Variant report

Variant	esv1005990
Chromosome Location	chr1:247103012-247103975
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	chr1:247093661..247096867-chr1:247100699..247105477,5	K562	blood:
2	chr1:247094081..247096260-chr1:247101445..247103602,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153207	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12075371	chr1:247103048-247103049	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12731660	chr1:247103054-247103055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12731242	chr1:247103060-247103061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12751853	chr1:247103066-247103067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28453056	chr1:247103072-247103073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79498151	chr1:247103083-247103084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77126431	chr1:247103125-247103126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567726296	chr1:247103127-247103128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535131380	chr1:247103136-247103137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs56217639	chr1:247103215-247103216	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552802964	chr1:247103231-247103232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140423072	chr1:247103258-247103259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537142533	chr1:247103280-247103281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201514413	chr1:247103281-247103282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147121333	chr1:247103285-247103286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148077993	chr1:247103319-247103320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186710740	chr1:247103322-247103323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71533491	chr1:247103346-247103347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56224106	chr1:247103350-247103351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56205357	chr1:247103352-247103353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56072755	chr1:247103358-247103359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71533492	chr1:247103364-247103365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371184331	chr1:247103369-247103370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7532564	chr1:247103370-247103371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76909482	chr1:247103375-247103376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55905430	chr1:247103376-247103377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71533493	chr1:247103378-247103379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7544151	chr1:247103389-247103390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs55678131	chr1:247103391-247103392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56016688	chr1:247103392-247103393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56003948	chr1:247103399-247103400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55844812	chr1:247103402-247103403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56007937	chr1:247103413-247103414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs56112747	chr1:247103424-247103425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55888875	chr1:247103426-247103427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs55796732	chr1:247103433-247103434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190745136	chr1:247103434-247103435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529500951	chr1:247103436-247103437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56265318	chr1:247103439-247103440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61547672	chr1:247103461-247103462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113834801	chr1:247103477-247103478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12030390	chr1:247103478-247103479	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528557185	chr1:247103480-247103481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551376982	chr1:247103492-247103493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs56378832	chr1:247103497-247103498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571341377	chr1:247103503-247103504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377561181	chr1:247103512-247103513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76503525	chr1:247103526-247103527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150278409	chr1:247103569-247103570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369192717	chr1:247103579-247103580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Bipolar disorder	19114987	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247095800-247124800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:247096000-247104600	Weak transcription	Fetal Brain Female	brain
3	chr1:247096000-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:247096000-247110800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:247096000-247110800	Weak transcription	Right Atrium	heart
6	chr1:247096000-247114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:247096000-247121000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:247096000-247121800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:247096000-247125000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:247096000-247130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:247096000-247131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:247096000-247131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:247096200-247106800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:247096200-247106800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:247096200-247109800	Weak transcription	HUVEC	blood vessel
16	chr1:247096200-247110000	Weak transcription	HepG2	liver
17	chr1:247096200-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:247096200-247112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:247096200-247112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:247096200-247117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:247096200-247123000	Weak transcription	K562	blood
22	chr1:247096200-247128400	Weak transcription	Fetal Stomach	stomach
23	chr1:247096400-247110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:247101800-247103200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:247102400-247123000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:247102800-247106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:247102800-247106600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:247102800-247107000	Weak transcription	Dnd41	blood
29	chr1:247102800-247109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:247102800-247122000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:247103000-247105200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:247103000-247106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:247103000-247121600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:247103200-247105200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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