Variant report

Variant	esv3415619
Chromosome Location	chr2:99752270-99754268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:99753303-99753541	HL-60	blood:	n/a	n/a
2	SPI1	chr2:99753375-99753492	K562	blood:	n/a	n/a
3	SPI1	chr2:99753277-99753544	HL-60	blood:	n/a	n/a
4	ZNF384	chr2:99753267-99753617	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99737056..99739481-chr2:99752049..99753991,2	MCF-7	breast:
2	chr2:99751840..99754191-chr2:99952770..99955283,2	MCF-7	breast:
3	chr2:99752682..99755337-chr2:99756048..99758587,4	MCF-7	breast:

Variant related genes	Relation type
C2orf15	TF binding region
ENSG00000273045	TF binding region
ENSG00000115514	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000135951	chromatin interactions
ENSG00000273045	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536343472	chr2:99752277-99752278	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539547342	chr2:99752394-99752395	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78086624	chr2:99752471-99752472	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76352392	chr2:99752473-99752474	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56120844	chr2:99752484-99752485	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13034379	chr2:99752485-99752486	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
7	rs552677727	chr2:99752494-99752495	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150101556	chr2:99752611-99752612	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544816825	chr2:99752678-99752679	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191136322	chr2:99752704-99752705	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78543167	chr2:99752751-99752752	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs544223513	chr2:99752832-99752833	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs13385055	chr2:99752978-99752979	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs113746291	chr2:99752981-99752982	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs113206416	chr2:99752982-99752983	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs377092291	chr2:99752986-99752987	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs529301143	chr2:99752987-99752988	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs545741091	chr2:99752999-99753000	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549443994	chr2:99753027-99753028	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559901866	chr2:99753032-99753033	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs528669327	chr2:99753036-99753037	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112307533	chr2:99753064-99753065	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552009037	chr2:99753068-99753069	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs564397866	chr2:99753114-99753115	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs111467495	chr2:99753272-99753273	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs140637605	chr2:99753297-99753298	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs148067303	chr2:99753298-99753299	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs147369736	chr2:99753300-99753301	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs185757630	chr2:99753346-99753347	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs531684446	chr2:99753348-99753349	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs551036605	chr2:99753413-99753414	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs567231423	chr2:99753416-99753417	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs191128154	chr2:99753445-99753446	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs542339372	chr2:99753464-99753465	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs11430590	chr2:99753465-99753466	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs80284770	chr2:99753479-99753480	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs75227679	chr2:99753480-99753481	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs75802785	chr2:99753482-99753483	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs138465314	chr2:99753522-99753523	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs183272098	chr2:99753531-99753532	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs538398136	chr2:99753556-99753557	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545913375	chr2:99753566-99753567	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs558338325	chr2:99753619-99753620	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs148820796	chr2:99753635-99753636	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs544474727	chr2:99753651-99753652	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs528966007	chr2:99753691-99753692	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs145290476	chr2:99753705-99753706	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs557877822	chr2:99753733-99753734	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs573946194	chr2:99753748-99753749	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs572991052	chr2:99753783-99753784	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99742800-99757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:99743200-99757000	Weak transcription	Small Intestine	intestine
3	chr2:99743400-99756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:99743400-99756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:99743400-99756800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:99748800-99753000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:99750200-99756200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:99751000-99756600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:99751200-99756800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:99751600-99755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:99751800-99756400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:99752200-99753600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:99753600-99754200	Enhancers	Monocytes-CD14+_RO01746	blood

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