Variant report

Variant	esv3401503
Chromosome Location	chr1:246718082-246718482
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	chr1:246715254..246718890-chr1:246721529..246724491,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532882295	chr1:246718097-246718098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552455607	chr1:246718099-246718100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144748376	chr1:246718102-246718103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3120709	chr1:246718103-246718104	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548715371	chr1:246718128-246718129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78833397	chr1:246718147-246718148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186967707	chr1:246718151-246718152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554254545	chr1:246718224-246718225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192249008	chr1:246718243-246718244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138390637	chr1:246718266-246718267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184038217	chr1:246718276-246718277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188573810	chr1:246718282-246718283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115949403	chr1:246718378-246718379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192835188	chr1:246718396-246718397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12088572	chr1:246718400-246718401	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571859092	chr1:246718402-246718403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540617902	chr1:246718405-246718406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182917066	chr1:246718416-246718417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532649538	chr1:246718437-246718438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552857355	chr1:246718462-246718463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186841457	chr1:246718474-246718475	Weak transcription Strong transcription	n/a	n/a	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
Rett syndrome	21593744	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
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246700600-246728200	Weak transcription	Fetal Heart	heart
2	chr1:246702000-246723800	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr1:246702000-246724400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:246702000-246727200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:246702000-246727200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:246702000-246727600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:246702200-246720600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr1:246702200-246720800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:246702200-246724600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:246702200-246724600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:246702200-246728200	Weak transcription	Stomach Mucosa	stomach
12	chr1:246702200-246728400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:246702400-246721400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:246702400-246724400	Strong transcription	Placenta	Placenta
15	chr1:246702400-246726600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:246702800-246726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:246702800-246728600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:246703000-246727200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:246703200-246724000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:246703200-246724200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:246703200-246724400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:246703200-246727400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:246703600-246721200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:246703600-246723400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:246703600-246723800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:246703600-246724200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:246703600-246724600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:246703600-246724800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:246703800-246720600	Strong transcription	Adipose Nuclei	Adipose
30	chr1:246704000-246720200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:246704000-246721000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:246704000-246724200	Strong transcription	Dnd41	blood
33	chr1:246704200-246720800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:246704200-246723600	Strong transcription	K562	blood
35	chr1:246704200-246726400	Strong transcription	Fetal Intestine Large	intestine
36	chr1:246704200-246728000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:246705200-246724600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:246705600-246724400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:246705600-246724400	Strong transcription	Fetal Stomach	stomach
40	chr1:246705600-246727400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:246707000-246727600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:246707600-246727800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:246708000-246722600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:246709400-246728200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:246710000-246718600	Strong transcription	Hela-S3	cervix
46	chr1:246710000-246724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:246710400-246721000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:246710600-246723800	Strong transcription	Primary B cells from cord blood	blood
49	chr1:246710800-246720600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:246711000-246724400	Strong transcription	Primary T cells from cord blood	blood

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