Variant report

Variant	esv3451267
Chromosome Location	chr2:98588690-98590336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98586492..98590623-chr2:98609849..98613256,4	MCF-7	breast:
2	chr2:98582131..98586071-chr2:98586872..98589219,3	K562	blood:

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186050187	chr2:98588770-98588771	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114521051	chr2:98588834-98588835	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570330692	chr2:98588843-98588844	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533271843	chr2:98588874-98588875	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151287991	chr2:98588900-98588901	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543896388	chr2:98588915-98588916	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13019294	chr2:98588950-98588951	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111641658	chr2:98588953-98588954	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13019297	chr2:98588955-98588956	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569396801	chr2:98588966-98588967	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373466255	chr2:98589038-98589039	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79418123	chr2:98589080-98589081	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142104859	chr2:98589082-98589083	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534350676	chr2:98589117-98589118	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527546347	chr2:98589201-98589202	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190815384	chr2:98589248-98589249	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570379324	chr2:98589270-98589271	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539203506	chr2:98589275-98589276	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556283555	chr2:98589305-98589306	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183414932	chr2:98589332-98589333	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185830767	chr2:98589336-98589337	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564045473	chr2:98589382-98589383	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555965367	chr2:98589413-98589414	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2017028	chr2:98589451-98589452	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs541664780	chr2:98589494-98589495	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546975282	chr2:98589496-98589497	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549609914	chr2:98589527-98589528	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557915287	chr2:98589539-98589540	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565131002	chr2:98589637-98589638	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11898394	chr2:98589654-98589655	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563419987	chr2:98589723-98589724	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529319625	chr2:98589770-98589771	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541637549	chr2:98589771-98589772	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561504009	chr2:98589774-98589775	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190686541	chr2:98589783-98589784	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547664333	chr2:98589814-98589815	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563964561	chr2:98589819-98589820	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532923677	chr2:98589820-98589821	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549927118	chr2:98589824-98589825	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113116337	chr2:98589884-98589885	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147771567	chr2:98589901-98589902	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112589715	chr2:98589924-98589925	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566261715	chr2:98589950-98589951	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11892146	chr2:98589965-98589966	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558414637	chr2:98589982-98589983	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76071282	chr2:98589989-98589990	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537069329	chr2:98590002-98590003	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73960441	chr2:98590018-98590019	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556901296	chr2:98590023-98590024	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141407426	chr2:98590056-98590057	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98563600-98589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:98568400-98592000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98575000-98589000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:98575200-98592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:98575400-98595000	Weak transcription	HSMM	muscle
7	chr2:98580000-98589800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:98581000-98589600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:98583000-98588800	Enhancers	HepG2	liver
10	chr2:98583200-98589400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:98583600-98595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:98583800-98589200	Weak transcription	Hela-S3	cervix
13	chr2:98584600-98590000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:98584600-98597000	Weak transcription	Thymus	Thymus
15	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:98585200-98589800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:98585400-98591200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:98585600-98594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:98586600-98589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:98586600-98589400	Weak transcription	NHDF-Ad	bronchial
21	chr2:98586600-98589600	Weak transcription	Fetal Lung	lung
22	chr2:98586800-98589000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:98586800-98590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:98587000-98594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:98587000-98595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:98587200-98589000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:98587200-98589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:98587200-98589800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:98587200-98589800	Weak transcription	Right Atrium	heart
30	chr2:98587200-98590000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:98587200-98591200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:98587400-98589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:98587400-98589000	Weak transcription	Aorta	Aorta
34	chr2:98587400-98589000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:98587400-98589200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:98587400-98589200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:98587400-98589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:98587400-98589800	Weak transcription	Left Ventricle	heart
39	chr2:98587400-98592400	Weak transcription	Ovary	ovary
40	chr2:98587400-98599600	Weak transcription	Spleen	Spleen
41	chr2:98587800-98595400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:98587800-98600000	Weak transcription	Gastric	stomach
43	chr2:98588000-98589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:98588200-98592600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr2:98588200-98596000	Weak transcription	Stomach Mucosa	stomach
46	chr2:98588400-98589200	Weak transcription	GM12878-XiMat	blood
47	chr2:98588400-98589600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:98588400-98590200	Enhancers	Psoas Muscle	Psoas
49	chr2:98588600-98588800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:98588600-98589200	Weak transcription	Primary B cells from peripheral blood	blood

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