Variant report

Variant	nsv875286
Chromosome Location	chr2:151685251-151731950
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	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
2	chr2:151342790..151344508-chr2:151701178..151703599,2	MCF-7	breast:
3	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
4	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
5	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
6	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
7	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
8	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
9	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 1732 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6729783	chr2:151685251-151685252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370523291	chr2:151685287-151685288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73967445	chr2:151685292-151685293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73967446	chr2:151685302-151685303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547346910	chr2:151685350-151685351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570642725	chr2:151685363-151685364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532944702	chr2:151685405-151685406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370667351	chr2:151685409-151685410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548460985	chr2:151685432-151685433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376660282	chr2:151685435-151685436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140373178	chr2:151685507-151685508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73967447	chr2:151685542-151685543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114844482	chr2:151685545-151685546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555378828	chr2:151685555-151685556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78584341	chr2:151685581-151685582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534998681	chr2:151685591-151685592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558124587	chr2:151685610-151685611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191770953	chr2:151685635-151685636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182813803	chr2:151685640-151685641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6715480	chr2:151685652-151685653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145549844	chr2:151685653-151685654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73967448	chr2:151685724-151685725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561689030	chr2:151685731-151685732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1541436	chr2:151685743-151685744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541320639	chr2:151685759-151685760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564183830	chr2:151685781-151685782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116199649	chr2:151685811-151685812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114603934	chr2:151685841-151685842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564084338	chr2:151685881-151685882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79768769	chr2:151685896-151685897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138112615	chr2:151686004-151686005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187142287	chr2:151686073-151686074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78288514	chr2:151686109-151686110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112328555	chr2:151686124-151686125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551744257	chr2:151686150-151686151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528647005	chr2:151686193-151686194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190056919	chr2:151686205-151686206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571895214	chr2:151686218-151686219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542735806	chr2:151686236-151686237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371836334	chr2:151686263-151686264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73967449	chr2:151686277-151686278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531813394	chr2:151686302-151686303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149506419	chr2:151686313-151686314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560913021	chr2:151686334-151686335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546316631	chr2:151686381-151686382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182350776	chr2:151686402-151686403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187760262	chr2:151686527-151686528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193129882	chr2:151686556-151686557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555455230	chr2:151686619-151686620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114069231	chr2:151686621-151686622	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151684600-151686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:151685800-151687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:151686600-151686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:151686800-151688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:151688200-151689200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:151688600-151689800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151689000-151690000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:151689200-151699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:151697200-151697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:151697600-151698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:151698000-151698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:151698800-151702800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:151699000-151699800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:151699600-151701000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:151699600-151702400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:151701000-151706000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:151701800-151702200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:151701800-151702400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:151702000-151704600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:151702200-151706000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:151702400-151704800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:151702600-151702800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:151702600-151705000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:151702600-151705000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:151702800-151703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:151702800-151703800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:151702800-151703800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:151702800-151704800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:151702800-151704800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:151702800-151704800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:151703000-151703200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:151703000-151703400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:151703000-151703800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:151703000-151704600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:151703000-151704800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:151703200-151704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:151703400-151703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:151703400-151705000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:151703600-151704600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:151703600-151704800	Enhancers	Fetal Lung	lung
41	chr2:151703800-151704600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:151703800-151704600	Enhancers	Stomach Mucosa	stomach
43	chr2:151704200-151704600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:151704200-151704600	Enhancers	Fetal Stomach	stomach
45	chr2:151704200-151704600	Enhancers	Gastric	stomach
46	chr2:151704600-151706200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:151704600-151706200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:151704800-151706000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:151705000-151705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:151705600-151706800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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