Variant report

Variant	esv992954
Chromosome Location	chr2:96761562-96770977
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96763569..96765182-chr2:96766905..96769114,2	K562	blood:
2	chr2:96756859..96760447-chr2:96767234..96769715,4	K562	blood:
3	chr2:96757870..96760029-chr2:96767125..96768739,2	MCF-7	breast:
4	chr2:96763569..96765182-chr2:96766905..96769114,2	K562	blood:
5	chr2:96765520..96767049-chr2:96809715..96812568,2	MCF-7	breast:
6	chr2:96770104..96776221-chr2:96777736..96784239,9	MCF-7	breast:
7	chr2:96768848..96771320-chr2:96776985..96780678,4	K562	blood:
8	chr2:96754123..96757628-chr2:96759130..96761881,3	K562	blood:
9	chr2:96762558..96765319-chr2:96774708..96776428,2	K562	blood:
10	chr2:96765837..96768170-chr2:96780519..96784098,4	MCF-7	breast:
11	chr2:96767619..96769366-chr2:96771317..96772913,2	MCF-7	breast:
12	chr2:96769737..96771522-chr2:96772870..96775346,2	MCF-7	breast:
13	chr2:96769361..96771911-chr2:96776985..96778762,2	K562	blood:
14	chr2:96766427..96768591-chr2:96778243..96780408,2	K562	blood:
15	chr2:96769517..96771979-chr2:96781918..96783452,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000158050	chromatin interactions
ENSG00000222040	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543279700	chr2:96761568-96761569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191996394	chr2:96761581-96761582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545344915	chr2:96761625-96761626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376729462	chr2:96761653-96761654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530857435	chr2:96761658-96761659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550851198	chr2:96761719-96761720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560942784	chr2:96761748-96761749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567651330	chr2:96761768-96761769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530208840	chr2:96761777-96761778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374513194	chr2:96761884-96761885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183048371	chr2:96761892-96761893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35071702	chr2:96761979-96761980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528243055	chr2:96762007-96762008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61704487	chr2:96762052-96762053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77286561	chr2:96762086-96762087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565730205	chr2:96762181-96762182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35287353	chr2:96762196-96762197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188224931	chr2:96762284-96762285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557884622	chr2:96762287-96762288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368790249	chr2:96762312-96762313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571146800	chr2:96762343-96762344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537078065	chr2:96762347-96762348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369243062	chr2:96762370-96762371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113116280	chr2:96762371-96762372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542808605	chr2:96762402-96762403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552900785	chr2:96762417-96762418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532138519	chr2:96762418-96762419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1917889	chr2:96762419-96762420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184248961	chr2:96762472-96762473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545165857	chr2:96762516-96762517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189249926	chr2:96762550-96762551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4399761	chr2:96762570-96762571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530796960	chr2:96762613-96762614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13413120	chr2:96762661-96762662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561213516	chr2:96762678-96762679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200620652	chr2:96762687-96762688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143525802	chr2:96762690-96762691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547125617	chr2:96762702-96762703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566949354	chr2:96762737-96762738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560697900	chr2:96762759-96762760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551176099	chr2:96762838-96762839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550575732	chr2:96762861-96762862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537018322	chr2:96762911-96762912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192399692	chr2:96762918-96762919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567525078	chr2:96762924-96762925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376211149	chr2:96762961-96762962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113251550	chr2:96763007-96763008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536551417	chr2:96763008-96763009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184860221	chr2:96763055-96763056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13426632	chr2:96763065-96763066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96758200-96765800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:96758400-96763800	Weak transcription	Left Ventricle	heart
3	chr2:96758600-96763800	Weak transcription	Right Ventricle	heart
4	chr2:96758600-96763800	Weak transcription	Spleen	Spleen
5	chr2:96759000-96764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:96759800-96761600	Enhancers	K562	blood
7	chr2:96760600-96761600	Enhancers	Placenta	Placenta
8	chr2:96761600-96765800	Weak transcription	Placenta	Placenta
9	chr2:96763000-96763200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:96763200-96765600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:96763800-96764600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:96763800-96765000	Enhancers	Lung	lung
13	chr2:96763800-96765000	Enhancers	Psoas Muscle	Psoas
14	chr2:96763800-96765400	Enhancers	Right Ventricle	heart
15	chr2:96763800-96765400	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:96763800-96766200	Enhancers	Spleen	Spleen
17	chr2:96763800-96767000	Enhancers	Left Ventricle	heart
18	chr2:96763800-96770800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr2:96764000-96765200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:96764000-96766200	Enhancers	Right Atrium	heart
21	chr2:96764000-96766600	Enhancers	Adipose Nuclei	Adipose
22	chr2:96764400-96765000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:96764400-96765200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:96764400-96765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:96764400-96765200	Enhancers	Fetal Heart	heart
26	chr2:96764400-96765200	Enhancers	Pancreas	Pancrea
27	chr2:96764400-96765200	Enhancers	HSMM	muscle
28	chr2:96764400-96765400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:96764400-96766600	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:96764400-96766600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:96764400-96768600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:96764600-96765000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:96764600-96765400	Enhancers	Fetal Stomach	stomach
34	chr2:96764600-96768400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:96764800-96765000	Enhancers	Liver	Liver
36	chr2:96764800-96765200	Enhancers	HSMMtube	muscle
37	chr2:96764800-96766600	Enhancers	Dnd41	blood
38	chr2:96764800-96766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:96764800-96768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:96765000-96765200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:96765000-96765400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:96765000-96766400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:96765000-96767600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:96765000-96768800	Weak transcription	Liver	Liver
45	chr2:96765000-96770200	Weak transcription	Lung	lung
46	chr2:96765200-96765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:96765200-96766000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:96765200-96766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:96765200-96766600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:96765200-96766800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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