Variant report

Variant	esv1824898
Chromosome Location	chr1:9847032-9856434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9849986..9852429-chr1:9882664..9886615,3	MCF-7	breast:
2	chr1:9851605..9853089-chr1:9927228..9928149,4	MCF-7	breast:
3	chr1:9850230..9850981-chr1:220848009..220848904,2	MCF-7	breast:
4	chr1:9855972..9858555-chr1:9861978..9863923,2	MCF-7	breast:
5	chr1:9851033..9853778-chr1:9882451..9884467,4	MCF-7	breast:
6	chr1:9852437..9854426-chr1:9882312..9884327,2	MCF-7	breast:
7	chr1:9852615..9854985-chr1:9884936..9886688,2	MCF-7	breast:
8	chr1:9847449..9849226-chr1:9882664..9884165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171603	chromatin interactions

Extended variants
information (count: 423 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79829787	chr1:9847073-9847074	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561095123	chr1:9847159-9847160	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531552272	chr1:9847188-9847189	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546340766	chr1:9847193-9847194	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111817764	chr1:9847237-9847238	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370450258	chr1:9847242-9847243	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144078921	chr1:9847260-9847261	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533499554	chr1:9847280-9847281	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551744097	chr1:9847289-9847290	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74051984	chr1:9847290-9847291	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186395363	chr1:9847300-9847301	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77178462	chr1:9847321-9847322	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368771872	chr1:9847441-9847442	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538912807	chr1:9847461-9847462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78663921	chr1:9847477-9847478	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs70998310	chr1:9847479-9847480	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189987553	chr1:9847485-9847486	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180841135	chr1:9847500-9847501	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184912835	chr1:9847501-9847502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577307693	chr1:9847507-9847508	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538391969	chr1:9847539-9847540	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553678377	chr1:9847554-9847555	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571952709	chr1:9847563-9847564	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189672863	chr1:9847587-9847588	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367980806	chr1:9847616-9847617	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184082782	chr1:9847652-9847653	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565117388	chr1:9847663-9847664	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12038431	chr1:9847668-9847669	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533464307	chr1:9847681-9847682	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551587608	chr1:9847682-9847683	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148529554	chr1:9847727-9847728	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188965772	chr1:9847743-9847744	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12092457	chr1:9847762-9847763	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115132682	chr1:9847773-9847774	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549957911	chr1:9847809-9847810	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571508176	chr1:9847847-9847848	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191726662	chr1:9847849-9847850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142886529	chr1:9847860-9847861	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12739393	chr1:9847882-9847883	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12739400	chr1:9847898-9847899	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12739401	chr1:9847900-9847901	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12739405	chr1:9847909-9847910	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528851049	chr1:9847941-9847942	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547539196	chr1:9847952-9847953	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146539393	chr1:9847971-9847972	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6666402	chr1:9848030-9848031	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187253731	chr1:9848036-9848037	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576394989	chr1:9848039-9848040	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376171772	chr1:9848048-9848049	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543787384	chr1:9848081-9848082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
13	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
15	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:9833800-9848800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:9833800-9849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:9833800-9853400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:9834000-9852400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:9836000-9849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:9836800-9849000	Weak transcription	Fetal Stomach	stomach
29	chr1:9836800-9852000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:9836800-9852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:9836800-9852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:9838000-9854400	Weak transcription	Lung	lung
33	chr1:9839800-9853400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:9841000-9852200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:9841000-9852200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:9841000-9852400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:9843000-9864400	Weak transcription	Stomach Mucosa	stomach
38	chr1:9843200-9852000	Weak transcription	HUVEC	blood vessel
39	chr1:9843200-9852200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:9843400-9852200	Weak transcription	Hela-S3	cervix
41	chr1:9843400-9858400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:9844600-9849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:9844600-9852200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:9844800-9848000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:9844800-9849200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:9844800-9852400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:9845000-9849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:9845000-9852600	Weak transcription	K562	blood
49	chr1:9845600-9847400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:9845600-9849400	Enhancers	Fetal Thymus	thymus

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