Variant report

Variant	rs550494251
Chromosome Location	chr2:179059692-179059693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178979115..178980922-chr2:179059390..179062250,2	K562	blood:
2	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
3	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
4	chr2:179059539..179061742-chr2:179114111..179116745,2	K562	blood:
5	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340257	chr2:179057106-179061404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv17391	chr2:179058529-179059941	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3409926	chr2:179058531-179061079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1821975	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1834988	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1838690	chr2:179058577-179060313	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1841516	chr2:179058577-179060313	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv583742	chr2:179058681-179059878	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1802318	chr2:179058714-179059878	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1839900	chr2:179058714-179059878	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv583744	chr2:179058714-179059878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv583748	chr2:179058818-179059812	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv1793934	chr2:179058818-179059878	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1800176	chr2:179058818-179059878	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1843270	chr2:179058818-179059878	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv1849278	chr2:179058818-179059878	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv583749	chr2:179058818-179059878	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv1807820	chr2:179058818-179060313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv583750	chr2:179058921-179059812	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv583752	chr2:179059081-179059812	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv583753	chr2:179059208-179059878	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179060800	Active TSS	NHLF	lung
2	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
3	chr2:179058200-179059800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:179058200-179060400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:179058200-179060400	Active TSS	Colon Smooth Muscle	Colon
6	chr2:179058200-179060400	Active TSS	Left Ventricle	heart
7	chr2:179058200-179060400	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:179058200-179060600	Active TSS	Right Ventricle	heart
9	chr2:179058200-179060600	Active TSS	NHDF-Ad	bronchial
10	chr2:179058200-179060800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:179058200-179060800	Active TSS	Right Atrium	heart
12	chr2:179058200-179061000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:179058400-179059800	Active TSS	Esophagus	oesophagus
14	chr2:179058400-179059800	Active TSS	Lung	lung
15	chr2:179058400-179060000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:179058400-179060000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:179058400-179060400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:179058400-179060400	Active TSS	Aorta	Aorta
19	chr2:179058400-179060400	Active TSS	HSMM	muscle
20	chr2:179058400-179060600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:179058400-179060800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179058400-179060800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179058400-179060800	Active TSS	Fetal Kidney	kidney
24	chr2:179058400-179061000	Active TSS	Ovary	ovary
25	chr2:179058400-179061400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:179058400-179061400	Active TSS	Psoas Muscle	Psoas
27	chr2:179058600-179059800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr2:179058600-179059800	Active TSS	Duodenum Mucosa	Duodenum
29	chr2:179058600-179059800	Weak transcription	Fetal Brain Male	brain
30	chr2:179058600-179059800	Active TSS	Fetal Intestine Large	intestine
31	chr2:179058600-179059800	Active TSS	HUVEC	blood vessel
32	chr2:179058600-179060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:179058600-179060000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:179058600-179060000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:179058600-179060000	Active TSS	Fetal Brain Female	brain
36	chr2:179058600-179060000	Active TSS	Fetal Lung	lung
37	chr2:179058600-179060000	Active TSS	Gastric	stomach
38	chr2:179058600-179060000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:179058600-179060200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:179058600-179060200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:179058600-179060200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:179058600-179060200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:179058600-179060200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr2:179058600-179060200	Active TSS	NH-A	brain
45	chr2:179058600-179060200	Active TSS	Osteobl	bone
46	chr2:179058600-179060400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr2:179058600-179060400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr2:179058600-179060400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:179058600-179060400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:179058600-179060400	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links