Variant report

Variant	esv3372238
Chromosome Location	chr1:212544129-212549027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212548749..212550698-chr1:212631997..212633826,2	K562	blood:
2	chr1:212544671..212547756-chr1:212550535..212553418,4	K562	blood:
3	chr1:212535909..212537642-chr1:212547330..212549342,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185071967	chr1:212544136-212544137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187786412	chr1:212544149-212544150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11119923	chr1:212544243-212544244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs540017951	chr1:212544245-212544246	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557908456	chr1:212544318-212544319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576172989	chr1:212544352-212544353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111910791	chr1:212544361-212544362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535738623	chr1:212544362-212544363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550899444	chr1:212544373-212544374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562739938	chr1:212544416-212544417	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541011337	chr1:212544450-212544451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143875429	chr1:212544502-212544503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533000420	chr1:212544519-212544520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535941812	chr1:212544561-212544562	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556828490	chr1:212544562-212544563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564248217	chr1:212544577-212544578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35587530	chr1:212544584-212544585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397730698	chr1:212544601-212544602	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72754316	chr1:212544602-212544603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138108873	chr1:212544625-212544626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199584848	chr1:212544642-212544643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369501638	chr1:212544648-212544649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531645038	chr1:212544674-212544675	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568942672	chr1:212544680-212544681	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35030678	chr1:212544722-212544723	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145725079	chr1:212544723-212544724	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72754319	chr1:212544735-212544736	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547198509	chr1:212544769-212544770	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372492024	chr1:212544832-212544833	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148505110	chr1:212544924-212544925	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547803228	chr1:212544925-212544926	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs193161898	chr1:212544930-212544931	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75406021	chr1:212544935-212544936	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs398053788	chr1:212544939-212544940	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540054976	chr1:212544973-212544974	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558343774	chr1:212544999-212545000	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558977380	chr1:212545052-212545053	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12088919	chr1:212545084-212545085	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550953458	chr1:212545101-212545102	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555434381	chr1:212545126-212545127	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573592059	chr1:212545150-212545151	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540990650	chr1:212545185-212545186	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559400929	chr1:212545198-212545199	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577472068	chr1:212545282-212545283	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541456257	chr1:212545287-212545288	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142893885	chr1:212545349-212545350	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561122639	chr1:212545381-212545382	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369491212	chr1:212545496-212545497	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530242601	chr1:212545535-212545536	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56708545	chr1:212545625-212545626	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:212508200-212545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:212523600-212550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:212525600-212545600	Strong transcription	Primary T cells from cord blood	blood
9	chr1:212526800-212549200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:212526800-212550800	Weak transcription	HSMMtube	muscle
11	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
12	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
13	chr1:212529000-212550800	Weak transcription	NHLF	lung
14	chr1:212529400-212562400	Strong transcription	Dnd41	blood
15	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:212530200-212552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212531600-212550000	Weak transcription	Pancreas	Pancrea
18	chr1:212531800-212550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212532000-212548600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:212532200-212550400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:212532400-212560200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:212533400-212557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:212533800-212552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:212534000-212558200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:212534000-212570200	Weak transcription	HSMM	muscle
26	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:212534600-212560000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:212535000-212552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:212535200-212560200	Weak transcription	Hela-S3	cervix
31	chr1:212536200-212550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:212536200-212550600	Weak transcription	Brain Angular Gyrus	brain
33	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:212536600-212549400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:212536600-212552800	Weak transcription	HMEC	breast
36	chr1:212537800-212551600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:212538000-212546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:212538000-212571000	Weak transcription	NH-A	brain
39	chr1:212538200-212546400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:212538200-212550600	Weak transcription	Placenta	Placenta
41	chr1:212538200-212559600	Weak transcription	Right Atrium	heart
42	chr1:212538600-212548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:212538600-212550000	Weak transcription	Colonic Mucosa	Colon
44	chr1:212538600-212550400	Weak transcription	Ovary	ovary
45	chr1:212538800-212546800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:212538800-212549400	Weak transcription	Gastric	stomach
47	chr1:212539400-212548600	Weak transcription	Esophagus	oesophagus
48	chr1:212539400-212549400	Weak transcription	Aorta	Aorta
49	chr1:212539600-212550800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:212540000-212549400	Weak transcription	Rectal Mucosa Donor 31	rectum

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