Variant report

Variant	esv3436324
Chromosome Location	chr2:172973656-172974704
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172751399..172753053-chr2:172972072..172974852,2	MCF-7	breast:
2	chr2:172972600..172974190-chr2:172975792..172977649,2	K562	blood:
3	chr2:172966348..172968822-chr2:172971677..172974375,3	MCF-7	breast:
4	chr2:172970741..172972520-chr2:172972627..172974795,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX1-1	chr2:172973630-172973710	XLOC_001755
2	lnc-DLX1-1	chr2:172974518-172974710	XLOC_001755

No data

Variant related genes	Relation type
ENSG00000236651	chromatin interactions
ENSG00000115844	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376370819	chr2:172973698-172973699	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs548481090	chr2:172973724-172973725	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566627560	chr2:172973781-172973782	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs137926407	chr2:172973801-172973802	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527509574	chr2:172973839-172973840	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13018407	chr2:172973900-172973901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186571285	chr2:172973901-172973902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538338613	chr2:172973948-172973949	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4972598	chr2:172973949-172973950	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539489675	chr2:172973958-172973959	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568471970	chr2:172974021-172974022	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535811171	chr2:172974041-172974042	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554468545	chr2:172974050-172974051	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112870878	chr2:172974066-172974067	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540068053	chr2:172974113-172974114	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140577825	chr2:172974262-172974263	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191410552	chr2:172974271-172974272	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368346836	chr2:172974336-172974337	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372482376	chr2:172974339-172974340	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34086704	chr2:172974340-172974341	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36017647	chr2:172974367-172974368	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112724508	chr2:172974369-172974370	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368035106	chr2:172974370-172974371	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199515400	chr2:172974373-172974374	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71015619	chr2:172974385-172974386	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs146646051	chr2:172974387-172974388	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs183944016	chr2:172974465-172974466	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142605088	chr2:172974504-172974505	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562211152	chr2:172974525-172974526	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs188447841	chr2:172974533-172974534	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs35881794	chr2:172974538-172974539	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs541440317	chr2:172974548-172974549	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs17726078	chr2:172974566-172974567	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113488765	chr2:172974692-172974693	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172968000-172974800	Weak transcription	Gastric	stomach
2	chr2:172971600-172975200	Bivalent Enhancer	Fetal Thymus	thymus
3	chr2:172971800-172974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:172971800-172974200	Weak transcription	NHEK	skin
5	chr2:172971800-172974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:172971800-172974600	Weak transcription	HMEC	breast
7	chr2:172972200-172973800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr2:172972600-172973800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172972600-172974200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:172972600-172974400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:172972600-172974800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172973000-172978200	Weak transcription	NHDF-Ad	bronchial
13	chr2:172973200-172973800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr2:172973200-172974000	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr2:172973200-172974400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr2:172973200-172974600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:172973400-172973800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr2:172973400-172974000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:172973400-172974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:172973600-172973800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172973600-172974400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:172973600-172974800	Bivalent Enhancer	HepG2	liver
23	chr2:172973800-172975000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:172974000-172974200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:172974200-172974400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:172974200-172974400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:172974200-172974400	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr2:172974200-172974400	Enhancers	NHEK	skin
29	chr2:172974200-172974600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr2:172974200-172974600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr2:172974200-172974600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr2:172974200-172974600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:172974200-172974800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:172974200-172975000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:172974200-172975200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:172974200-172975200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:172974400-172974600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr2:172974400-172974600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:172974400-172974600	Enhancers	Brain Germinal Matrix	brain
40	chr2:172974400-172974600	Enhancers	Spleen	Spleen
41	chr2:172974400-172974600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr2:172974400-172974800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr2:172974400-172975000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr2:172974400-172975000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr2:172974400-172975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:172974400-172975200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr2:172974400-172975200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:172974400-172975200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr2:172974400-172975200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr2:172974400-172975200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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