Variant report

Variant	esv3365261
Chromosome Location	chr3:85016662-85021560
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	chr3:85011548..85014009-chr3:85014905..85018347,3	MCF-7	breast:

Extended variants
information (count: 161 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs567531012	chr3:85016662-85016663	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72917435	chr3:85016741-85016742	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556366365	chr3:85016742-85016743	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574800096	chr3:85016743-85016744	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541825778	chr3:85016824-85016825	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11127869	chr3:85016881-85016882	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572732133	chr3:85016901-85016902	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573296274	chr3:85016908-85016909	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183452260	chr3:85016967-85016968	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564713605	chr3:85017008-85017009	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546914859	chr3:85017025-85017026	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs1248859	chr3:85017098-85017099	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142296340	chr3:85017146-85017147	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs562414032	chr3:85017164-85017165	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs529706665	chr3:85017213-85017214	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547740289	chr3:85017301-85017302	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187736234	chr3:85017331-85017332	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs527626296	chr3:85017369-85017370	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12485289	chr3:85017400-85017401	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150901799	chr3:85017421-85017422	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537621848	chr3:85017434-85017435	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550264866	chr3:85017497-85017498	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192737879	chr3:85017498-85017499	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182365370	chr3:85017521-85017522	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558658538	chr3:85017543-85017544	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34831749	chr3:85017566-85017567	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535853148	chr3:85017599-85017600	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188353153	chr3:85017615-85017616	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529231930	chr3:85017622-85017623	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575741981	chr3:85017627-85017628	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139388462	chr3:85017658-85017659	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572170486	chr3:85017707-85017708	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558469802	chr3:85017720-85017721	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576601388	chr3:85017758-85017759	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543615098	chr3:85017833-85017834	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562608576	chr3:85017858-85017859	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192585198	chr3:85017931-85017932	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541520839	chr3:85017950-85017951	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559756462	chr3:85017961-85017962	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554999349	chr3:85017965-85017966	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574706346	chr3:85018082-85018083	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371538711	chr3:85018108-85018109	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540394305	chr3:85018112-85018113	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552081566	chr3:85018124-85018125	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184107189	chr3:85018127-85018128	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs531543553	chr3:85018152-85018153	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549663963	chr3:85018153-85018154	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187611164	chr3:85018185-85018186	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535996943	chr3:85018189-85018190	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7645633	chr3:85018214-85018215	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85011200-85016800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:85011200-85016800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:85011600-85016800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:85011600-85016800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:85011600-85018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:85012000-85016800	Weak transcription	Brain Germinal Matrix	brain
7	chr3:85013400-85019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:85013600-85016800	Weak transcription	Fetal Brain Female	brain
9	chr3:85014400-85016800	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:85014400-85020000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:85014600-85016800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:85014800-85016800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:85015200-85016800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:85015200-85016800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:85015200-85016800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:85015400-85016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:85015400-85016800	Weak transcription	Brain Anterior Caudate	brain
18	chr3:85016200-85016800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:85016200-85016800	Weak transcription	Brain Angular Gyrus	brain
20	chr3:85016200-85016800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:85016200-85017600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr3:85016200-85018000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:85016400-85017600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:85016600-85016800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:85016600-85016800	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:85016600-85017000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:85016600-85017000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:85016600-85017600	Enhancers	Fetal Brain Male	brain
29	chr3:85016600-85017800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:85016600-85018000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:85016600-85018200	Active TSS	Psoas Muscle	Psoas
32	chr3:85016800-85017000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:85016800-85017000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr3:85016800-85017000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr3:85016800-85017000	Flanking Active TSS	Fetal Brain Female	brain
36	chr3:85016800-85017200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:85016800-85017200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:85016800-85017200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:85016800-85017200	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr3:85016800-85017200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr3:85016800-85017200	Enhancers	Fetal Muscle Leg	muscle
42	chr3:85016800-85017200	Enhancers	Fetal Stomach	stomach
43	chr3:85016800-85017400	Active TSS	Brain Angular Gyrus	brain
44	chr3:85016800-85017600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr3:85016800-85017600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr3:85016800-85017600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:85016800-85017600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:85016800-85018000	Active TSS	Brain Hippocampus Middle	brain
49	chr3:85016800-85018000	Active TSS	Brain Substantia Nigra	brain
50	chr3:85016800-85018000	Enhancers	Fetal Lung	lung

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