Variant report

Variant	esv3369664
Chromosome Location	chr1:222935606-222958164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222949173..222951950-chr1:222952029..222953849,2	MCF-7	breast:
2	chr1:222928279..222930727-chr1:222957957..222960468,2	MCF-7	breast:
3	chr1:222949173..222951950-chr1:222952029..222953849,2	MCF-7	breast:
4	chr1:222955751..222958236-chr1:223306317..223309045,2	MCF-7	breast:
5	chr1:222953543..222955080-chr1:222964714..222967533,2	MCF-7	breast:
6	chr1:222933683..222936065-chr1:222964950..222967024,2	K562	blood:
7	chr1:222942650..222943382-chr15:95895305..95896094,2	MCF-7	breast:
8	chr1:222946618..222949234-chr1:222965487..222968081,2	K562	blood:
9	chr1:222731468..222733360-chr1:222941211..222943133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187554	chromatin interactions

Extended variants
information (count: 859 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140545558	chr1:222935668-222935669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576425486	chr1:222935677-222935678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543834823	chr1:222935681-222935682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35399665	chr1:222935694-222935695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376018274	chr1:222935720-222935721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558507621	chr1:222935745-222935746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61825255	chr1:222935785-222935786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541319141	chr1:222935796-222935797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61825256	chr1:222935804-222935805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367807010	chr1:222935809-222935810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61825257	chr1:222935811-222935812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560373236	chr1:222935912-222935913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561051983	chr1:222935919-222935920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187117993	chr1:222935921-222935922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549828578	chr1:222935922-222935923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564870866	chr1:222935925-222935926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372203694	chr1:222935933-222935934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529148587	chr1:222935942-222935943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547721598	chr1:222935969-222935970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565787973	chr1:222935971-222935972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563487056	chr1:222936010-222936011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536463513	chr1:222936028-222936029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28521319	chr1:222936031-222936032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146935147	chr1:222936047-222936048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28654270	chr1:222936058-222936059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192703694	chr1:222936077-222936078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185458108	chr1:222936123-222936124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576839201	chr1:222936138-222936139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202220951	chr1:222936142-222936143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571474375	chr1:222936143-222936144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557162024	chr1:222936146-222936147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534656450	chr1:222936183-222936184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28655012	chr1:222936197-222936198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531030341	chr1:222936206-222936207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143556093	chr1:222936262-222936263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553653607	chr1:222936287-222936288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574996517	chr1:222936312-222936313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61825258	chr1:222936354-222936355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148257865	chr1:222936431-222936432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372939259	chr1:222936468-222936469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576131577	chr1:222936469-222936470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184149150	chr1:222936520-222936521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17163481	chr1:222936544-222936545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564931876	chr1:222936568-222936569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532147397	chr1:222936625-222936626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547388194	chr1:222936653-222936654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75073612	chr1:222936678-222936679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529925280	chr1:222936679-222936680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73126831	chr1:222936726-222936727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375459008	chr1:222936744-222936745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222934800-222939600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:222934800-222940000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:222939400-222941400	Enhancers	Dnd41	blood
4	chr1:222939600-222940000	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr1:222939800-222941000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:222940000-222940400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:222940000-222940800	Enhancers	Fetal Thymus	thymus
8	chr1:222940000-222941000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:222940000-222942000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:222940200-222940800	Enhancers	Primary T cells from cord blood	blood
11	chr1:222940200-222941000	Enhancers	GM12878-XiMat	blood
12	chr1:222940400-222940800	Enhancers	Thymus	Thymus
13	chr1:222940400-222941400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:222940800-222941200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222940800-222945000	Weak transcription	Thymus	Thymus
16	chr1:222941400-222942800	Enhancers	Colon Smooth Muscle	Colon
17	chr1:222942000-222943200	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr1:222942200-222942600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr1:222942400-222942600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:222942400-222943600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr1:222942600-222942800	ZNF genes & repeats	Aorta	Aorta
22	chr1:222942800-222943600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:222942800-222943800	Weak transcription	Aorta	Aorta
24	chr1:222942800-222951400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:222943000-222944200	Enhancers	Hela-S3	cervix
26	chr1:222943200-222944000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:222943600-222943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:222943600-222944000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:222943600-222944200	Enhancers	HUVEC	blood vessel
30	chr1:222944000-222944200	Enhancers	Primary B cells from cord blood	blood
31	chr1:222944000-222944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:222944000-222944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:222944000-222944200	Enhancers	Placenta	Placenta
34	chr1:222944000-222945600	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:222944000-222946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:222944200-222944400	Enhancers	Aorta	Aorta
37	chr1:222944200-222944400	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:222944200-222944600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:222944200-222944800	Weak transcription	Placenta	Placenta
40	chr1:222944200-222945000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:222944200-222945200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:222944200-222945400	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:222944200-222946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:222944400-222944600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:222944400-222945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:222944400-222945800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:222944400-222946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:222944600-222945200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:222944600-222945600	Enhancers	Primary B cells from cord blood	blood
50	chr1:222944800-222945000	Active TSS	Fetal Lung	lung

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