834600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:144829200-144834800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:144829200-144834800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:144829400-144834600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:144829400-144834600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:144829600-144831800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:144830000-144834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:144830600-144831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:144831000-144834800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:144832600-144832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:144833200-144834800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:144834600-144835000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:144834600-144835000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:144834600-144835000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:144834600-144835200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:144834600-144835400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:144834600-144835400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:144834600-144835600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:144834800-144835200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:144834800-144835200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:144834800-144835200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:144834800-144835200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:144834800-144835600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:144834800-144835600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:144835000-144835400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:144835200-144836200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:144835200-144836200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:144836200-144836400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:144836200-144836400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:144851200-144853400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:144851400-144853000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:144851800-144852400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:144851800-144853000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:144851800-144853400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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