Variant report

Variant	esv2754362
Chromosome Location	chr2:153297577-153366129
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153030200..153033527-chr2:153319932..153322243,3	MCF-7	breast:
2	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
3	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:
4	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
5	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:
6	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
7	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
8	chr2:153365869..153368986-chr2:153378102..153382040,3	MCF-7	breast:
9	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
10	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
11	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
12	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
13	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:
14	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
15	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
16	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
17	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
18	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
19	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:
20	chr2:153191085..153193954-chr2:153302933..153305841,2	MCF-7	breast:
21	chr2:153290893..153293486-chr2:153295142..153297714,3	K562	blood:
22	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
23	chr2:153046496..153047091-chr2:153322438..153323156,3	MCF-7	breast:
24	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
25	chr2:153328146..153330092-chr2:153417447..153419357,2	K562	blood:
26	chr2:153364136..153366729-chr2:153467251..153469526,2	MCF-7	breast:
27	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
28	chr2:153362103..153364845-chr2:153366999..153369468,2	K562	blood:
29	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
30	chr2:153361979..153364845-chr2:153366999..153370828,3	K562	blood:
31	chr2:153190311..153192513-chr2:153322864..153325186,2	MCF-7	breast:
32	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:
33	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:
34	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
35	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
36	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:
37	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
38	chr2:153296273..153298770-chr2:153299861..153302070,2	K562	blood:
39	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:
40	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
41	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
42	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
43	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
44	chr2:153296273..153298770-chr2:153299861..153302070,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115145	chromatin interactions
ENSG00000157827	chromatin interactions

Extended variants
information (count: 2401 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2401 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6737699	chr2:153297577-153297578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536151175	chr2:153297582-153297583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs13390698	chr2:153297594-153297595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572814004	chr2:153297600-153297601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188891526	chr2:153297604-153297605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564761782	chr2:153297690-153297691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552051662	chr2:153297733-153297734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574960968	chr2:153297754-153297755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79404839	chr2:153297794-153297795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560701208	chr2:153297800-153297801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529742270	chr2:153297840-153297841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375646537	chr2:153297936-153297937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181746442	chr2:153297940-153297941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35205899	chr2:153297946-153297947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13003885	chr2:153297991-153297992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148552728	chr2:153298021-153298022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62180798	chr2:153298052-153298053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186407605	chr2:153298059-153298060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13026560	chr2:153298077-153298078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548708970	chr2:153298086-153298087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13026712	chr2:153298093-153298094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534159820	chr2:153298138-153298139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553885648	chr2:153298154-153298155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147689266	chr2:153298157-153298158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191169403	chr2:153298204-153298205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558316070	chr2:153298254-153298255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575124956	chr2:153298281-153298282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543970099	chr2:153298314-153298315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180786257	chr2:153298324-153298325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574451370	chr2:153298336-153298337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540197497	chr2:153298343-153298344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35741575	chr2:153298348-153298349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78172985	chr2:153298349-153298350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397822932	chr2:153298359-153298360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559907405	chr2:153298387-153298388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532837660	chr2:153298397-153298398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546546163	chr2:153298483-153298484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542539988	chr2:153298518-153298519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561274334	chr2:153298603-153298604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142464170	chr2:153298677-153298678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531329092	chr2:153298706-153298707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146355311	chr2:153298725-153298726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147887108	chr2:153298739-153298740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568496906	chr2:153298771-153298772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140450110	chr2:153298779-153298780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547736950	chr2:153298781-153298782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185961201	chr2:153298785-153298786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538524587	chr2:153298787-153298788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13033209	chr2:153298827-153298828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568702577	chr2:153298834-153298835	Weak transcription Enhancers	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:2316 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
3	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
5	chr2:153289200-153301800	Weak transcription	NH-A	brain
6	chr2:153289600-153301400	Weak transcription	Fetal Thymus	thymus
7	chr2:153290200-153300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153291200-153300600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:153291600-153300000	Weak transcription	Right Atrium	heart
10	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:153291800-153300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:153292800-153298000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:153293600-153302400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:153294200-153298400	Weak transcription	GM12878-XiMat	blood
15	chr2:153294600-153297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:153294600-153300600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:153294800-153298000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:153295000-153302200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:153295200-153300800	Weak transcription	HepG2	liver
20	chr2:153295400-153299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:153295400-153299600	Weak transcription	Psoas Muscle	Psoas
22	chr2:153295400-153299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:153295400-153300000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:153295400-153300200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153295400-153300800	Weak transcription	Fetal Brain Female	brain
26	chr2:153295400-153302000	Weak transcription	Fetal Stomach	stomach
27	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:153295400-153311000	Weak transcription	Ovary	ovary
29	chr2:153295600-153298000	Enhancers	Brain Angular Gyrus	brain
30	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:153296000-153298000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:153296000-153298600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:153296000-153301800	Weak transcription	Fetal Brain Male	brain
34	chr2:153296400-153298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:153296600-153297600	Flanking Active TSS	NHEK	skin
36	chr2:153297000-153298000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:153297000-153299400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:153297000-153299600	Weak transcription	Placenta	Placenta
39	chr2:153297000-153300000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:153297000-153300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:153297000-153300400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:153297000-153301200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:153297000-153301400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:153297000-153302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:153297000-153302200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:153297200-153298000	Enhancers	HMEC	breast
48	chr2:153297200-153300400	Weak transcription	Fetal Lung	lung
49	chr2:153297200-153301400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:153297200-153301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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