Variant report

Variant	esv3323745
Chromosome Location	chr1:214535996-214536257
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	chr1:214533625..214536259-chr1:214538057..214540162,2	MCF-7	breast:
2	chr1:214528682..214531608-chr1:214533975..214536606,2	K562	blood:

Variant related genes	Relation type
ENSG00000228470	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3002297	chr1:214536061-214536062	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192381906	chr1:214536066-214536067	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56738377	chr1:214536089-214536090	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115758826	chr1:214536100-214536101	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139211058	chr1:214536129-214536130	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544040778	chr1:214536152-214536153	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375335278	chr1:214536163-214536164	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11419880	chr1:214536179-214536180	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79078719	chr1:214536186-214536187	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541467974	chr1:214536196-214536197	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372336156	chr1:214536206-214536207	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376625154	chr1:214536242-214536243	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214503200-214537800	Weak transcription	Gastric	stomach
2	chr1:214512000-214537000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:214514000-214537800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:214515400-214542600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:214518400-214537800	Weak transcription	Fetal Brain Male	brain
7	chr1:214519000-214557800	Weak transcription	Dnd41	blood
8	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:214521200-214537600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:214522800-214552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:214523400-214540800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:214524800-214537800	Strong transcription	NHEK	skin
14	chr1:214524800-214539200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:214525000-214537000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:214525600-214540000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:214526000-214538600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:214526000-214544600	Weak transcription	Spleen	Spleen
19	chr1:214526400-214537200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:214526400-214542400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:214527400-214540600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:214527800-214542400	Weak transcription	HepG2	liver
23	chr1:214528600-214539800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:214528600-214552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:214528800-214537200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:214528800-214538800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:214528800-214539200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:214528800-214551800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:214529000-214538400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:214529200-214539600	Strong transcription	Fetal Stomach	stomach
33	chr1:214529400-214537000	Weak transcription	Fetal Kidney	kidney
34	chr1:214529400-214561800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:214529600-214537800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr1:214529600-214544600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:214531600-214537000	Weak transcription	Hela-S3	cervix
38	chr1:214531600-214543400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:214531600-214556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:214532000-214537000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:214532000-214537200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:214533000-214539200	Strong transcription	Fetal Lung	lung
43	chr1:214533200-214538400	Strong transcription	NHLF	lung
44	chr1:214533200-214538600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:214533400-214538800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:214533600-214538600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:214533800-214537000	Weak transcription	Ovary	ovary
48	chr1:214534000-214536400	Enhancers	Right Ventricle	heart
49	chr1:214534000-214538800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr1:214534000-214557000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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