Variant report

Variant	esv3398152
Chromosome Location	chr2:98607315-98608840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98605054..98607821-chr2:98616974..98618887,2	K562	blood:
2	chr2:98450761..98453323-chr2:98606323..98609073,2	K562	blood:
3	chr2:98604615..98607678-chr2:98611426..98614950,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6756969	chr2:98607338-98607339	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571412777	chr2:98607343-98607344	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530750242	chr2:98607367-98607368	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146755373	chr2:98607397-98607398	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182665350	chr2:98607402-98607403	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187843499	chr2:98607574-98607575	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535857651	chr2:98607584-98607585	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546146067	chr2:98607603-98607604	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139451115	chr2:98607716-98607717	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374508877	chr2:98607739-98607740	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558925041	chr2:98607791-98607792	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575779196	chr2:98607811-98607812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144075351	chr2:98607863-98607864	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3833701	chr2:98607883-98607884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192146336	chr2:98607889-98607890	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575145844	chr2:98607938-98607939	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540635614	chr2:98607988-98607989	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs560489886	chr2:98607996-98607997	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577456618	chr2:98608002-98608003	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546265264	chr2:98608011-98608012	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184510419	chr2:98608013-98608014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552893587	chr2:98608074-98608075	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371397482	chr2:98608075-98608076	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530752644	chr2:98608109-98608110	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550465474	chr2:98608120-98608121	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560855912	chr2:98608137-98608138	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150984068	chr2:98608196-98608197	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546234961	chr2:98608226-98608227	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530378500	chr2:98608273-98608274	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538388700	chr2:98608305-98608306	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190244434	chr2:98608318-98608319	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs192609342	chr2:98608341-98608342	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140974260	chr2:98608351-98608352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112729768	chr2:98608366-98608367	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554818805	chr2:98608417-98608418	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541955915	chr2:98608485-98608486	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370842018	chr2:98608522-98608523	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575260054	chr2:98608528-98608529	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534488589	chr2:98608540-98608541	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145778086	chr2:98608647-98608648	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184476468	chr2:98608666-98608667	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189235242	chr2:98608693-98608694	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563011773	chr2:98608750-98608751	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574006579	chr2:98608779-98608780	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34456132	chr2:98608797-98608798	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558512442	chr2:98608813-98608814	Weak transcription Active TSS Enhancers	n/a	n/a	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98596000-98609400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:98596200-98607800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:98596200-98607800	Weak transcription	Lung	lung
5	chr2:98596800-98608400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:98597000-98609800	Weak transcription	Fetal Stomach	stomach
7	chr2:98598200-98607800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
9	chr2:98600000-98607600	Weak transcription	NHEK	skin
10	chr2:98600200-98607800	Weak transcription	Spleen	Spleen
11	chr2:98600200-98609400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98600400-98607600	Weak transcription	Gastric	stomach
14	chr2:98600400-98607800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:98600400-98609800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:98600400-98610200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:98601000-98607800	Weak transcription	Pancreas	Pancrea
18	chr2:98601000-98607800	Weak transcription	Right Ventricle	heart
19	chr2:98601000-98609200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:98601200-98609400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:98601800-98607600	Weak transcription	Liver	Liver
22	chr2:98603000-98610000	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:98603400-98609200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:98603400-98610000	Weak transcription	Ovary	ovary
25	chr2:98603600-98607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:98603600-98607800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:98604000-98607800	Weak transcription	Psoas Muscle	Psoas
28	chr2:98605200-98608400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:98605200-98608600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:98605200-98609800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:98605400-98608000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:98605400-98609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:98605600-98607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:98605600-98607600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:98605600-98607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:98605600-98608200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:98605600-98609800	Enhancers	Primary B cells from cord blood	blood
38	chr2:98605600-98609800	Weak transcription	NHLF	lung
39	chr2:98606200-98608000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:98606200-98608200	Flanking Active TSS	GM12878-XiMat	blood
41	chr2:98606200-98608400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:98606200-98609800	Enhancers	HepG2	liver
43	chr2:98606200-98610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:98606200-98611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:98606200-98611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:98606400-98607800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:98606400-98608000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:98606400-98608800	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:98606400-98609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:98606400-98609800	Enhancers	Primary T helper cells PMA-I stimulated	--

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