Variant report

Variant	esv1802688
Chromosome Location	chr1:220965474-220966649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr1:220966458-220966508	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:220964285-220965711	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:220965565-220965676	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
2	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:
3	chr1:220965572..220968372-chr1:220969216..220971838,2	MCF-7	breast:
4	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:
5	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:

No data

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000186205	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4131748	chr1:220965474-220965475	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72470591	chr1:220965537-220965538	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531412333	chr1:220965542-220965543	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551436078	chr1:220965545-220965546	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571192605	chr1:220965569-220965570	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192534266	chr1:220965578-220965579	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72470592	chr1:220965597-220965598	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556896150	chr1:220965619-220965620	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12023958	chr1:220965649-220965650	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs183653873	chr1:220965661-220965662	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs58744613	chr1:220965681-220965682	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs60326124	chr1:220965717-220965718	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368121672	chr1:220965788-220965789	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149474441	chr1:220965843-220965844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572625498	chr1:220965878-220965879	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12027850	chr1:220965909-220965910	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs12038224	chr1:220965938-220965939	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs59301251	chr1:220965994-220965995	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60569026	chr1:220965995-220965996	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79926967	chr1:220966007-220966008	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12031217	chr1:220966046-220966047	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188510752	chr1:220966061-220966062	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536660154	chr1:220966064-220966065	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12031225	chr1:220966099-220966100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575870239	chr1:220966102-220966103	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145841935	chr1:220966103-220966104	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184260899	chr1:220966107-220966108	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369627420	chr1:220966108-220966109	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12027930	chr1:220966109-220966110	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144048239	chr1:220966186-220966187	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528276064	chr1:220966247-220966248	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139893443	chr1:220966271-220966272	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59234976	chr1:220966290-220966291	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530430732	chr1:220966356-220966357	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12032061	chr1:220966449-220966450	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12039043	chr1:220966462-220966463	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35806221	chr1:220966536-220966537	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12039064	chr1:220966563-220966564	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12028745	chr1:220966600-220966601	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs566157713	chr1:220966602-220966603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535191536	chr1:220966610-220966611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs41274802	chr1:220966628-220966629	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141741561	chr1:220966636-220966637	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12039091	chr1:220966649-220966650	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
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	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
2	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
3	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220961000-220976800	Weak transcription	Ovary	ovary
5	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
10	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
15	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
19	chr1:220961800-220966000	Enhancers	Liver	Liver
20	chr1:220961800-220967000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach
22	chr1:220961800-220969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:220961800-220970000	Weak transcription	Fetal Stomach	stomach
24	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
28	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:220962600-220965600	Enhancers	Hela-S3	cervix
33	chr1:220962600-220966400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:220962600-220969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:220963600-220965800	Enhancers	Fetal Lung	lung
36	chr1:220964000-220965600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:220964000-220965800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:220964200-220965600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:220964400-220965800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:220964400-220966000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:220964600-220965600	Enhancers	Psoas Muscle	Psoas
43	chr1:220964600-220966800	Weak transcription	Fetal Intestine Large	intestine
44	chr1:220964800-220965600	Strong transcription	Fetal Intestine Small	intestine
45	chr1:220964800-220965600	Strong transcription	HepG2	liver
46	chr1:220964800-220970600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:220964800-220972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:220964800-220978400	Weak transcription	Primary B cells from cord blood	blood
49	chr1:220965000-220965800	Enhancers	Fetal Heart	heart
50	chr1:220965000-220968400	Weak transcription	Rectal Mucosa Donor 31	rectum

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