Variant report

Variant	esv3464725
Chromosome Location	chr4:7995216-7997325
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	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
2	chr4:7993971..7996546-chr4:8010581..8013516,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183161494	chr4:7995276-7995277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549819869	chr4:7995290-7995291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571156609	chr4:7995334-7995335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377190056	chr4:7995337-7995338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547415261	chr4:7995366-7995367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10016802	chr4:7995404-7995405	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536478578	chr4:7995426-7995427	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113867386	chr4:7995442-7995443	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569833566	chr4:7995445-7995446	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114635916	chr4:7995482-7995483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558964162	chr4:7995509-7995510	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577180180	chr4:7995514-7995515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34589252	chr4:7995524-7995525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541409101	chr4:7995532-7995533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553276694	chr4:7995533-7995534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13130459	chr4:7995559-7995560	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34216591	chr4:7995572-7995573	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542081968	chr4:7995595-7995596	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563560212	chr4:7995596-7995597	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371799087	chr4:7995620-7995621	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373858923	chr4:7995659-7995660	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368157935	chr4:7995662-7995663	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78084775	chr4:7995681-7995682	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552173003	chr4:7995693-7995694	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375224039	chr4:7995708-7995709	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369799336	chr4:7995710-7995711	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367588549	chr4:7995721-7995722	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377415098	chr4:7995805-7995806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562380515	chr4:7995891-7995892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564983450	chr4:7995929-7995930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532056410	chr4:7995931-7995932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377324253	chr4:7995981-7995982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530893040	chr4:7996085-7996086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566016100	chr4:7996130-7996131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530033139	chr4:7996151-7996152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370883688	chr4:7996469-7996470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186771238	chr4:7996503-7996504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62290619	chr4:7996579-7996580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375737341	chr4:7996733-7996734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371817299	chr4:7996739-7996740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202206822	chr4:7996755-7996756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192274228	chr4:7996866-7996867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570899583	chr4:7996923-7996924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534739987	chr4:7996974-7996975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368441665	chr4:7996992-7996993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12651521	chr4:7997016-7997017	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574462086	chr4:7997027-7997028	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56163224	chr4:7997028-7997029	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367878778	chr4:7997092-7997093	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371750607	chr4:7997146-7997147	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:7988400-8001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:7988600-7996800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:7989800-8005800	Weak transcription	Psoas Muscle	Psoas
9	chr4:7991600-8006600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:7992800-8006600	Weak transcription	Aorta	Aorta
11	chr4:7994200-8006000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:7994400-7997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:7994400-7997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:7994600-7997000	Weak transcription	Fetal Stomach	stomach
15	chr4:7994800-7995800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7995000-7997000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:7995200-7995400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7995200-7997000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:7995200-7997200	Weak transcription	Spleen	Spleen
20	chr4:7995200-8000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:7995600-7995800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:7995800-8004000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7997000-7997200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:7997000-7997200	Bivalent Enhancer	Placenta	Placenta
25	chr4:7997000-7997600	Bivalent Enhancer	HepG2	liver
26	chr4:7997000-7998200	ZNF genes & repeats	Fetal Stomach	stomach
27	chr4:7997000-7998400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:7997200-7998200	Enhancers	Spleen	Spleen
29	chr4:7997200-8001200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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