Variant report

Variant	esv2422150
Chromosome Location	chr2:95730974-95735466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95724354..95726435-chr2:95734944..95737851,2	MCF-7	breast:
2	chr2:95734800..95737565-chr2:95824540..95826523,2	MCF-7	breast:
3	chr2:95734957..95736843-chr2:95739630..95742523,2	K562	blood:

Variant related genes	Relation type
ENSG00000144026	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535666661	chr2:95730981-95730982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549236676	chr2:95730983-95730984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566035340	chr2:95730989-95730990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150255920	chr2:95730994-95730995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553479936	chr2:95731010-95731011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368424244	chr2:95731035-95731036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374251203	chr2:95731072-95731073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111904405	chr2:95731089-95731090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3112987	chr2:95731101-95731102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539140531	chr2:95731102-95731103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556259855	chr2:95731129-95731130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541202577	chr2:95731138-95731139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576272186	chr2:95731178-95731179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542070758	chr2:95731245-95731246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145792467	chr2:95731287-95731288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577326055	chr2:95731391-95731392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182576463	chr2:95731402-95731403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75263009	chr2:95731425-95731426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564300150	chr2:95731440-95731441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533397385	chr2:95731443-95731444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188040141	chr2:95731471-95731472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193079292	chr2:95731536-95731537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375284380	chr2:95731571-95731572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185813777	chr2:95731642-95731643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188982129	chr2:95731661-95731662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192241388	chr2:95731685-95731686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528758240	chr2:95731707-95731708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2874315	chr2:95731727-95731728	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs184028684	chr2:95731733-95731734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368779242	chr2:95731748-95731749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539436612	chr2:95731758-95731759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555959911	chr2:95731787-95731788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559899509	chr2:95731788-95731789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188711097	chr2:95731789-95731790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372189242	chr2:95731801-95731802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149008202	chr2:95731820-95731821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572318892	chr2:95731853-95731854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76953317	chr2:95731888-95731889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540960250	chr2:95731892-95731893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181428755	chr2:95731945-95731946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578112474	chr2:95731972-95731973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75047240	chr2:95732003-95732004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543822799	chr2:95732007-95732008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371829071	chr2:95732014-95732015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145874241	chr2:95732015-95732016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542739900	chr2:95732017-95732018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559516797	chr2:95732035-95732036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528722198	chr2:95732084-95732085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551744690	chr2:95732111-95732112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74334627	chr2:95732150-95732151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95725800-95732000	Weak transcription	Pancreas	Pancrea
2	chr2:95729000-95731000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:95729600-95737200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:95729800-95734400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:95729800-95734600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:95729800-95737800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:95729800-95740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:95731000-95731200	Enhancers	Brain Anterior Caudate	brain
9	chr2:95732000-95732200	Enhancers	Pancreas	Pancrea
10	chr2:95732200-95742400	Weak transcription	Pancreas	Pancrea
11	chr2:95733400-95742400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:95733800-95734600	Enhancers	Brain Substantia Nigra	brain
13	chr2:95734000-95734600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:95734200-95742400	Weak transcription	Right Atrium	heart
15	chr2:95734400-95734800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:95734600-95735800	Enhancers	Brain Hippocampus Middle	brain
17	chr2:95734600-95737200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:95734600-95737400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:95734800-95737400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:95735000-95735200	Bivalent Enhancer	HepG2	liver
21	chr2:95735200-95735800	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr2:95735400-95735600	Enhancers	Fetal Thymus	thymus

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