Variant report

Variant	esv2760556
Chromosome Location	chr2:168259049-168283244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:75841123..75843118-chr2:168281700..168283742,2	MCF-7	breast:
2	chr2:168269906..168271420-chr2:168274025..168275558,2	K562	blood:
3	chr2:168269906..168271420-chr2:168274025..168275558,2	K562	blood:
4	chr2:168276375..168278559-chr2:168283313..168285075,2	MCF-7	breast:

Extended variants
information (count: 944 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144749412	chr2:168259049-168259050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13010759	chr2:168259060-168259061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78030640	chr2:168259086-168259087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200334225	chr2:168259140-168259141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73021770	chr2:168259167-168259168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537246249	chr2:168259202-168259203	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371761538	chr2:168259254-168259255	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546585298	chr2:168259331-168259332	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542434606	chr2:168259370-168259371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35400634	chr2:168259453-168259454	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185472762	chr2:168259474-168259475	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534717389	chr2:168259493-168259494	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548241258	chr2:168259573-168259574	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558832806	chr2:168259584-168259585	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568247957	chr2:168259631-168259632	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190971424	chr2:168259681-168259682	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557578689	chr2:168259689-168259690	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575825188	chr2:168259700-168259701	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111740512	chr2:168259778-168259779	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540078523	chr2:168259779-168259780	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59641038	chr2:168259785-168259786	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56269805	chr2:168259787-168259788	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398080794	chr2:168259792-168259793	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397738556	chr2:168259793-168259794	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146550025	chr2:168259802-168259803	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572844039	chr2:168259835-168259836	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541882950	chr2:168259847-168259848	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141169685	chr2:168259891-168259892	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183942409	chr2:168259901-168259902	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188842379	chr2:168259909-168259910	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564263199	chr2:168259939-168259940	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7565851	chr2:168259980-168259981	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540105721	chr2:168259989-168259990	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570946946	chr2:168260000-168260001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565141727	chr2:168260012-168260013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560030093	chr2:168260013-168260014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528451890	chr2:168260042-168260043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371289961	chr2:168260048-168260049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs193031032	chr2:168260051-168260052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs568457544	chr2:168260132-168260133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530994882	chr2:168260202-168260203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527299084	chr2:168260248-168260249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550799710	chr2:168260254-168260255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570997648	chr2:168260258-168260259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539661621	chr2:168260290-168260291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183453053	chr2:168260339-168260340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535151868	chr2:168260353-168260354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2689849	chr2:168260359-168260360	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187014800	chr2:168260375-168260376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560989663	chr2:168260379-168260380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168246800-168263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168254400-168260000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:168254600-168261200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168255600-168260800	Weak transcription	Fetal Brain Male	brain
5	chr2:168256400-168259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:168258200-168260800	Weak transcription	Fetal Brain Female	brain
7	chr2:168259000-168260000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:168259200-168261000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:168260000-168261000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:168260000-168261000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:168260000-168263000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:168260200-168261600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:168260400-168261200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:168260400-168261600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:168260600-168260800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:168260600-168261000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr2:168260800-168261400	Enhancers	Fetal Brain Male	brain
18	chr2:168260800-168261600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:168260800-168261600	Enhancers	Fetal Brain Female	brain
20	chr2:168260800-168261800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:168260800-168263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:168261000-168261400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:168261000-168261400	Enhancers	Brain Germinal Matrix	brain
24	chr2:168261000-168261800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:168261000-168262200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:168261000-168262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:168261000-168262600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:168261000-168262600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:168261200-168261400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:168261200-168261600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:168261200-168262600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:168261200-168262800	Enhancers	NH-A	brain
33	chr2:168261200-168263600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:168261400-168262000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:168261400-168263000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:168261400-168266000	Weak transcription	Fetal Brain Male	brain
37	chr2:168261600-168262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:168261600-168262800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:168261800-168262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:168261800-168266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:168262000-168262200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr2:168262000-168262600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:168262200-168262600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:168262200-168263400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:168262200-168263400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:168262600-168262800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:168262600-168263200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:168262600-168263200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:168262600-168263200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:168262600-168263200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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