Variant report

Variant	esv3429286
Chromosome Location	chr4:7362851-7367049
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	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:

Extended variants
information (count: 252 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553443106	chr4:7362855-7362856	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186043892	chr4:7362875-7362876	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147300536	chr4:7362876-7362877	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554773077	chr4:7362915-7362916	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190379749	chr4:7362942-7362943	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182595386	chr4:7362983-7362984	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558470615	chr4:7362984-7362985	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576679442	chr4:7362997-7362998	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10937807	chr4:7363007-7363008	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187064340	chr4:7363026-7363027	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59366456	chr4:7363034-7363035	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541985339	chr4:7363038-7363039	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56803036	chr4:7363053-7363054	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567598999	chr4:7363071-7363072	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73210429	chr4:7363079-7363080	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552803372	chr4:7363089-7363090	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564775224	chr4:7363109-7363110	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528755132	chr4:7363110-7363111	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538476676	chr4:7363124-7363125	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192223908	chr4:7363130-7363131	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368162273	chr4:7363168-7363169	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536224330	chr4:7363173-7363174	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144325852	chr4:7363183-7363184	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144429115	chr4:7363202-7363203	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536850556	chr4:7363203-7363204	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148397187	chr4:7363229-7363230	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11736324	chr4:7363242-7363243	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs578091738	chr4:7363245-7363246	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142868075	chr4:7363275-7363276	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75939882	chr4:7363279-7363280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576738797	chr4:7363282-7363283	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142528667	chr4:7363295-7363296	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371360203	chr4:7363300-7363301	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374855355	chr4:7363312-7363313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114072896	chr4:7363331-7363332	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182890033	chr4:7363369-7363370	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs386671205	chr4:7363372-7363373	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554323641	chr4:7363403-7363404	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs374698135	chr4:7363420-7363421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs201617664	chr4:7363431-7363432	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs113544939	chr4:7363435-7363436	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs376987091	chr4:7363436-7363437	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs371820847	chr4:7363482-7363483	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs78214178	chr4:7363495-7363496	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs538757783	chr4:7363504-7363505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs77212556	chr4:7363510-7363511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs546429558	chr4:7363511-7363512	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs16835129	chr4:7363515-7363516	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528818304	chr4:7363534-7363535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs547008347	chr4:7363535-7363536	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7346600-7367200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7351400-7365000	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:7351600-7365000	Enhancers	Brain Substantia Nigra	brain
4	chr4:7353600-7364800	Enhancers	Brain Anterior Caudate	brain
5	chr4:7358200-7365000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:7358800-7366800	Weak transcription	Right Ventricle	heart
7	chr4:7359000-7363000	Weak transcription	Right Atrium	heart
8	chr4:7359200-7364600	Weak transcription	Gastric	stomach
9	chr4:7360200-7367200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:7360400-7364400	Weak transcription	Fetal Kidney	kidney
11	chr4:7360400-7367800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:7360600-7363000	Weak transcription	HSMM	muscle
13	chr4:7360600-7366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:7360800-7364400	Enhancers	Fetal Lung	lung
15	chr4:7361000-7364000	Enhancers	Fetal Stomach	stomach
16	chr4:7361000-7364600	Enhancers	Stomach Smooth Muscle	stomach
17	chr4:7361000-7365000	Enhancers	Brain Angular Gyrus	brain
18	chr4:7361000-7365000	Enhancers	Brain Hippocampus Middle	brain
19	chr4:7361400-7364800	Enhancers	Ovary	ovary
20	chr4:7361400-7365000	Enhancers	Brain Germinal Matrix	brain
21	chr4:7362000-7363200	Enhancers	Lung	lung
22	chr4:7362000-7364600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr4:7362200-7363600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:7362400-7363600	Enhancers	Fetal Brain Male	brain
25	chr4:7362400-7364400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:7362400-7364400	Enhancers	Fetal Muscle Trunk	muscle
27	chr4:7362600-7363200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7362600-7363200	Enhancers	Fetal Brain Female	brain
29	chr4:7362600-7363400	Enhancers	Left Ventricle	heart
30	chr4:7362600-7363400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:7362600-7364000	Enhancers	HSMMtube	muscle
32	chr4:7362800-7363000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:7362800-7363200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:7362800-7363400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:7362800-7363600	Enhancers	Fetal Heart	heart
36	chr4:7362800-7364400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:7363000-7363400	Enhancers	Right Atrium	heart
38	chr4:7363000-7364200	Enhancers	HSMM	muscle
39	chr4:7363200-7363400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:7363200-7363400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr4:7363200-7364600	Weak transcription	Lung	lung
42	chr4:7363400-7366400	Weak transcription	Left Ventricle	heart
43	chr4:7363400-7366400	Weak transcription	Right Atrium	heart
44	chr4:7363400-7366400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:7363600-7364000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr4:7363600-7364400	Weak transcription	Fetal Brain Male	brain
47	chr4:7363600-7366000	Weak transcription	Fetal Heart	heart
48	chr4:7363600-7368000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:7363800-7364600	Enhancers	Esophagus	oesophagus
50	chr4:7364000-7364600	ZNF genes & repeats	Fetal Stomach	stomach

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