Variant report

Variant	esv3403224
Chromosome Location	chr1:213081429-213085627
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	chr1:213081058..213082812-chr1:213090244..213092808,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12135746	chr1:213081440-213081441	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533791147	chr1:213081456-213081457	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540242311	chr1:213081547-213081548	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78926580	chr1:213081554-213081555	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576736363	chr1:213081555-213081556	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537401583	chr1:213081581-213081582	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555760714	chr1:213081627-213081628	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371764184	chr1:213081636-213081637	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112936733	chr1:213081661-213081662	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541894616	chr1:213081664-213081665	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560018599	chr1:213081686-213081687	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374713867	chr1:213081731-213081732	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138457499	chr1:213081743-213081744	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540513008	chr1:213081749-213081750	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11586464	chr1:213081828-213081829	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs35362839	chr1:213081848-213081849	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397861849	chr1:213081853-213081854	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11120065	chr1:213081888-213081889	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113316014	chr1:213081945-213081946	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs562851744	chr1:213081971-213081972	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530066117	chr1:213081979-213081980	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141539009	chr1:213081994-213081995	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202102410	chr1:213082008-213082009	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566891335	chr1:213082028-213082029	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533946461	chr1:213082106-213082107	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150841688	chr1:213082127-213082128	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs187231809	chr1:213082146-213082147	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570384513	chr1:213082150-213082151	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4951652	chr1:213082169-213082170	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556072867	chr1:213082201-213082202	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4951653	chr1:213082203-213082204	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs535152499	chr1:213082224-213082225	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4951473	chr1:213082267-213082268	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113675296	chr1:213082276-213082277	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200514978	chr1:213082283-213082284	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60217669	chr1:213082286-213082287	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7525885	chr1:213082289-213082290	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs59010156	chr1:213082292-213082293	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572056941	chr1:213082341-213082342	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372765446	chr1:213082415-213082416	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs561807867	chr1:213082423-213082424	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs75570815	chr1:213082428-213082429	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs577545002	chr1:213082429-213082430	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs114162177	chr1:213082471-213082472	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs190794936	chr1:213082532-213082533	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs200617910	chr1:213082547-213082548	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs34901157	chr1:213082550-213082551	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs143618750	chr1:213082555-213082556	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs34250309	chr1:213082556-213082557	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs34842833	chr1:213082637-213082638	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
T-cell lymphomas	22341440	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213079000-213082600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
5	chr1:213079800-213082400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:213079800-213082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:213080400-213081800	Genic enhancers	H1 Cell Line	embryonic stem cell
8	chr1:213080600-213081600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:213080600-213082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:213080600-213083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:213080800-213081600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
12	chr1:213081200-213081600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:213081200-213081600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
14	chr1:213081400-213081600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:213081400-213082400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:213081400-213082800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:213081600-213081800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:213081600-213082400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:213081600-213082600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:213081600-213082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:213081600-213088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:213081800-213082000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:213081800-213083000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:213082000-213082200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:213082000-213082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:213082200-213082400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:213082400-213082600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:213082400-213082600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:213082400-213082600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:213082400-213082600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:213082400-213082600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:213082400-213083200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:213082400-213083200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr1:213082600-213082800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:213082600-213082800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:213082600-213083000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:213082600-213083000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:213082600-213083000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:213082600-213083000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:213082600-213083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:213082800-213083000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:213082800-213083000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:213082800-213083000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:213082800-213083200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:213083000-213083200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:213083000-213083200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:213083000-213083200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
48	chr1:213083000-213083200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:213083000-213083200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr1:213083000-213083200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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