Variant report

Variant	nsv518335
Chromosome Location	chr2:172972971-172974749
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	chr2:172966348..172968822-chr2:172971677..172974375,3	MCF-7	breast:
2	chr2:172751399..172753053-chr2:172972072..172974852,2	MCF-7	breast:
3	chr2:172972600..172974190-chr2:172975792..172977649,2	K562	blood:
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: 61 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2016394	chr2:172972971-172972972	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs188626361	chr2:172972972-172972973	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565671208	chr2:172972976-172972977	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566668021	chr2:172973002-172973003	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192367794	chr2:172973015-172973016	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559033390	chr2:172973019-172973020	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551131508	chr2:172973038-172973039	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111608772	chr2:172973055-172973056	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571088244	chr2:172973077-172973078	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556587865	chr2:172973125-172973126	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575258082	chr2:172973139-172973140	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542540656	chr2:172973196-172973197	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs13035801	chr2:172973253-172973254	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572614760	chr2:172973266-172973267	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182104232	chr2:172973300-172973301	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13036013	chr2:172973372-172973373	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149197108	chr2:172973397-172973398	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567494166	chr2:172973398-172973399	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535791795	chr2:172973425-172973426	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549120526	chr2:172973427-172973428	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4255931	chr2:172973453-172973454	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569302296	chr2:172973468-172973469	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543854186	chr2:172973612-172973613	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562150086	chr2:172973623-172973624	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	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
26	rs548481090	chr2:172973724-172973725	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566627560	chr2:172973781-172973782	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs137926407	chr2:172973801-172973802	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527509574	chr2:172973839-172973840	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	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
31	rs186571285	chr2:172973901-172973902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538338613	chr2:172973948-172973949	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4972598	chr2:172973949-172973950	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539489675	chr2:172973958-172973959	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568471970	chr2:172974021-172974022	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535811171	chr2:172974041-172974042	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs554468545	chr2:172974050-172974051	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs112870878	chr2:172974066-172974067	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540068053	chr2:172974113-172974114	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	rs71015619	chr2:172974385-172974386	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs146646051	chr2:172974387-172974388	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	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:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172968000-172974800	Weak transcription	Gastric	stomach
2	chr2:172970600-172973000	Enhancers	Pancreas	Pancrea
3	chr2:172970600-172973400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr2:172970600-172973600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:172970800-172973200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr2:172971200-172973600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:172971400-172973400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:172971600-172973400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr2:172971600-172973600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr2:172971600-172975200	Bivalent Enhancer	Fetal Thymus	thymus
11	chr2:172971800-172974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:172971800-172974200	Weak transcription	NHEK	skin
13	chr2:172971800-172974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:172971800-172974600	Weak transcription	HMEC	breast
15	chr2:172972200-172973000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:172972200-172973000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr2:172972200-172973200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:172972200-172973400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr2:172972200-172973800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr2:172972400-172973000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:172972400-172973000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr2:172972400-172973000	Enhancers	NHDF-Ad	bronchial
23	chr2:172972400-172973200	Bivalent Enhancer	Right Ventricle	heart
24	chr2:172972400-172973400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr2:172972600-172973000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr2:172972600-172973000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr2:172972600-172973000	Bivalent Enhancer	Esophagus	oesophagus
28	chr2:172972600-172973000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr2:172972600-172973000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr2:172972600-172973200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:172972600-172973200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr2:172972600-172973200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr2:172972600-172973200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr2:172972600-172973200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:172972600-172973200	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr2:172972600-172973200	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr2:172972600-172973200	Enhancers	Right Atrium	heart
38	chr2:172972600-172973200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr2:172972600-172973200	Bivalent Enhancer	HUVEC	blood vessel
40	chr2:172972600-172973200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr2:172972600-172973400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:172972600-172973400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:172972600-172973400	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr2:172972600-172973400	Bivalent Enhancer	Liver	Liver
45	chr2:172972600-172973400	Bivalent Enhancer	Spleen	Spleen
46	chr2:172972600-172973800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:172972600-172974200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172972600-172974400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr2:172972600-172974800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:172972800-172973000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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