Variant report

Variant	esv3390169
Chromosome Location	chr2:95735525-95737948
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:
4	chr2:95724511..95727645-chr2:95737663..95740205,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144026	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180974993	chr2:95735551-95735552	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532385399	chr2:95735574-95735575	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548739545	chr2:95735577-95735578	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184558742	chr2:95735625-95735626	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534131060	chr2:95735655-95735656	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573952456	chr2:95735749-95735750	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554417443	chr2:95735814-95735815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75940621	chr2:95735890-95735891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534818543	chr2:95735940-95735941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553154831	chr2:95735946-95735947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145782573	chr2:95735947-95735948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189345989	chr2:95735954-95735955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543865869	chr2:95735961-95735962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563849256	chr2:95735967-95735968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149302308	chr2:95735979-95735980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574267357	chr2:95736034-95736035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540071304	chr2:95736106-95736107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369544819	chr2:95736148-95736149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549366311	chr2:95736168-95736169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374273239	chr2:95736251-95736252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532284460	chr2:95736301-95736302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552491715	chr2:95736302-95736303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567582621	chr2:95736312-95736313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562860029	chr2:95736429-95736430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112885713	chr2:95736434-95736435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182021151	chr2:95736440-95736441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113355945	chr2:95736441-95736442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543454120	chr2:95736557-95736558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531746300	chr2:95736567-95736568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529952475	chr2:95736591-95736592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185820648	chr2:95736604-95736605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369909943	chr2:95736665-95736666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs36160068	chr2:95736684-95736685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs36134811	chr2:95736693-95736694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551897095	chr2:95736731-95736732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190626157	chr2:95736736-95736737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12468577	chr2:95736826-95736827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534366138	chr2:95736833-95736834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113495558	chr2:95736841-95736842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186647690	chr2:95736852-95736853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547659389	chr2:95736877-95736878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35605066	chr2:95736879-95736880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190643383	chr2:95736918-95736919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112165248	chr2:95736989-95736990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182886125	chr2:95736991-95736992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546915317	chr2:95737021-95737022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574855603	chr2:95737022-95737023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535806452	chr2:95737026-95737027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574849928	chr2:95737030-95737031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187700595	chr2:95737033-95737034	Weak transcription	Chromatin interactive region	1 gene(s)	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95729600-95737200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:95729800-95737800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:95729800-95740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:95732200-95742400	Weak transcription	Pancreas	Pancrea
5	chr2:95733400-95742400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:95734200-95742400	Weak transcription	Right Atrium	heart
7	chr2:95734600-95735800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:95734600-95737200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:95734600-95737400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:95734800-95737400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:95735200-95735800	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr2:95735400-95735600	Enhancers	Fetal Thymus	thymus
13	chr2:95735600-95737600	Weak transcription	Fetal Thymus	thymus
14	chr2:95735800-95737200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:95737200-95741400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:95737200-95742400	Enhancers	Brain Angular Gyrus	brain
17	chr2:95737200-95742400	Enhancers	Brain Anterior Caudate	brain
18	chr2:95737200-95742400	Enhancers	Brain Hippocampus Middle	brain
19	chr2:95737400-95737800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:95737400-95740000	Enhancers	Thymus	Thymus
21	chr2:95737400-95740200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:95737400-95742400	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:95737400-95742400	Enhancers	Brain Substantia Nigra	brain
24	chr2:95737600-95737800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:95737600-95737800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:95737600-95738000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:95737600-95739800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:95737600-95740000	Enhancers	Fetal Thymus	thymus
29	chr2:95737800-95738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:95737800-95739600	Enhancers	Primary T cells from cord blood	blood
31	chr2:95737800-95742400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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