Variant report

Variant	esv1837581
Chromosome Location	chr1:228122234-228127227
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228125046..228126642-chr1:228127676..228130531,2	K562	blood:
2	chr1:228083548..228086316-chr1:228121354..228124098,2	MCF-7	breast:
3	chr1:228124876..228126546-chr1:228127658..228129176,2	K562	blood:
4	chr1:228116517..228118419-chr1:228120867..228123021,2	K562	blood:
5	chr1:227950090..227952610-chr1:228122891..228125327,3	MCF-7	breast:
6	chr1:228120545..228123784-chr1:228127076..228130229,4	K562	blood:
7	chr1:228120602..228123082-chr1:228127538..228129867,2	MCF-7	breast:
8	chr1:228120999..228125449-chr1:228127251..228129340,4	MCF-7	breast:
9	chr1:228124987..228127284-chr1:228134040..228136968,3	MCF-7	breast:
10	chr1:228116517..228118164-chr1:228120854..228122367,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264483	chromatin interactions
ENSG00000143816	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs138287363	chr1:228122252-228122253	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557349686	chr1:228122265-228122266	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575504692	chr1:228122284-228122285	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7541491	chr1:228122308-228122309	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375428980	chr1:228122320-228122321	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181238221	chr1:228122362-228122363	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368641404	chr1:228122363-228122364	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540014962	chr1:228122369-228122370	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567809931	chr1:228122394-228122395	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561478114	chr1:228122404-228122405	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573692590	chr1:228122424-228122425	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116924588	chr1:228122443-228122444	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185641277	chr1:228122462-228122463	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61825079	chr1:228122469-228122470	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552944186	chr1:228122612-228122613	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564750273	chr1:228122637-228122638	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144147496	chr1:228122656-228122657	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188545236	chr1:228122667-228122668	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147320140	chr1:228122686-228122687	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535951000	chr1:228122728-228122729	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550758894	chr1:228122729-228122730	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs66492360	chr1:228122741-228122742	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375037496	chr1:228122809-228122810	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140956324	chr1:228122817-228122818	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539442434	chr1:228122864-228122865	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149409000	chr1:228122865-228122866	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572783371	chr1:228122877-228122878	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533799268	chr1:228122889-228122890	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35159983	chr1:228122892-228122893	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2796056	chr1:228122901-228122902	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs542492584	chr1:228122917-228122918	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74140821	chr1:228122934-228122935	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531130603	chr1:228122943-228122944	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180945504	chr1:228123053-228123054	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185892964	chr1:228123101-228123102	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577743557	chr1:228123167-228123168	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551150174	chr1:228123175-228123176	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74618199	chr1:228123183-228123184	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528816545	chr1:228123203-228123204	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374764510	chr1:228123212-228123213	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192363491	chr1:228123239-228123240	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562319652	chr1:228123279-228123280	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183749389	chr1:228123321-228123322	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74140822	chr1:228123326-228123327	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs199978246	chr1:228123373-228123374	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569228984	chr1:228123387-228123388	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148639459	chr1:228123396-228123397	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551375006	chr1:228123397-228123398	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142093972	chr1:228123418-228123419	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371177931	chr1:228123442-228123443	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
2	chr1:228099400-228122400	Weak transcription	HSMM	muscle
3	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:228109600-228132000	Weak transcription	Gastric	stomach
5	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
6	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:228116400-228122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:228117000-228123600	Weak transcription	Fetal Stomach	stomach
9	chr1:228118000-228125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:228118000-228126000	Weak transcription	Esophagus	oesophagus
11	chr1:228118200-228124400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:228118400-228124600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:228118400-228133000	Weak transcription	Ovary	ovary
14	chr1:228119000-228128000	Weak transcription	Pancreas	Pancrea
15	chr1:228120400-228122400	Weak transcription	A549	lung
16	chr1:228120600-228124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:228121000-228132600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:228121200-228123400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:228121400-228124600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:228121600-228122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:228121600-228122400	Enhancers	Adipose Nuclei	Adipose
22	chr1:228121600-228122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:228121600-228123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:228121800-228122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:228121800-228123200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:228121800-228123400	Enhancers	Fetal Muscle Leg	muscle
27	chr1:228121800-228123400	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:228121800-228124800	Enhancers	Placenta	Placenta
29	chr1:228121800-228128200	Weak transcription	Psoas Muscle	Psoas
30	chr1:228122000-228123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:228122200-228122600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:228122200-228122600	ZNF genes & repeats	NHEK	skin
33	chr1:228122200-228123800	ZNF genes & repeats	HMEC	breast
34	chr1:228122400-228122600	ZNF genes & repeats	HSMM	muscle
35	chr1:228122400-228122800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:228122400-228123200	Enhancers	A549	lung
37	chr1:228122600-228123400	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:228122600-228123800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:228122800-228123400	ZNF genes & repeats	HSMMtube	muscle
40	chr1:228122800-228123800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:228122800-228123800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:228122800-228123800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:228123200-228123600	ZNF genes & repeats	A549	lung
44	chr1:228123200-228123800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr1:228123200-228125800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:228123400-228123600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:228123400-228123800	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr1:228123400-228125400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:228123400-228125400	Strong transcription	HSMMtube	muscle
50	chr1:228123400-228126200	Weak transcription	Rectal Smooth Muscle	rectum

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