Variant report

Variant	esv992847
Chromosome Location	chr1:197499789-197504257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
2	chr1:197502555..197505067-chr1:197869971..197872889,2	K562	blood:
3	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
4	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
5	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
6	chr1:197497659..197500919-chr1:197504865..197507867,5	K562	blood:

Variant related genes	Relation type
ENSG00000203724	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370677668	chr1:197499821-197499822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150884032	chr1:197499865-197499866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139374235	chr1:197499893-197499894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575670626	chr1:197500006-197500007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543097364	chr1:197500024-197500025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541562155	chr1:197500116-197500117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559166721	chr1:197500174-197500175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564666038	chr1:197500176-197500177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116039400	chr1:197500194-197500195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192541530	chr1:197500240-197500241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373843243	chr1:197500242-197500243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559287259	chr1:197500251-197500252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563039161	chr1:197500289-197500290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184339859	chr1:197500292-197500293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377625304	chr1:197500293-197500294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548544826	chr1:197500308-197500309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369710958	chr1:197500315-197500316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531770373	chr1:197500393-197500394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113658147	chr1:197500406-197500407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550222268	chr1:197500413-197500414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145647309	chr1:197500414-197500415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538768329	chr1:197500434-197500435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547921140	chr1:197500465-197500466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530461620	chr1:197500466-197500467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545401567	chr1:197500535-197500536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111573923	chr1:197500561-197500562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199507943	chr1:197500578-197500579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201195063	chr1:197500594-197500595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1225576	chr1:197500607-197500608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1225575	chr1:197500619-197500620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1225574	chr1:197500627-197500628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377492046	chr1:197500630-197500631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371103353	chr1:197500648-197500649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373612821	chr1:197500651-197500652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375731430	chr1:197500663-197500664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370358683	chr1:197500677-197500678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1225573	chr1:197500730-197500731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1225572	chr1:197500738-197500739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1225571	chr1:197500758-197500759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1225570	chr1:197500781-197500782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368157255	chr1:197500787-197500788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1225569	chr1:197500815-197500816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs301497	chr1:197500871-197500872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs301496	chr1:197500896-197500897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs301495	chr1:197500915-197500916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs301494	chr1:197500923-197500924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566186351	chr1:197500956-197500957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs301493	chr1:197501035-197501036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376430545	chr1:197501070-197501071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368884422	chr1:197501073-197501074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:197481200-197503400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:197481200-197504200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:197481200-197507200	Weak transcription	Dnd41	blood
10	chr1:197481200-197508000	Weak transcription	Left Ventricle	heart
11	chr1:197481200-197513400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:197481400-197503600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:197482000-197508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:197482000-197508000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:197482200-197507600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:197482200-197507800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
19	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:197494600-197510200	Weak transcription	Thymus	Thymus
21	chr1:197495200-197510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:197498400-197500400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:197500400-197500600	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:197502200-197508000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:197503200-197510000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:197503200-197524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:197503200-197526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:197503400-197504600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:197503400-197505000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:197503400-197510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:197503600-197504400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:197503600-197505200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:197503600-197514400	Weak transcription	Right Ventricle	heart
39	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:197503800-197507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:197504000-197504400	Enhancers	Osteobl	bone
42	chr1:197504000-197510400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:197504200-197505000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:197504200-197505400	Enhancers	Ovary	ovary
45	chr1:197504200-197529000	Weak transcription	Fetal Intestine Small	intestine

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