Variant report

Variant	esv3386614
Chromosome Location	chr1:241795930-241796417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241794861..241797433-chr1:241996680..241998541,2	K562	blood:
2	chr1:241796369..241796869-chr15:86661863..86662755,2	Hela-S3	cervix:
3	chr1:241792725..241796630-chr1:241798566..241804412,6	MCF-7	breast:
4	chr1:241792727..241796800-chr1:241998323..242001938,3	K562	blood:
5	chr1:241777588..241780548-chr1:241795040..241796800,2	MCF-7	breast:
6	chr1:241795192..241798178-chr1:241987807..241989667,2	K562	blood:
7	chr1:241796344..241797874-chr1:241911347..241912847,2	K562	blood:

Variant related genes	Relation type
ENSG00000203668	chromatin interactions
ENSG00000054277	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3765822	chr1:241795972-241795973	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529644656	chr1:241796003-241796004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546158544	chr1:241796043-241796044	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566458519	chr1:241796047-241796048	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372709054	chr1:241796052-241796053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538710239	chr1:241796068-241796069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558497755	chr1:241796110-241796111	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545227067	chr1:241796217-241796218	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs151171947	chr1:241796220-241796221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs183100785	chr1:241796225-241796226	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554914457	chr1:241796226-241796227	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs676750	chr1:241796284-241796285	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs139068296	chr1:241796326-241796327	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371756278	chr1:241796395-241796396	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	21546498	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
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	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
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241758000-241797200	Weak transcription	Left Ventricle	heart
2	chr1:241758000-241800200	Weak transcription	Ovary	ovary
3	chr1:241758800-241802400	Weak transcription	Right Ventricle	heart
4	chr1:241766200-241798600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:241776400-241797400	Weak transcription	NHLF	lung
6	chr1:241779400-241798600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:241779400-241800400	Weak transcription	Osteobl	bone
8	chr1:241779400-241800600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:241779400-241801000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:241779600-241796600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:241781200-241799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:241783400-241798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:241784400-241800600	Weak transcription	Fetal Brain Male	brain
14	chr1:241785200-241798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:241785400-241797200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:241786200-241800400	Weak transcription	Psoas Muscle	Psoas
17	chr1:241786600-241800800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:241786800-241796200	Weak transcription	Fetal Brain Female	brain
19	chr1:241787600-241797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:241787800-241802400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:241788200-241800800	Weak transcription	Gastric	stomach
22	chr1:241788200-241801400	Weak transcription	Colonic Mucosa	Colon
23	chr1:241788200-241802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:241788200-241802800	Weak transcription	Esophagus	oesophagus
25	chr1:241788800-241797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:241788800-241797800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:241789200-241797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:241789200-241802800	Weak transcription	Pancreas	Pancrea
29	chr1:241789800-241796400	Weak transcription	Dnd41	blood
30	chr1:241791000-241797400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:241791000-241797400	Weak transcription	NH-A	brain
32	chr1:241791000-241799600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:241791400-241797600	Weak transcription	NHEK	skin
34	chr1:241791400-241797800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:241791600-241800200	Weak transcription	Fetal Kidney	kidney
36	chr1:241791600-241800600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:241791600-241800800	Weak transcription	NHDF-Ad	bronchial
38	chr1:241791600-241801400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:241791600-241802200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:241791600-241802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:241791600-241802400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:241791800-241796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:241791800-241796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:241791800-241797000	Weak transcription	Fetal Thymus	thymus
45	chr1:241791800-241797200	Weak transcription	HUVEC	blood vessel
46	chr1:241791800-241797600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:241791800-241800600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:241791800-241800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:241791800-241801000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:241791800-241801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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