Variant report

Variant	nsv875292
Chromosome Location	chr2:153308471-153357383
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
2	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
3	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
4	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
5	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
6	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:
7	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
8	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:
9	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
10	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
11	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
12	chr2:153328146..153330092-chr2:153417447..153419357,2	K562	blood:
13	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
14	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
15	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:
16	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
17	chr2:153046496..153047091-chr2:153322438..153323156,3	MCF-7	breast:
18	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:
19	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
20	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
21	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
22	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:
23	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
24	chr2:153030200..153033527-chr2:153319932..153322243,3	MCF-7	breast:
25	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
26	chr2:153190311..153192513-chr2:153322864..153325186,2	MCF-7	breast:
27	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
28	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:
29	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157827	chromatin interactions
ENSG00000115145	chromatin interactions

Extended variants
information (count: 1702 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1702 , 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	rs6713348	chr2:153308471-153308472	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565997873	chr2:153308486-153308487	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570211184	chr2:153308606-153308607	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551660449	chr2:153308612-153308613	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571854032	chr2:153308651-153308652	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537137617	chr2:153308678-153308679	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77679560	chr2:153308685-153308686	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146524031	chr2:153308701-153308702	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186659688	chr2:153308706-153308707	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191455304	chr2:153308733-153308734	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553421924	chr2:153308928-153308929	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16831141	chr2:153308942-153308943	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182495854	chr2:153308977-153308978	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557665879	chr2:153308979-153308980	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577810063	chr2:153308980-153308981	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143149839	chr2:153308983-153308984	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563351196	chr2:153309007-153309008	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78011331	chr2:153309009-153309010	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76968526	chr2:153309014-153309015	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35563737	chr2:153309052-153309053	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397689103	chr2:153309059-153309060	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61267722	chr2:153309085-153309086	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528756433	chr2:153309181-153309182	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35243910	chr2:153309197-153309198	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188154581	chr2:153309199-153309200	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114875179	chr2:153309273-153309274	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539275332	chr2:153309279-153309280	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531084881	chr2:153309296-153309297	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148214252	chr2:153309303-153309304	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371504669	chr2:153309312-153309313	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115611960	chr2:153309324-153309325	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193087640	chr2:153309437-153309438	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553383444	chr2:153309439-153309440	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533262909	chr2:153309444-153309445	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140243185	chr2:153309445-153309446	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576521356	chr2:153309455-153309456	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112381387	chr2:153309533-153309534	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534907035	chr2:153309535-153309536	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557991680	chr2:153309541-153309542	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112819419	chr2:153309544-153309545	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190333071	chr2:153309577-153309578	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556910615	chr2:153309649-153309650	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573380034	chr2:153309651-153309652	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112498992	chr2:153309692-153309693	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558911665	chr2:153309723-153309724	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551830127	chr2:153309724-153309725	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370154242	chr2:153309739-153309740	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71394484	chr2:153309751-153309752	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137862160	chr2:153309791-153309792	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544678659	chr2:153309823-153309824	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1742 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:153295400-153311000	Weak transcription	Ovary	ovary
3	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:153300600-153311200	Weak transcription	Lung	lung
5	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
6	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
8	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
10	chr2:153302600-153309200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:153302600-153309800	Weak transcription	Fetal Stomach	stomach
12	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
14	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
15	chr2:153303200-153309200	Weak transcription	A549	lung
16	chr2:153303400-153311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:153303400-153322600	Weak transcription	NHLF	lung
18	chr2:153303600-153311000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:153303600-153312000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153304000-153309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:153304400-153309200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:153304400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:153304600-153309600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:153304600-153312000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:153304800-153308800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:153305000-153308600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:153305200-153308800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:153305200-153312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:153305200-153312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:153305200-153312400	Weak transcription	HMEC	breast
32	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:153305800-153308800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:153305800-153309800	Weak transcription	Fetal Lung	lung
35	chr2:153306200-153309400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
37	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:153306800-153309800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:153307000-153308800	Strong transcription	NHEK	skin
40	chr2:153307000-153310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:153307200-153308600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:153307200-153308800	Weak transcription	Fetal Brain Male	brain
43	chr2:153307200-153309400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:153307400-153309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:153307400-153309200	Weak transcription	Pancreas	Pancrea
46	chr2:153307600-153313200	Enhancers	HepG2	liver
47	chr2:153307800-153308800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:153307800-153309600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:153307800-153310600	Enhancers	Fetal Brain Female	brain
50	chr2:153308000-153308600	Enhancers	HUES64 Cell Line	embryonic stem cell

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